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Lista de obras de Hanns Lochmüller

"Be an ambassador for change that you would like to see": a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease

artículo científico publicado en 2019

'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases

artículo científico publicado en 2016

'You should at least ask'. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research

artículo científico publicado en 2016

125th ENMC International Workshop: Neuromuscular Disorders in the Roma (Gypsy) Population, 23–25 April 2004, Naarden, The Netherlands

126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.

artículo científico publicado en 2005

157th ENMC International Workshop: patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, The Netherlands

artículo científico publicado en 2008

186th ENMC International Workshop: Congenital myasthenic syndromes 24–26 June 2011, Naarden, The Netherlands

204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24-26 January 2014, Naarden, The Netherlands

artículo científico publicado en 2015

215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands

artículo científico publicado en 2016

222nd ENMC International Workshop:

artículo científico publicado en 2018

237th ENMC International Workshop: GNE myopathy - current and future research Hoofddorp, The Netherlands, 14-16 September 2018

artículo científico publicado en 2019

5' trans-splicing repair of the PLEC1 gene

artículo científico publicado en 2007

A 'second truncation' in TTN causes early onset recessive muscular dystrophy

artículo científico publicado en 2017

A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome

artículo científico publicado en 2015

A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population

artículo científico publicado en 2002

A Phase 2 Study of AMO-02 (Tideglusib) in Congenital and Childhood-Onset Myotonic Dystrophy Type 1 (DM1)

artículo científico publicado en 2020

A Review of International Biobanks and Networks: Success Factors and Key Benchmarks-A 10-Year Retrospective Review

artículo científico publicado en 2019

A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.

artículo científico publicado en 2018

A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.

artículo científico publicado en 2018

A comparative study of care practices for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis

artículo científico publicado en 2017

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy

artículo científico publicado en 2011

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

artículo científico publicado en 2020

A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy

artículo científico publicado en 2016

A hot-spot for transposition of various Ty elements on chromosome V in Saccharomyces cerevisiae

artículo científico publicado en 1989

A modified alignment of human and rodent 5′ untranslated sequences of the acetylcholine receptor epsilon subunit gene reveals additional regions of high homology

article

A multi-source approach to determine SMA incidence and research ready population

artículo científico publicado en 2017

A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.

artículo científico publicado en 2005

A national spinal muscular atrophy registry for real world evidence

scientific article published on 04 June 2020

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

artículo científico publicado en 2012

A new web-based method for automated analysis of muscle histology

artículo científico publicado en 2013

A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome

artículo científico publicado en 2002

A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome

artículo científico publicado en 2004

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation

artículo científico publicado en 2003

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

artículo científico publicado en 2018

A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).

artículo científico publicado en 2011

A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.

artículo científico publicado en 2017

A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy.

artículo científico publicado en 2019

A refined diagnostic algorithm for Bethlem myopathy

artículo científico publicado en 2008

A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome

artículo científico publicado en 2011

A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay

artículo científico publicado en 2007

ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies

artículo científico publicado en 2011

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency

artículo científico publicado en 2014

ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation

artículo científico publicado en 2013

Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency

artículo científico

Activities of daily living in myotonic dystrophy type 1

artículo científico publicado en 2020

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations

scholarly article by Ulrike Schara et al published 10 December 2010 in Journal of Inherited Metabolic Disease

Adenovirus vectors based on human adenovirus type 19a have high potential for human muscle-directed gene therapy

artículo científico publicado en 2006

Adult care for Duchenne muscular dystrophy in the UK.

artículo científico publicado en 2014

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

artículo científico publicado en 2011

Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited

artículo científico publicado en 2007

Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development

artículo científico publicado en 2020

Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies

artículo científico publicado en 2014

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

artículo científico publicado en 2014

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

artículo científico publicado en 2010

An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X).

artículo científico publicado en 2005

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1

artículo científico publicado en 2008

An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy.

artículo científico publicado en 2001

An improved method for culturing myotubes on laminins for the robust clustering of postsynaptic machinery

scientific article published on 11 March 2020

An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome.

artículo científico publicado en 2005

Analysis of HLA class I and II alleles in sporadic inclusion-body myositis

artículo científico publicado en 2003

Analysis of the functional capacity outcome measures for myotonic dystrophy

scientific article published on 22 July 2019

Analyzing walking speeds with ankle and wrist worn accelerometers in a cohort with myotonic dystrophy

scientific article published on 10 July 2018

Antibody-mediated targeting of an adenovirus vector modified to contain a synthetic immunoglobulin g-binding domain in the capsid

artículo científico publicado en 2003

Antigen processing and presentation in human muscle: cathepsin S is critical for MHC class II expression and upregulated in inflammatory myopathies

artículo científico publicado en 2003

Antisense oligonucleotides and short interfering RNAs silencing the cyclin-dependent kinase inhibitor p21 improve proliferation of Duchenne muscular dystrophy patients' primary skeletal myoblasts

artículo científico publicado en 2004

Assessment of disease progression in dysferlinopathy: A 1-year cohort study

artículo científico publicado en 2019

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

artículo científico publicado en 2016

Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy

scientific article published on 13 March 2009

Attenuation of adverse cardiac effects in prednisolone-treated delta-sarcoglycan-deficient mice by mineralocorticoid-receptor-antagonism

artículo científico publicado en 2009

Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy

artículo científico publicado en 2016

Autosomal recessive variants in alter the γ-tubulin ring complex leading to neurodevelopmental disease

artículo científico publicado en 2021

Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3

artículo científico publicado en 2009

Becker and Duchenne muscular dystrophy: a two-way information process for therapies

scientific article published on 21 May 2013

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

artículo científico publicado en 2020

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

artículo científico publicado en 2014

Benign and malignant tumors in the UK myotonic dystrophy patient registry

artículo científico publicado en 2017

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

artículo científico publicado en 2020

Biobanking in rare disorders

artículo científico publicado en 2010

Biochemical and pathological changes result from mutated Caveolin-3 in muscle

scholarly article by José Andrés González Coraspe published in August 2018

Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy

scientific article published on 06 May 2020

C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy

article

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn

artículo científico publicado en 2006

COL4A1-related autosomal recessive encephalopathy in 2 Turkish children

scientific article published on 10 January 2020

Change over time in ability to perform activities of daily living in myotonic dystrophy type 1

artículo científico publicado en 2020

Characterization of hereditary inclusion body myopathy myoblasts: possible primary impairment of apoptotic events

artículo científico publicado en 2007

Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency.

artículo científico publicado en 2000

Characterization of the DMD/BMD patient population in Czech Republic and Slovakia using an innovative registry approach

artículo científico publicado en 2009

Childhood dermatomyositis associated with intracranial tumor and liver cysts

artículo científico publicado en 2006

Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2017

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

artículo científico publicado en 2017

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies

article

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

article

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

artículo científico publicado en 2008

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients

artículo científico publicado en 2007

Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations

artículo científico publicado en 2016

Clinical and neuropathological findings in patients with TACO1 mutations

artículo científico publicado en 2010

Clinical and research strategies for limb-girdle congenital myasthenic syndromes

artículo científico publicado en 2018

Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

artículo científico publicado en 2016

Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants

artículo científico publicado en 2004

Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil

scientific article published on 05 September 2018

Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies

artículo científico publicado en 2008

Cloning of novel injury-regulated genes. Implications for an important role of the muscle-specific protein skNAC in muscle repair

artículo científico publicado en 1999

Co-presentation of adult-onset systemic lupus erythematosus and nemaline myopathy

artículo científico publicado en 2017

Coenzyme Q10 deficiency and isolated myopathy.

artículo científico publicado en 2006

Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial

article

Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.

artículo científico publicado en 2005

Comparative mass spectrometric and immunoassay-based proteome analysis in serum of Duchenne muscular dystrophy patients

artículo científico publicado en 2015

Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients

scientific article published on 28 January 2020

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains

artículo científico publicado en 2017

Compliance to Care Guidelines for Duchenne Muscular Dystrophy

artículo científico publicado en 2015

Compliance to care guidelines for Duchenne muscular dystrophy in Italy

artículo científico publicado en 2016

Comprehensive RNA-Sequencing Analysis in Serum and Muscle Reveals Novel Small RNA Signatures with Biomarker Potential for DMD

scientific article published on 17 August 2018

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

artículo científico publicado en 2020

Congenital Myasthenic Syndromes

artículo científico publicado en 1993

Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions

artículo científico publicado en 2017

Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness

artículo científico publicado en 2015

Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit gene.

artículo científico publicado en 2002

Congenital myasthenic syndrome and minicore-like myopathy with DOK7 mutation

artículo científico publicado en 2013

Congenital myasthenic syndrome caused by novel COL13A1 mutations

artículo científico publicado en 2019

Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness

scientific article published on 29 March 2020

Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase

artículo científico publicado en 2003

Congenital myasthenic syndrome due to choline acetyltransferase mutations in infants: clinical suspicion and comprehensive electrophysiological assessment are important for early diagnosis

artículo científico publicado en 2013

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients

artículo científico publicado en 2017

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

artículo científico publicado en 2013

Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients

artículo científico publicado en 2012

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission

artículo científico publicado en 2007

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

artículo científico publicado en 2019

Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

scientific article published on 15 August 2019

Corrigendum to "Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT)" [Neuromuscular Disorders 25 (2015) 937-944].

artículo científico publicado en 2016

Corrigendum: Identification of novel, therapy-responsive protein biomarkers in a mouse model of Duchenne muscular dystrophy by aptamer-based serum proteomics

artículo científico publicado en 2016

Creatine monohydrate in myotonic dystrophy: a double-blind, placebo-controlled clinical study

artículo científico publicado en 2002

Critical points for an accurate human genome analysis.

artículo científico publicado en 2017

Current status of gene therapy for muscle diseases

artículo científico publicado en 2007

Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue

artículo científico publicado en 2008

Cytokine Profiling of Serum Allows Monitoring of Disease Progression in Inclusion Body Myositis.

artículo científico publicado en 2017

DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy

artículo científico publicado en 2012

DOK7 mutations presenting as a proximal myopathy in French Canadians

artículo científico publicado en 2010

Das Muskeldystrophie-Netzwerk MD-NET

De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy

artículo científico publicado en 2002

De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure

artículo científico publicado en 2019

De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany

scientific article published on 24 June 2019

Deactivation and desensitization of mouse embryonic- and adult-type nicotinic receptor channel currents

artículo científico publicado en 2001

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

artículo científico publicado en 2016

Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery–Dreifuss muscular dystrophy

scholarly article by Maggie C. Walter et al published January 2005 in Neuromuscular Disorders

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry

scientific article published on 09 May 2016

Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT).

artículo científico publicado en 2015

Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP).

artículo científico publicado en 2008

Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs

article published in 2005

Differential short-term transduction efficiency of adult versus newborn mouse tissues by adenoviral recombinants.

artículo científico

Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family

artículo científico publicado en 2019

Disease burden of myotonic dystrophy type 1

artículo científico publicado en 2019

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

artículo científico publicado en 2011

Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy

artículo científico publicado en 2010

Dok-7 mutations underlie a neuromuscular junction synaptopathy

artículo científico publicado en 2006

Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes

artículo científico

Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome.

artículo científico publicado en 2017

Drug-induced systemic lupus erythematosus after 8 years of treatment with carbamazepine

artículo científico publicado en 1998

Duchenne muscular dystrophy and caregiver burden: a systematic review

article

Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle

article

Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle

artículo científico publicado en 2013

EFNS guideline on diagnosis and management of limb girdle muscular dystrophies

artículo científico publicado en 2007

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

artículo científico publicado en 2014

Economic Costs of Myasthenia Gravis: A Systematic Review

artículo científico publicado en 2020

Economic Evaluation in Duchenne Muscular Dystrophy: Model Frameworks for Cost-Effectiveness Analysis

artículo científico publicado en 2016

Editorial

Efficient and fast functional screening of microdystrophin constructs in vivo and in vitro for therapy of duchenne muscular dystrophy.

artículo científico publicado en 2009

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome

artículo científico publicado en 2015

Elevated striatal dopamine transporter in a drug naive patient with Tourette syndrome and attention deficit/ hyperactivity disorder: positive effect of methylphenidate

artículo científico publicado en 2002

Eosinophilic myositis as presenting symptom in gamma-sarcoglycanopathy

artículo científico publicado en 2009

Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations

artículo científico publicado en 2009

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

artículo científico publicado en 2006

European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences

artículo científico publicado en 2016

Evaluation of the therapeutic potential of carbonic anhydrase inhibitors in two animal models of dystrophin deficient muscular dystrophy

artículo científico publicado en 2009

Examination of transcript amounts and activity of protein kinase CK2 in muscle lysates of different types of human muscle pathologies

artículo científico publicado en 2008

Exercise-induced myalgia in hypothyroidism

artículo científico publicado en 1993

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy

artículo científico publicado en 2017

Exon skipping and gene transfer restore dystrophin expression in hiPSC-cardiomyocytes harbouring DMD mutations.

artículo científico publicado en 2013

Exon skipping and gene transfer restore dystrophin expression in human induced pluripotent stem cells-cardiomyocytes harboring DMD mutations

artículo científico publicado en 2013

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa

artículo científico publicado en 2020

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

article by Sebastian Köhler et al published 8 January 2019 in Nucleic Acids Research

Expression of dystrophin driven by the 1.35-kb MCK promoter ameliorates muscular dystrophy in fast, but not in slow muscles of transgenic mdx mice

artículo científico publicado en 2003

Expression of growth associated protein 43 and neural cell adhesion molecule in congenital fibre type disproportion with interstitial myositis.

artículo científico publicado en 1994

Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts

artículo científico publicado en 1999

Expression of toll-like receptors by human muscle cells in vitro and in vivo: TLR3 is highly expressed in inflammatory and HIV myopathies, mediates IL-8 release and up-regulation of NKG2D-ligands.

artículo científico publicado en 2005

Facing the genetic heterogeneity in neuromuscular disorders: Linkage analysis as an economic diagnostic approach towards the molecular diagnosis

article

Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy

article

Factors influencing the efficacy, longevity, and safety of electroporation-assisted plasmid-based gene transfer into mouse muscles

artículo científico publicado en 2004

Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α–ε subunit interface

Fibronectin is a serum biomarker for Duchenne muscular dystrophy

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA).

artículo científico publicado en 2017

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome

artículo científico publicado en 2007

Future of Rare Diseases Research 2017-2027: an IRDiRC Perspective

artículo científico publicado en 2017

GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice.

artículo científico publicado en 2018

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

artículo científico publicado en 2015

GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description

scientific article published on 03 October 2018

GNE myopathy: from clinics and genetics to pathology and research strategies.

artículo científico publicado en 2018

GNE protein expression and subcellular distribution are unaltered in HIBM.

artículo científico publicado en 2007

Generation, validation, and large scale production of adenoviral recombinants with large size inserts such as a 6.3 kb human dystrophin cDNA.

artículo científico publicado en 1997

Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort

scientific article published on 08 August 2019

Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes

artículo científico publicado en 2011

Genetic heterogeneity of motor neuropathies

artículo científico publicado en 2017

Genomic integration of adenoviral gene transfer vectors following transduction of fertilized mouse oocytes

artículo científico publicado en 2010

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland

artículo científico publicado en 2015

Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle

Gentamicin treatment in McArdle disease: Failure to correct myophosphorylase deficiency

artículo científico publicado en 2006

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9

scientific article published on 28 April 2020

Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1).

artículo científico publicado en 2015

Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review

artículo científico publicado en 2019

Health-related quality of life in patients with Duchenne muscular dystrophy: a multinational, cross-sectional study

artículo científico publicado en 2015

Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia

artículo científico publicado en 2009

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

artículo científico publicado en 2011

High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany

artículo científico publicado en 2008

Homozygosity for CCTG mutation in myotonic dystrophy type 2.

artículo científico publicado en 2004

Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease

artículo científico publicado en 2003

How reference networks develop, implement, and monitor guidelines.

artículo científico publicado en 2012

How to Spot Congenital Myasthenic Syndromes Resembling the Lambert-Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features

artículo científico publicado en 2018

Human Neurotrophin Receptor p75NTR Defines Differentiation-Oriented Skeletal Muscle Precursor Cells: Implications for Muscle Regeneration

Human muscle cells express a B7-related molecule, B7-H1, with strong negative immune regulatory potential: a novel mechanism of counterbalancing the immune attack in idiopathic inflammatory myopathies

artículo científico publicado en 2003

Human muscle cells express the costimulatory molecule B7-H3, which modulates muscle-immune interactions

scholarly article by Anne Waschbisch et al published November 2008 in Arthritis and Rheumatism

Human myoblasts modulate the function of antigen-presenting cells

article published in 2008

Human skeletal muscle-derived CD133(+) cells form functional satellite cells after intramuscular transplantation in immunodeficient host mice

artículo científico publicado en 2014

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome

artículo científico publicado en 2016

Identification of novel, therapy-responsive protein biomarkers in a mouse model of Duchenne muscular dystrophy by aptamer-based serum proteomics

artículo científico publicado en 2015

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

scientific journal article

Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations

artículo científico publicado en 2006

Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies

artículo científico publicado en 2020

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework

artículo científico publicado en 2017

Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity

artículo científico publicado en 2020

Improving the informed consent process in international collaborative rare disease research: effective consent for effective research

artículo científico publicado en 2016

In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes

artículo científico publicado en 2009

In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion

artículo científico publicado en 2012

Inclusion body myositis: laser microdissection reveals differential up-regulation of IFN-γ signaling cascade in attacked versus nonattacked myofibers

artículo científico publicado en 2011

Incomplete description of the current body of evidence of the health economics of Duchenne muscular dystrophy

article

Increased susceptibility to ATP via alteration of P2X receptor function in dystrophic mdx mouse muscle cells.

artículo científico publicado en 2006

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

scientific article published on 23 June 2019

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

artículo científico publicado en 2003

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

artículo científico publicado en 2010

Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies

scientific article published on 09 September 2020

Intercellular exchanges of membrane fragments (trogocytosis) between human muscle cells and immune cells: a potential mechanism for the modulation of muscular immune responses.

artículo científico publicado en 2009

Interferons impair early transgene expression by adenovirus-mediated gene transfer in muscle cells

artículo científico publicado en 1998

International Charter of principles for sharing bio-specimens and data

artículo científico publicado en 2015

International Charter of principles for sharing bio-specimens and data.

artículo científico publicado en 2016

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

artículo científico

Intersection of Proteomics and Genomics to "Solve the Unsolved" in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases.

artículo científico publicado en 2017

Interventions for muscular dystrophy: molecular medicines entering the clinic

artículo científico publicado en 2009

Intolerance to ß-blockade in a mouse model of δ-sarcoglycan-deficient muscular dystrophy cardiomyopathy

artículo científico publicado en 2010

Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes

artículo científico publicado en 2017

Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H.

artículo científico publicado en 2009

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

artículo científico publicado en 2005

Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

Late onset in dysferlinopathy widens the clinical spectrum

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

artículo científico publicado en 2010

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)

artículo científico publicado en 2006

Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis

artículo científico publicado en 2020

Limb Girdle Muscular Dystrophies

Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation

artículo científico publicado en 2018

Limb–girdle muscular dystrophies

article published in 2008

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.

artículo científico publicado en 2017

Linker molecules between laminins and dystroglycan ameliorate laminin-alpha2-deficient muscular dystrophy at all disease stages

artículo científico publicado en 2007

Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells

artículo científico publicado en 2004

Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study

artículo científico publicado en 2020

Long-term blocking of calcium channels in mdx mice results in differential effects on heart and skeletal muscle

artículo científico publicado en 2010

Long-term follow-up in patients with CCFDN syndrome

artículo científico publicado en 2014

Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations

artículo científico publicado en 2009

Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine

article

Long-term preservation of cardiac structure and function after adeno-associated virus serotype 9-mediated microdystrophin gene transfer in mdx mice

artículo científico publicado en 2012

Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy

artículo científico publicado en 2019

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles

artículo científico publicado en 2020

Lower limb radiology of distal myopathy due to the S60F myotilin mutation

scientific article published on 03 July 2009

MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses

artículo científico publicado en 2019

MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes

artículo científico publicado en 2017

MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide

artículo científico publicado en 2017

MRC Centre for Neuromuscular Diseases 1st (1st December 2010), and 2nd (2nd May 2012) myotonic dystrophy workshops, London, UK and the myotonic dystrophy standards of care and national registry meeting, Newcastle, UK July 2011.

artículo científico publicado en 2013

MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion.

artículo científico publicado en 2018

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

artículo científico publicado en 2013

Mass spectrometry-based protein analysis to unravel the tissue pathophysiology in Duchenne muscular dystrophy

artículo científico publicado en 2017

Measuring Habitual Physical Activity in Neuromuscular Disorders: A Systematic Review

scientific article published on January 2017

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

artículo científico publicado en 2020

Metabolic stroke in childhood: Diagnostic approach and suggestions for therapy

Methionine homozygosity at prion gene codon 129 may predispose to sporadic inclusion-body myositis

artículo científico publicado en 1999

Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number

artículo científico publicado en 2006

Missense mutations of ACTA1 cause dominant congenital myopathy with cores

artículo científico publicado en 2004

Mitochondrial DNA deletions in muscle satellite cells: implications for therapies

artículo científico publicado en 2013

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

artículo científico publicado en 2018

Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation

artículo científico publicado en 2007

Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy

artículo científico publicado en 2018

Modulation of Agrin and RhoA Pathways Ameliorates Movement Defects and Synapse Morphology in MYO9A-Depleted Zebrafish

artículo científico publicado en 2019

Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome

scientific article published on 17 December 2020

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

artículo científico publicado en 2009

Molecular characterisation of congenital myasthenic syndromes in Southern Brazil

article

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation.

artículo científico publicado en 2018

Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran

artículo científico publicado en 2020

Muscle MRI findings in limb girdle muscular dystrophy type 2L

article

Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials

scholarly article by Jordi Diaz-Manera et al published October 2018 in Journal of Neurology, Neurosurgery and Psychiatry

Muscle fibres and cultured muscle cells express the B7.1/2-related inducible co-stimulatory molecule, ICOSL: implications for the pathogenesis of inflammatory myopathies

artículo científico publicado en 2003

Muscle pathology in 57 patients with myotonic dystrophy type 2

scholarly article by Benedikt Schoser et al published 2 January 2004 in Muscle and Nerve

Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies

artículo científico publicado en 2014

Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy

artículo científico

Muscular dystrophy in dysferlin-deficient mouse models

artículo científico publicado en 2013

Mutation history of the roma/gypsies

artículo científico publicado en 2004

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

artículo científico publicado en 2009

Mutation in dystrophin-encoding gene affects energy metabolism in mouse myoblasts

artículo científico publicado en 2009

Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease

article

Mutations alter secretion of fukutin-related protein

artículo científico publicado en 2010

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

artículo científico publicado en 2009

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.

artículo científico publicado en 2013

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

artículo científico publicado en 2015

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

artículo científico publicado en 2017

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

artículo científico publicado en 2005

Mutations in dynamin 2 cause dominant centronuclear myopathy

artículo científico publicado en 2005

Mutations in glycyl-tRNA-synthetase impair mitochondrial metabolism in neurons.

artículo científico publicado en 2018

Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy

artículo científico publicado en 2005

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

artículo científico publicado en 2014

Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy

artículo científico publicado en 2013

Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb

scientific journal article

Myology and ethnic minorities: all roads lead to the Roma

artículo científico publicado en 2015

Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis

Myopathy with trabecular muscle fibers

artículo científico publicado en 1999

Myotonic ADR-MDX mutant mice show less severe muscular dystrophy than MDX mice1Part of this work was presented at the meeting of the German Physiological Society in Rostock, March 1997.1

article

NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome

artículo científico publicado en 2012

NF-kappaB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A

artículo científico publicado en 2008

Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease.

artículo científico publicado en 2017

Nemaline cardiomyopathy in a young adult: an ultraimmunohistochemical study and review of the literature.

artículo científico publicado en 2000

Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy

article

Neue Gesichtspunkte zur Pathogenese und Therapie der sporadischen Einschlusskörpermyositis (s-IBM)

artículo científico publicado en 2001

Neurology in sub-Saharan Africa: a challenge for World Federation of Neurology

artículo científico publicado en 2007

Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C ⬇️

artículo científico publicado en 2018

Neuromuscular disorders and 2010: recent advances

artículo científico publicado en 2010

Neuromyotonia, myocloni, sensory neuropathy and cerebellar symptoms in a patient with antibodies to neuronal nucleoproteins (anti-Hu-antibodies)

artículo científico publicado en 1999

New aspects on patients affected by dysferlin deficient muscular dystrophy

artículo científico publicado en 2009

New treatments for neuromuscular disease: optimism and obstacles

artículo científico publicado en 2008

No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations

artículo científico publicado en 2008

No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation

artículo científico publicado en 2005

Noninvasive 13 C-Octanoic Acid Breath Test Shows Delayed Gastric Emptying in Patients with Amyotrophic Lateral Sclerosis

article published in 1999

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease

artículo científico publicado en 2007

Novel approaches to treat muscular dystrophies

artículo científico publicado en 2001

Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family

artículo científico publicado en 2010

Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy

article

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

artículo científico publicado en 2010

Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome.

artículo científico publicado en 2004

Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients.

artículo científico publicado en 2011

Optimization of Internally Deleted Dystrophin Constructs

artículo científico publicado en 2016

P2X7 purinoceptor alterations in dystrophic mdx mouse muscles: relationship to pathology and potential target for treatment

artículo científico publicado en 2012

Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys

artículo científico publicado en 2007

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

artículo científico publicado en 2003

Pathological consequences of VCP mutations on human striated muscle

artículo científico publicado en 2006

Patient Preferences for Treatments of Neuromuscular Diseases: A Systematic Literature Review

artículo científico publicado en 2017

Patient Registries and Trial Readiness in Myotonic Dystrophy--TREAT-NMD/Marigold International Workshop Report.

artículo científico publicado en 2009

Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy

scientific article published on 04 April 2019

Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation

artículo científico publicado en 2005

Phenotypic convergence of Menkes and Wilson disease

artículo científico publicado en 2016

Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene

artículo científico publicado en 2011

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

artículo científico publicado en 2006

Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion

artículo científico publicado en 2017

Phenotypic variability of TRPV4 related neuropathies

artículo científico publicado en 2015

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

artículo científico publicado en 2007

Position Statement: Sharing of Clinical Research Data in Spinal Muscular Atrophy to Accelerate Research and Improve Outcomes for Patients.

artículo científico publicado en 2018

Predictors of Health-Related Quality of Life in boys with Duchenne muscular dystrophy from six European countries

artículo científico publicado en 2017

Presymptomatic late-onset Pompe disease identified by the dried blood spot test

artículo científico publicado en 2012

Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.

artículo científico publicado en 2017

Privacy-Preserving Linkage of Genomic and Clinical Data Sets

artículo científico publicado en 2018

Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective

artículo científico publicado en 2017

Promoter Dependence of Plasmid–Pluronics Targeted α Galactosidase A Expression in Skeletal Muscle of Fabry Mice

artículo científico publicado en 2005

Prospects of gene therapy for genetic skeletal muscle disease

article

Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy

artículo científico publicado en 2014

Psychometric analysis of the Pediatric Quality of Life Inventory 3.0 Neuromuscular Module administered to patients with Duchenne muscular dystrophy: A Rasch analysis

artículo científico publicado en 2018

Psychometric properties of the Zarit Caregiver Burden Interview administered to caregivers to patients with Duchenne muscular dystrophy: a Rasch analysis

artículo científico publicado en 2017

Quality of life of patients with spinal muscular atrophy: A systematic review

artículo científico publicado en 2019

Quantifying the burden of caregiving in Duchenne muscular dystrophy

artículo científico publicado en 2016

Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study

artículo científico publicado en 2014

Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study

artículo científico publicado en 2013

RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.

artículo científico publicado en 2018

RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research

artículo científico publicado en 2014

Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

artículo científico publicado en 2024

Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion

artículo científico publicado en 2016

Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia

artículo científico publicado en 2015

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.

artículo científico publicado en 2018

Recommendations for Improving the Quality of Rare Disease Registries

Reduced serum myostatin concentrations associated with genetic muscle disease progression

artículo científico publicado en 2017

Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.

artículo científico publicado en 2009

Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries

scientific article published on 11 October 2019

Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy

artículo científico publicado en 2017

Response to provincial governments' decisions regarding monitoring for adults with Spinal Muscular Atrophy

artículo científico publicado en 2020

Reverse protein arrays as novel approach for protein quantification in muscular dystrophies

Reversible molecular pathology of skeletal muscle in spinal muscular atrophy

scientific article published on 12 August 2011

Risk of developing a mitochondrial DNA deletion disorder

artículo científico publicado en 2004

Risk of skin cancer among patients with myotonic dystrophy type 1 based on primary care physician data from the U.K. Clinical Practice Research Datalink.

artículo científico publicado en 2017

Role of international registries in enhancing the care of familial hypercholesterolaemia

artículo científico

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

artículo científico publicado en 2009

SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human

scientific article published on 20 November 2018

SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy

SPARC Interacts with Actin in Skeletal Muscle in Vitro and in Vivo

artículo científico publicado en 2016

Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational Study

artículo científico publicado en 2019

Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome

artículo científico publicado en 2019

Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation

artículo científico publicado en 2013

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.

artículo científico publicado en 2013

Sarcoglycanopathies

scientific article published on January 2011

Sarcoglycans take center stage in gene transfer therapy

article

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.

artículo científico publicado en 2007

Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry

artículo científico publicado en 2002

Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD).

artículo científico publicado en 2011

Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene

scientific article published on 24 February 2020

Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele

Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).

artículo científico publicado en 2006

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

scientific article published on 01 March 2020

Simultaneous dystrophin and dysferlin deficiencies associated with high-level expression of the coxsackie and adenovirus receptor in transgenic mice

artículo científico publicado en 2006

Sleepiness and Sleep-related Breathing Disorders in Myotonic Dystrophy and Responses to Treatment: A Prospective Cohort Study

artículo científico publicado en 2016

Stages of sleep pathology in spinocerebellar ataxia type 2 (SCA2).

artículo científico publicado en 2006

Strategies for muscle-specific targeting of adenoviral gene transfer vectors

artículo científico publicado en 2002

Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I.

artículo científico publicado en 2013

Sympathetic innervation controls homeostasis of neuromuscular junctions in health and disease

artículo científico publicado en 2016

Synaptic Congenital Myasthenic Syndrome in Three Patients due to a Novel Missense Mutation (T441A) of theCOLQGene

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy

artículo científico publicado en 2014

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

artículo científico publicado en 2020

Targeted exon skipping to correct exon duplications in the dystrophin gene.

artículo científico publicado en 2014

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

artículo científico publicado en 2010

Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome

article

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study

artículo científico publicado en 2018

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.

artículo científico publicado en 2008

The Clinical Outcome Study for dysferlinopathy: An international multicenter study

artículo científico publicado en 2016

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

artículo científico publicado en 2014

The Human Phenotype Ontology in 2017

artículo científico publicado en 2016

The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes.

artículo científico publicado en 2017

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.

artículo científico publicado en 2017

The Position of Neuromuscular Patients in Shared Decision Making. Report from the 235th ENMC Workshop: Milan, Italy, January 19-20, 2018

artículo científico publicado en 2019

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

artículo científico publicado en 2015

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

artículo científico

The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases

artículo científico publicado en 2013

The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research

artículo científico publicado en 2017

The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes.

artículo científico publicado en 2018

The burden of Duchenne muscular dystrophy: an international, cross-sectional study

artículo científico publicado en 2014

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

artículo científico publicado en 2007

The neurotrophin receptor p75NTR is induced on mature myofibres in inflammatory myopathies and promotes myotube survival to inflammatory stress

article published in 2012

The non-classical MHC molecule HLA-G protects human muscle cells from immune-mediated lysis: implications for myoblast transplantation and gene therapy

artículo científico publicado en 2003

The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein: Results from trials in healthy adults and patients with spinal muscular atrophy

scientific article published on 30 October 2018

The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy

article

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.

artículo científico publicado en 2011

The principles of gene therapy for the nervous system

artículo científico publicado en 1996

The risk of re-identification versus the need to identify individuals in rare disease research

artículo científico publicado en 2016

The role of biobanking in rare diseases: European consensus expert group report

artículo científico

The scope of gene therapy in humans: scientific, safety and ethical considerations

artículo científico publicado en 1997

The short MCK1350 promoter/enhancer allows for sufficient dystrophin expression in skeletal muscles of mdx mice

artículo científico publicado en 2002

The spread of transgene expression at the site of gene construct injection.

artículo científico publicado en 2001

The ubiquitin-selective chaperone CDC-48/p97 links myosin assembly to human myopathy

artículo científico publicado en 2007

Therapeutic strategies in congenital myasthenic syndromes

artículo científico publicado en 2008

Therapie der Muskeldystrophien

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

artículo científico publicado en 2013

Toxicity of replication-defective adenoviral recombinants in dissociated cultures of nervous tissue

artículo científico publicado en 1996

Tracking disease progression non-invasively in Duchenne and Becker muscular dystrophies

Transition from childhood to adulthood in Duchenne muscular dystrophy (DMD)

Translating the genomics revolution: the need for an international gene therapy consortium for monogenic diseases

artículo científico publicado en 2013

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function

artículo científico publicado en 2017

Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial

artículo científico publicado en 2013

Treatment of glycogenosis type V with ketogenic diet

article by Verena Busch et al published 27 July 2005 in Annals of Neurology

Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy

artículo científico publicado en 2020

Two new protocols to enhance the production and isolation of human induced pluripotent stem cell lines

artículo científico publicado en 2010

Two recurrent mutations are associated with GNE myopathy in the North of Britain.

artículo científico publicado en 2014

U7 snRNAs induce correction of mutated dystrophin pre-mRNA by exon skipping

artículo científico publicado en 2003

UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry

Undiagnosed genetic muscle disease in the north of England: an in depth phenotype analysis

artículo científico publicado en 2013

Unusual features in a boy with the rapsyn N88K mutation

artículo científico publicado en 2006

Use of the dog model for Duchenne muscular dystrophy in gene therapy trials.

artículo científico publicado en 1997

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

artículo científico publicado en 2014

Variable reduction of caveolin-3 in patients with LGMD2B/MM.

artículo científico publicado en 2003

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

artículo científico publicado en 2012

What message does the nuclear envelope hold?

artículo científico publicado en 2007

What's in the serum of seronegative MG and LEMS?: MuSK et al

artículo científico publicado en 2002

When running a stop sign may be a good thing

artículo científico publicado en 2001

Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome.

artículo científico publicado en 2018

[Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family]

artículo científico publicado en 2005

genotype explains 20% of phenotypic variability in GNE myopathy

article published in 2019

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