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Lista de obras de Corrado Angelini

"I have got something positive out of this situation": psychological benefits of caregiving in relatives of young people with muscular dystrophy.

artículo científico publicado en 2013

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network

artículo científico publicado en 2016

A Point Mutation in the 5' Splice Site of the Dystrophin Gene First Intron Responsible for X-Linked Dilated Cardiomyopathy

article

A childhood case of hypokalemic periodic paralysis

artículo científico publicado en 1984

A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy

scientific article published on 01 September 2000

A new family with transportinopathy: increased clinical heterogeneity

scientific article published on 09 June 2019

A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation

artículo científico publicado en 2001

A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype

artículo científico publicado en 2022

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.

artículo científico publicado en 2016

A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function

artículo científico publicado en 2008

A novel laminin 2 isoform in severe laminin 2 deficient congenital muscular dystrophy

article

A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E

scientific article published on 15 January 2005

A pilot trial with clenbuterol in amyotrophic lateral sclerosis

artículo científico publicado en 2006

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

artículo científico publicado en 2010

A study on duplications of the dystrophin gene: evidence of a geographical difference in the distribution of breakpoints by intron

scientific article published on 01 July 1994

A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres.

artículo científico publicado en 2007

ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion

artículo científico publicado en 2011

ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities

artículo científico publicado en 2017

Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues

article

Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele.

artículo científico publicado en 2010

Abnormal myomuscular junctions and AChE in a congenital neuromuscular disease

artículo científico publicado en 1980

Absence of dystrophin and spectrin in regenerating muscle fibers from Becker dystrophy patients

artículo científico publicado en 1994

Activities of mitochondrial complexes correlate with nNOS amount in muscle from ALS patients

scientific article published on 01 April 2007

Adult acid maltase deficiency. Abnormalities in fibroblasts cultured from patients

artículo científico publicado en 1972

Advances in imaging of brain abnormalities in neuromuscular disease

artículo científico publicado en 2019

Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency

Alterations in Notch signalling in skeletal muscles from mdx and dko dystrophic mice and patients with Duchenne muscular dystrophy

artículo científico publicado en 2014

An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps

artículo científico publicado en 2012

Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells ⬇️

artículo científico publicado el 31 de mayo de 2012

Assessment of the value of thymic scan in myasthenia gravis

artículo científico publicado en 1979

Association between human polymorphic DNA markers and hypoxia adaptation in Sherpa detected by a preliminary genome scan

scientific article published on 15 March 2007

Atrio-ventricular conduction system in myotonic dystrophy: value of electrophysiological investigation

artículo científico publicado en 1981

Authors' reply

artículo científico publicado en 2019

Autoimmune neuromuscular disease induced by a preparation of choline acetyltransferase

artículo científico publicado en 1982

Autonomic regulation in muscular dystrophy

artículo científico publicado en 2013

Autophagy dysregulation in Danon disease.

artículo científico publicado en 2017

Autophagy in Natural History and After ERT in Glycogenosis Type II.

artículo científico publicado en 2015

Benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract

artículo científico publicado el 7 de julio de 1976

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

artículo científico publicado en 1995

Biochemical and ultrastructural evidence of endoplasmic reticulum stress in LGMD2I.

artículo científico publicado en 2007

Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2.

artículo científico publicado en 2010

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

article

Burden, professional support, and social network in families of children and young adults with muscular dystrophies.

artículo científico publicado en 2015

CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis.

artículo científico publicado en 2012

Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.

artículo científico publicado en 2012

Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population

scientific article published on 01 March 1999

Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy

scientific article published on 01 March 2001

Calpainopathy

artículo científico publicado en 2017

Can miR-34a be suitable for monitoring sensorineural hearing loss in patients with mitochondrial disease? A case series

artículo científico publicado en 2020

Cardiac and respiratory involvement in advanced stage Duchenne muscular dystrophy

artículo científico publicado en 1996

Cardiac involvement in Becker muscular dystrophy.

artículo científico publicado en 1993

Cardioembolic stroke in Danon disease

artículo científico publicado en 2008

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

artículo científico publicado en 2012

Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome ⬇️

artículo científico publicado el 2 de marzo de 1973

Carnitine and acyltransferase in experimental neurogenic atrophies: changes with treatment

scientific article published on 01 January 1984

Carnitine deficiency induced during hemodialysis and hyperlipidemia: effect of replacement therapy

artículo científico publicado en 1981

Carnitine deficiency of skeletal muscle: report of a treated case

artículo científico publicado en 1976

Carnitine deficiency, organic acidemias, and Reye's syndrome

artículo científico publicado en 1985

Carnitine deficiency: acute postpartum crisis

artículo científico publicado en 1978

Carnitine palmityl transferase deficiency: clinical variability, carrier detection, and autosomal-recessive inheritance

artículo científico publicado en 1981

Carnitine, carnitine acyltransferases, and rat brain function.

artículo científico publicado en 1982

Caspase 3 expression correlates with skeletal muscle apoptosis in Duchenne and facioscapulo human muscular dystrophy. A potential target for pharmacological treatment?

artículo científico publicado en 2001

Cerebellar ataxia and coenzyme Q10 deficiency

artículo científico publicado en 2003

Cerebral venous thrombosis at high altitude: A systematic review

artículo científico publicado en 2016

Changes in skeletal muscle histology and metabolism in patients undergoing exercise deconditioning: effect of propionyl-L-carnitine

artículo científico publicado en 1997

Changing Characteristics of Late-Onset Pompe Disease Patients in Italy: Data from the Pompe Registry

artículo científico publicado en 2015

Chapter 31: muscular dystrophy

artículo científico publicado en 2010

Childhood dermatomyositis associated with intracranial tumor and liver cysts

artículo científico publicado en 2006

Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment

artículo científico publicado en 1986

Circulating microRNAs as biomarkers of muscle differentiation and atrophy in ALS

artículo científico publicado en 2016

Clinical and genetic characterization of Chanarin–Dorfman syndrome

artículo científico publicado en 2008

Clinical and genetic characterization of an Italian family with slow-channel syndrome

scientific article published on 12 December 2018

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

artículo científico publicado en 2015

Clinical and hormonal aspects of male hypogonadism in myotonic dystrophy.

artículo científico publicado en 1996

Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations

artículo científico publicado en 2011

Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.

artículo científico publicado en 2005

Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study

artículo científico publicado en 2012

Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.

artículo científico publicado en 2003

Clinical and neuroimaging study of central nervous system in congenital myotonic dystrophy

artículo científico publicado en 1999

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

artículo científico publicado en 2016

Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.

artículo científico publicado en 2013

Clinical varieties of carnitine and carnitine palmitoyltransferase deficiency

artículo científico publicado en 1987

Clinical-molecular correlation in 104 mild X-linked muscular dystrophy patients: characterization of sub-clinical phenotypes

scientific article published on 01 July 1994

Co-segregation of LMNA and PMP22 gene mutations in the same family

article

Cognitive and psychiatric evaluation of 40 patients with myotonic dystrophy

artículo científico publicado en 1992

Cognitive impairment and (CTG)n expansion in myotonic dystrophy patients

artículo científico publicado en 1999

Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I.

artículo científico publicado en 2011

Comparative study of acid maltase deficiency. Biochemical differences between infantile, childhood, and adult types

artículo científico publicado en 1972

Comparative transcriptional and biochemical studies in muscle of myotonic dystrophies (DM1 and DM2).

artículo científico publicado en 2009

Comparison of muscle ultrastructure in myasthenia gravis with anti-MuSK and anti-AChR antibodies.

artículo científico publicado en 2010

Congenital muscular dystrophy with partial merosin deficiency and late onset epilepsy

artículo científico publicado en 1998

Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin-responsive, multiple acyl-CoA dehydrogenase deficiency patient

artículo científico publicado en 2006

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

artículo científico publicado en 2018

Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophy

artículo científico publicado en 1995

Correlation between clinical and molecular features in two MELAS families

artículo científico publicado en 1992

Correlation of clinical function and muscle CT scan images in limb-girdle muscular dystrophy

artículo científico publicado en 2000

Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A.

artículo científico publicado en 2007

Corrigendum to "Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both" [Neuromuscular Disorders 26/8 (2016) 549].

artículo científico publicado en 2017

Could utrophin rescue the myocardium of patients with dystrophin gene mutations?

scientific article published on 01 August 1999

Cross-reactive protein in Duchenne muscle

artículo científico publicado en 1989

Decorin and biglycan expression is differentially altered in several muscular dystrophies

artículo científico publicado en 2005

Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1

article

Decreased fatty acid beta-oxidation in riboflavin-responsive, multiple acylcoenzyme A dehydrogenase-deficient patients is associated with an increase in uncoupling protein-3.

artículo científico publicado en 2003

Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes

artículo científico publicado en 2002

Defects of fatty-acid oxidation in muscle

artículo científico publicado en 1990

Deflazacort in Duchenne dystrophy: study of long-term effect

scientific article published on 01 April 1994

Detection of HTLV-I tax-rex and pol gene sequences of thymus gland in a large group of patients with myasthenia gravis

artículo científico publicado en 2002

Developmental patterns of LDH isozymes in fast and slow muscles of the rat

artículo científico publicado en 1970

Diagnosis and management of autoimmune myasthenia gravis

artículo científico publicado en 2011

Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis.

artículo científico publicado en 2011

Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy

artículo científico publicado en 2009

Discordant clinical outcome in myotonic dystrophy relatives showing (CTG)n > 700 repeats

artículo científico publicado en 1995

Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern

artículo científico publicado en 1996

Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study.

artículo científico publicado en 2016

Disorders of lipid metabolism

artículo científico publicado en 2007

Disruption of skeletal muscle mitochondrial network genes and miRNAs in amyotrophic lateral sclerosis

artículo científico publicado en 2012

Distinct Phenotypic and microRNA Expression in X-Linked Charcot–Marie–Tooth Correlated with a Novel Mutation in the GJB1 Gene

artículo científico publicado en 2022

Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

artículo científico publicado en 2013

Divergence of central nervous system involvement in 2 Italian sisters with congenital muscular dystrophy: a clinical and neuroradiological follow-up

scientific article published on 01 January 1995

Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.

artículo científico publicado en 2005

Dominant muscular dystrophy with a novelSYNE1gene mutation

article

Duchenne muscular dystrophy. A population study

artículo científico publicado en 1977

Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: threshold effect for deletion size?

artículo científico publicado en 1996

Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.

artículo científico publicado en 2004

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

artículo científico publicado en 1998

Dysferlinopathy course and sportive activity: clues for possible treatment

artículo científico publicado en 2011

Dystrophin-positive fibers in Duchenne dystrophy: origin and correlation to clinical course

scientific article published on 01 October 1995

Dystrophin-positive myotubes in innervated muscle cultures from Duchenne and Becker muscular dystrophy patients

scientific article published on 01 March 1993

EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia

artículo científico publicado en 2010

EFNS review on the role of muscle biopsy in the investigation of myalgia.

artículo científico

Early ultrastructural and biochemical changes in muscle in dystrophia myotonica

artículo científico publicado en 1970

Echocardiographic and pulsed Doppler features in glycogen storage disease type II of the heart (Pompe's disease)

artículo científico publicado en 1991

Effects of Functional Electrical Stimulation Lower Extremity Training in Myotonic Dystrophy Type I: A Pilot Controlled Study.

artículo científico publicado en 2016

Elevated Expression of Moesin in Muscular Dystrophies

artículo científico publicado en 2017

Enormous dystrophin in a patient with Becker muscular dystrophy

artículo científico publicado en 1990

Enzyme replacement therapy for Pompe disease.

artículo científico

Enzyme replacement therapy improves respiratory outcomes in patients with late-onset type II glycogenosis and high ventilator dependency.

artículo científico publicado en 2013

Epidemiology of ALS in Padova district, Italy, from 1992 to 2005.

artículo científico publicado en 2009

Epidemiology of Spinal Muscular Atrophies in a Sample of the Italian Population ⬇️

artículo científico publicado el 1 de enero de 1992

Epidemiology of motor neuron disease in north-east Veneto region: Venice, Padua, and Belluno Provinces (1972-1981)

scientific article published on 01 January 1987

Epidemiology of myotonic dystrophy in Italy: re-apprisal after genetic diagnosis

article

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

scholarly article published in Journal of Neurology

Esophageal motor function in patients with myotonic dystrophy

scientific article published on 01 October 1996

Evaluation of muscle biopsy in late-onset GSDII patients before and after enzyme replacement therapy (ERT).

artículo científico publicado en 2013

Evolution of cardiac involvement in progressive ophthalmoplegia with deleted mitochondrial DNA

artículo científico publicado en 1990

Exercise-induced recurrent myoglobinuria: defective activity of inner carnitine palmitoyltransferase in muscle mitochondria of two patients

artículo científico publicado en 1987

Exploring mental status in Friedreich's ataxia: a combined neuropsychological, behavioral and neuroimaging study

artículo científico publicado en 2006

Expression profiling characterization of laminin α-2 positive MDC

scientific article published on 25 September 2006

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes

artículo científico publicado en 2005

Facioscapulohumeral Muscular Dystrophy and Occurrence of Heart Arrhythmia

scientific article published on 27 June 2006

Facioscapulohumeral Muscular Dystrophy: A Multicenter Study on Hearing Function

artículo científico publicado en 2007

Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample.

artículo científico publicado en 2009

Familial ALS: clinical, genetic and morphological features

scientific article published on 01 January 1987

Familial neuromuscular disease with tubular aggregates

artículo científico publicado en 1985

Familial polyglucosan body myopathy with unusual phenotype

artículo científico publicado en 2015

Fatal lipid storage with abnormal mitochondria in an infant

artículo científico publicado en 1981

Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases.

artículo científico

Fatigue in muscular dystrophies

artículo científico publicado en 2012

Fingerprint body myopathy, a newly recognized congenital muscle disease

scientific article published on 01 June 1972

Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes

artículo científico publicado en 2009

Frequency of duplication at 17p11.2 in families of northeast Italy with Charcot-Marie-Tooth disease type 1

scientific article published on 01 January 1995

Friedreich's disease: V. Variant form with vitamin E deficiency and normal fat absorption

scientific article published on 01 January 1987

Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies

artículo científico publicado en 2016

Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia).

artículo científico publicado en 1992

GYG1 gene mutations in a family with polyglucosan body myopathy

artículo científico publicado en 2015

Gender difference in limb-girdle muscular dystrophy: a muscle fiber morphometric study in 101 patients

artículo científico publicado en 2014

Gene expression profiling in dysferlinopathies using a dedicated muscle microarray.

artículo científico publicado en 2002

Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease.

artículo científico publicado en 2006

Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM

artículo científico publicado en 2017

Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy

artículo científico publicado en 2015

Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy

artículo científico publicado en 1996

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

artículo científico publicado en 1997

Genetic epidemiology of myotonic dystrophy

scientific article published on 01 January 1987

Genetic variation in KIFAP3 is associated with an upper motor neuron-predominant phenotype in amyotrophic lateral sclerosis

artículo científico publicado en 2011

Genotype-phenotype correlation in Pompe disease, a step forward.

artículo científico publicado en 2014

Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency

artículo científico publicado en 2010

Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis

artículo científico publicado en 1997

Geographic distribution of hereditary myopathies in northeast Italy

artículo científico publicado en 1974

Glucose and ketone body turnover in carnitine-palmitoyl-transferase deficiency

artículo científico publicado en 1987

Guanidine hydrochloride in infantile and juvenile spinal muscular atrophy. A double blind controlled study

artículo científico publicado en 1980

Heart involvement in muscular dystrophies due to sarcoglycan gene mutations

artículo científico publicado en 1999

Heterogeneity of Charcot-Marie-Tooth disease suggested by a linkage study

scientific article published on 01 January 1988

High plasma creatine kinase: review of the literature and proposal for a diagnostic algorithm.

artículo científico publicado en 2006

How to tackle the diagnosis of limb-girdle muscular dystrophy 2A

artículo científico publicado en 2008

Human skeletal muscle atrophy in amyotrophic lateral sclerosis reveals a reduction in Akt and an increase in atrogin-1.

artículo científico publicado en 2006

Hypertrophic cardiomyopathy with mitochondrial myopathy. A new phenotype of complex II defect

artículo científico publicado en 1993

I-1History of Myology in Italy and its internationalcollections.

artículo científico publicado en 2011

I-4Long-term follow-up effects on enzymereplacement treatment of adult form of acid maltase deficiency myopathy.

artículo científico publicado en 2011

I-5. Mitochondrial disorders of the nuclear genome

artículo científico publicado en 2009

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

article

Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results

artículo científico publicado en 2016

Impaired autophagy affects acid α-glucosidase processing and enzyme replacement therapy efficacy in late-onset glycogen storage disease type II

artículo científico publicado en 2015

Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients

artículo científico publicado en 2012

Impaired copper and iron metabolism in blood cells and muscles of patients affected by copper deficiency myeloneuropathy

artículo científico publicado en 2014

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

artículo científico publicado en 2012

Improved diagnosis of Becker muscular dystrophy by dystrophin testing

scientific article published on 01 August 1989

Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants.

artículo científico publicado en 2013

Incomplete penetrance in limb-girdle muscular dystrophy type 1F

Increased aldosterone levels in acute mountain sickness at Capanna Regina Margherita

artículo científico publicado en 1997

Increases in walking distance in patients with peripheral vascular disease treated with L-carnitine: a double-blind, cross-over study

artículo científico publicado en 1988

Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

artículo científico publicado en 2005

Infantile lipid storage myopathy with nocturnal hypoventilation shows abnormal low-affinity muscle carnitine uptake in vitro

artículo científico publicado en 1999

Inhibition of muscle fibrosis results in increases in both utrophin levels and the number of revertant myofibers in Duchenne muscular dystrophy.

artículo científico publicado en 2015

Integrated care of muscular dystrophies in Italy. Part 1. Pharmacological treatment and rehabilitative interventions

artículo científico publicado en 2017

Integrin alpha 7 beta 1 in muscular dystrophy/myopathy of unknown etiology.

artículo científico publicado en 2002

Intellectual impairment and cognitive evoked potentials in myotonic dystrophy

artículo científico publicado en 1989

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

artículo científico publicado en 2020

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

artículo científico publicado en 2018

Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene

artículo científico publicado en 2006

Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene

artículo científico publicado en 2002

Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of duchenne muscular dystrophy ⬇️

artículo científico publicado el 1 de octubre de 1991

Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases

artículo científico publicado en 2010

L-carnitine uptake in differentiating human cultured muscle

artículo científico publicado en 1991

LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy

artículo científico publicado en 2004

LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing

artículo científico publicado en 2015

LGMD2E patients risk developing dilated cardiomyopathy

scientific article published on 01 May 2003

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.

artículo científico publicado en 2015

Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.

artículo científico publicado en 1998

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

artículo científico publicado en 2013

Large-scale disruption of microtubule pathways in morphologically normal human spastin muscle

artículo científico publicado en 2004

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

artículo científico publicado en 2012

Late-onset GSDII with novel GAA gene mutation

scientific article published on 01 April 2007

Letter: Carnitine deficiency ⬇️

artículo científico publicado el 20 de septiembre de 1975

Letter: Duchenne carrier detection

artículo científico publicado en 1976

Limb-girdle muscular dystrophies: heterogeneity of clinical phenotypes and pathogenetic mechanisms.

artículo científico publicado en 2004

Lipid storage myopathies. A review of metabolic defect and of treatment

artículo científico publicado en 1976

Lipolysis and lipophagy in lipid storage myopathies.

artículo científico publicado en 2016

Liver fatty acid-binding protein in two cases of human lipid storage

scientific article

Long-term cyclosporine treatment in a group of severe myasthenia gravis patients

artículo científico publicado en 1997

Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report

artículo científico publicado en 2010

Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.

artículo científico publicado en 2003

MELAS: clinical features, biochemistry, and molecular genetics

artículo científico publicado el 1 de abril de 1992

MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies

artículo científico publicado en 2010

Male Hypogonadism in Myotonic Dystrophy is Related to (Ctg)N Triplet Mutation

artículo científico publicado en 1994

Malonyl-CoA abnormal inhibition of residual enzyme activity in carnitine palmitoyltransferase deficiency

artículo científico publicado en 1986

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort

scientific article published on 01 July 2006

Memory deficits and retrieval processes in ALS.

artículo científico

Metabolic lipid muscle disorders: biomarkers and treatment

scientific article published on 22 April 2019

Metabolic myopathies: the challenge of new treatments

artículo científico publicado en 2010

MiRNAs, Myostatin, and Muscle MRI Imaging as Biomarkers of Clinical Features in Becker Muscular Dystrophy

scientific article published on 18 September 2020

Micro-RNA expression in muscle and fiber morphometry in myotonic dystrophy type 1.

artículo científico publicado en 2017

Micro-RNAs in ALS muscle: Differences in gender, age at onset and disease duration.

artículo científico publicado en 2017

MicroRNA signatures predict dysregulated vitamin D receptor and calcium pathways status in limb girdle muscle dystrophies (LGMD) 2A/2B.

artículo científico publicado en 2016

Microglia polarization by mitochondrial metabolism modulation: A therapeutic opportunity in neurodegenerative diseases

scientific article published on 19 September 2018

Mitochondria-lipid-glycogen (MLG) disease of muscle. A morphologically regressive congenital myopathy

artículo científico publicado en 1973

Mitochondria-lipid-glycogen (MLG) disease of muscle: a morphologically regressive congenital myopathy.

artículo científico publicado en 1973

Molecular and muscle pathology in a series of caveolinopathy patients

artículo científico publicado en 2005

Molecular characterization of myophosphorylase deficiency in a group of patients from northern Italy

artículo científico publicado en 1996

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

artículo científico publicado en 2004

Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency

scientific article published on 01 February 2008

Morphological changes in late onset acid Maltase deficient patients with splicing gene mutation

scientific article published on 01 December 2003

Motor function-muscle strength relationship in spinal muscular atrophy

Motor neuron disease in the Padua district of Italy: an epidemiological study

artículo científico publicado en 1996

MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells.

artículo científico publicado en 1995

Multicenter trial with ubidecarenone: treatment of 44 patients with mitochondrial myopathies.

artículo científico publicado en 1991

Multifactorial study of inflammatory myopathies. Report of 29 cases

scientific article published on 01 January 1993

Multiple symmetric lipomatosis: evidence for mitochondrial dysfunction

scientific article published on 01 March 2000

Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation.

artículo científico publicado en 1980

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures

scholarly article by Eugenio Mercuri et al published February 2005 in Neuromuscular Disorders

Muscle atrophy in Limb Girdle Muscular Dystrophy 2A: a morphometric and molecular study

artículo científico publicado en 2013

Muscle atrophy, ubiquitin-proteasome, and autophagic pathways in dysferlinopathy.

artículo científico publicado en 2014

Muscle carnitine deficiency in patients with severe peripheral vascular disease

scientific article published on 01 October 1991

Muscle exercise in limb girdle muscular dystrophies: pitfall and advantages.

artículo científico publicado en 2015

Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy

artículo científico publicado en 2014

Muscle glycerol kinase in Duchenne dystrophy and glycerol kinase deficiency

artículo científico publicado en 1989

Muscle histopathology in myasthenia gravis with antibodies against MuSK and AChR.

artículo científico publicado en 2009

Muscle histopathology in upper motor neuron-dominant amyotrophic lateral sclerosis

artículo científico publicado en 2008

Muscle pathology in dysferlin deficiency

artículo científico publicado en 2002

Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E

artículo científico publicado en 2006

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

artículo científico

Mutations in the sarcoglycan genes in patients with myopathy

artículo científico publicado en 1997

Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy

artículo científico publicado en 1996

Myoclonus in mitochondrial disorders

artículo científico publicado en 2014

Myoglobinuria and carnitine palmityltransferase (CPT) deficiency: studies with malonyl-CoA suggest absence of only CPT-II.

artículo científico publicado en 1984

MyomiRNAs and myostatin as physical rehabilitation biomarkers for myotonic dystrophy

artículo científico publicado en 2020

Myopathological findings in progressive myoclonus epilepsy

scientific article published on 01 January 1981

Myopathy with tubular aggregates and hypertrophic cardiomyopathy in a patient with type IIA von Willebrand disease

artículo científico publicado en 1996

Myophosphorylase deficiency affects muscle mitochondrial respiration as shown by 31P-MR spectroscopy in a case with associated multifocal encephalopathy

artículo científico publicado en 1995

Myosin heavy chain composition of muscle fibers in spinal muscular atrophy

artículo científico publicado en 1989

Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect

scientific article published on 01 October 1996

Myotonic dystrophy and chromosome translocation segregating in the same family

artículo científico publicado en 1987

Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation

article

Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.

artículo científico publicado en 1999

Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13

artículo científico publicado en 1995

Neuromuscular damage after hyperthermic isolated limb perfusion in patients with melanoma or sarcoma treated with chemotherapeutic agents

artículo científico publicado en 2000

Neuromuscular disease. Diagnosis and discovery in limb-girdle muscular dystrophy

scientific article published on 16 December 2015

Neuromuscular diseases: advances in therapy and diagnosis ⬇️

artículo científico publicado el 1 de enero de 2012

New Pathogenetic Mechanisms that Link Autophagy to Pompe Disease.

artículo científico publicado en 2015

New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy

artículo científico publicado en 2012

New therapies in muscular dystrophies.

artículo científico publicado en 2000

New treatments for myasthenia: a focus on antisense oligonucleotides

artículo científico

Next generation sequencing detection of late onset pompe disease

artículo científico publicado en 2016

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

artículo científico publicado en 2015

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F

artículo científico publicado en 2013

Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients

artículo científico publicado en 1994

Normal myogenesis and increased apoptosis in myotonic dystrophy type-1 muscle cells

artículo científico publicado en 2010

Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings

artículo científico publicado en 2015

Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis

article

Novel sarcoglycan gene mutations in a large cohort of Italian patients.

artículo científico publicado en 2003

Novel spastin mutations and their expression analysis in two Italian families

artículo científico publicado en 2003

Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration

artículo científico

O-3Clinical features and outcome measures during1 year enzyme replacement therapy in late onset GSD II patients.

artículo científico publicado en 2011

Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.

artículo científico publicado en 2011

Occurrence of two different intragenic deletions in two male relatives affected with Duchenne muscular dystrophy

scientific article published on 01 March 1994

Oculo cranio-somatic syndrome: mitochondrial alterations and lactic acidemia

artículo científico publicado en 1979

Old and new therapeutic developments in steroid treatment in Duchenne muscular dystrophy

artículo científico publicado en 2012

Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders.

artículo científico publicado en 2011

Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients.

artículo científico publicado en 2010

P-1Prognostic factors and course of myastheniagravis.

artículo científico publicado en 2011

P-2Two sisters with muscle lipid storage andcarnitine deficiency in muscle and plasma.

artículo científico publicado en 2011

P-4Evaluating therapy outcome in MystheniaGravis.

artículo científico publicado en 2011

P-9Construction of a database for a nation-wideItalian collaborative network of mitochondrial diseases.

artículo científico publicado en 2011

Parkinson-like features in ALS with predominant upper motor neuron involvement

artículo científico publicado en 2011

Peroneal muscular atrophy with ataxia and partial myoclonic epilepsy

scientific article published on 01 January 1981

Phenotype modulators in myophosphorylase deficiency

artículo científico publicado en 2003

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

artículo científico publicado en 2013

Pilot trial of clenbuterol in spinal and bulbar muscular atrophy

artículo científico publicado en 2013

Plasma and urine carnitine levels during development

scientific article published on 01 December 1980

Polyneuropathies due to adhesives. Histopathological and ultrastructural studies

artículo científico publicado en 1976

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

artículo científico publicado en 2011

Positive correlation of CTG expansion and pharyngoesophageal alterations in myotonic dystrophy patients

scientific article published on 01 April 1998

Postzygotic instability of the myotonic dystrophy p[AGC]n repeat supported by larger expansions in muscle and reduced amplifications in sperm

artículo científico publicado en 1995

Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats

artículo científico publicado en 1996

Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2

article by Valerio Pisani et al published 24 September 2008 in Muscle and Nerve

Prenatal diagnosis in a family affected with beta-sarcoglycan muscular dystrophy

artículo científico publicado en 1999

Prenatal diagnosis in congenital muscular dystrophy

artículo científico publicado en 1995

Prevalence of Asymptomatic Vertebral Fractures in Late-Onset Pompe Disease.

artículo científico publicado en 2015

Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease

artículo científico publicado en 2014

Prevalence of dystrophin-positive fibers in 85 Duchenne muscular dystrophy patients

artículo científico publicado en 1992

Prevalence of unsuspected myopathy in infants presenting for clubfoot surgery

artículo científico publicado en 1995

Prevalent cardiac involvement in dystrophin Becker type mutation

artículo científico publicado en 1994

Prevention of cardiomyopathy in Duchenne muscular dystrophy

artículo científico publicado en 2014

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

artículo científico publicado en 2015

Proceedings of the XI Congressof the Italian Associationof Myology Cagliari, May 2011: LGMD 1(F) - A pathogenetic hypothesis based on histopathology and ultrastructure.

artículo científico publicado en 2011

Prognostic factors in mild dystrophinopathies

artículo científico publicado en 1996

Progress and challenges in diagnosis of dysferlinopathy

artículo científico publicado en 2016

Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II

artículo científico publicado en 2009

Progressive supranuclear palsy: report of two cases (author's transl).

artículo científico publicado en 1975

Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls

artículo científico

Psychiatric disturbances associated with myasthenia gravis ⬇️

artículo científico publicado el 1 de abril de 1988

Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study

artículo científico publicado en 2014

Psychological aspects of neuromuscular diseases

artículo científico publicado en 1986

Psychopathological features and suicidal ideation in amyotrophic lateral sclerosis patients.

artículo científico publicado en 2010

Quality of life and motor impairment in ALS: Italian validation of ALSAQ.

artículo científico publicado en 2010

RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance.

scientific article published on April 1997

Radiological evidence of subclinical dysphagia in motor neuron disease

scientific article published on 01 April 1998

Reappraisal of the incidence rate of Duchenne and Becker muscular dystrophies on the basis of molecular diagnosis

artículo científico publicado en 1993

Recent advances and current clinical perspectives in the diagnosis and treatment of glycogenosis type II

artículo científico publicado en 2008

Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.

artículo científico publicado en 2013

Redefining phenotypes associated with mitochondrial DNA single deletion

artículo científico publicado en 2015

Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients.

artículo científico publicado en 1999

Regeneration in sarcoglycanopathies: expression studies of sarcoglycans and other muscle proteins

artículo científico publicado en 1999

Relationship between neuropsychological impairment and grey and white matter changes in adult-onset myotonic dystrophy type 1

artículo científico publicado en 2016

Relationship of serum enzyme changes to muscle damage in vitamin E deficiency of the rabbit

artículo científico publicado en 1968

Reliability of the North Star Ambulatory Assessment in a multicentric setting.

artículo científico publicado en 2009

Reply

Residual muscle cytochrome c oxidase activity accounts for submaximal exercise lactate threshold in chronic progressive external ophthalmoplegia

artículo científico publicado en 1996

Retrospective study on PET-SPECT imaging in a large cohort of myotonic dystrophy type 1 patients

artículo científico publicado en 2010

Review: Danon disease: Review of natural history and recent advances

scientific article published on 07 November 2019

Riboflavin therapy

artículo científico publicado en 1999

Right hemisphere dysfunction and emotional processing in ALS: an fMRI study.

artículo científico publicado en 2010

Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes

artículo científico publicado en 2012

Risk of arrhythmia in type I myotonic dystrophy: the role of clinical and genetic variables

scientific article published on 22 February 2009

Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients

artículo científico publicado en 2007

Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study

artículo científico publicado en 2003

S2.1 Enzyme replacement therapy (ERT)in Glycogen Storage Disease Type II:the first treatment developed

artículo científico publicado en 2011

SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy

artículo científico publicado en 2011

Sarcolemmal neuronal nitric oxide synthase defect in limb-girdle muscular dystrophy: an adverse modulating factor in the disease course?

artículo científico publicado en 2009

Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients ⬇️

artículo científico publicado el 1 de febrero de 1992

Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.

artículo científico publicado en 2006

Sensory, motor, and autonomic neuropathy in patients with multiple symmetric lipomatosis

artículo científico publicado en 1985

Sensory-motor conduction time in amyotrophic lateral sclerosis

artículo científico publicado en 1989

Serum lipids, lipoprotein analysis and apoprotein A-I, A-II and B levels in Friedreich's ataxia

artículo científico publicado en 1990

Single muscle fibre analyses in 2 brothers with succinate dehydrogenase deficiency.

artículo científico publicado en 1994

Skeletal muscle sarcoplasmic reticulum phenotype in myotonic dystrophy

scientific article published on 01 January 1996

Skeletal muscle satellite cells in amyotrophic lateral sclerosis

artículo científico publicado en 2014

Spectrum of metabolic myopathies

artículo científico

Sphingomonas paucimobilis associated with localised calf myositis

artículo científico publicado en 2008

Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females.

artículo científico publicado en 2007

State of the art in muscle glycogenoses

artículo científico publicado en 2010

Steroids in muscular dystrophy: where do we stand?

scientific article published on 01 August 1998

Subacute sensory ataxia and optic neuropathy with thiamine deficiency

artículo científico publicado en 2010

Subcellular distribution of acid and neutral alpha-glucosidases in normal, acid maltase deficient, and myophosphorylase deficient human skeletal muscle

scientific article published on 01 May 1973

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

artículo científico publicado en 1995

Syndrome of carnitine deficiency

artículo científico publicado en 1976

Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome

artículo científico publicado en 1980

TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.

artículo científico publicado en 2009

TDP-43 in skeletal muscle of patients affected with amyotrophic lateral sclerosis.

artículo científico publicado en 2010

TNF-α-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy

artículo científico publicado en 2015

Targeted array comparative genomic hybridization--a new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes

artículo científico publicado en 2012

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

article

Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I.

scientific article published on 09 January 2017

Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders

artículo científico publicado en 2006

Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases

artículo científico publicado en 2013

The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients

artículo científico publicado en 2008

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

artículo científico publicado en 2014

The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B).

artículo científico publicado en 2010

The clinical spectrum of sarcoglycanopathies

artículo científico publicado en 1999

The frequency of limb girdle muscular dystrophy 2A in northeastern Italy

artículo científico publicado en 2005

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

artículo científico publicado en 2016

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

artículo científico publicado en 2016

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

artículo científico publicado en 2013

The natural history of cardiac involvement in myotonic dystrophy: an eight-year follow-up in 17 patients

artículo científico publicado en 1988

The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII).

artículo científico publicado en 2012

The role of botulinum toxin injection and upper esophageal sphincter myotomy in treating oropharyngeal dysphagia

scientific article published on 01 December 2004

The role of life events in the myasthenia gravis outcome: a one-year longitudinal study

artículo científico publicado en 1989

The role of ultrastructural examination in storage diseases.

artículo científico publicado en 2010

Thymus gland scan in myasthenia gravis: experience in 52 patients

artículo científico publicado en 1978

Toxic myopathy induced by industrial minerals oils: clinical and histopathological features

artículo científico publicado en 1986

Transcriptional and translational effects of intronic CAPN3 gene mutations

artículo científico publicado en 2010

Transcriptional behavior of DMD gene duplications in DMD/BMD males

artículo científico publicado en 2009

Two novel cosegregating mutations in tRNAMet and COX III, in a patient with exercise intolerance and autoimmune polyendocrinopathy.

artículo científico publicado en 2009

Type 1 fiber abnormalities in skeletal muscle of patients with hypertrophic and dilated cardiomyopathy: evidence of subclinical myogenic myopathy

artículo científico publicado en 1989

Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial.

artículo científico publicado en 1990

Ultrastructural changes in LGMD1F

artículo científico publicado en 2012

Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism

artículo científico publicado en 2005

Undiagnosed myopathy before surgery and safe anaesthesia table

artículo científico

Unilateral calf hypertrophy due to S1-radiculopathy

artículo científico publicado en 2000

Variability of the expression of muscle mitochondrial damage in ocular mitochondrial myopathy

artículo científico publicado en 1992

X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant

artículo científico publicado en 1996

[Alterations of mitochondria in metabolic diseases. Carnitine deficiency, carnitine palmitoyltransferase deficiency and beta oxidation.]

scientific article published on 01 October 1989

[Aminoacid levels in Werding-Hoffmann and Kugelberg-Welander diseases (author's transl)]

artículo científico publicado en 1978

[An] enumeration shall be made…

scientific article published on 04 September 2015

[Behavior of serum isoenzymes of lactic dehydrogenase in various muscular diseases]

artículo científico publicado en 1970

[Case of polyomyositis with serious electroencephalographic changes. Relations between muscle lesions and functional damage of the central nervous system]

scientific article published on 01 April 1970

[Description of two cases of retrobrachiocephalic thymus gland]

artículo científico publicado en 1994

[Hypertrophic ischemic neuropathies]

artículo científico publicado en 1974

[Imaging of the thymus gland in myasthenia gravis (computerized tomography and magnetic resonance)]

scientific article published on 01 October 1995

[Lafora disease complicating myoclonus epilepsy. Report of 3 cases]

artículo científico publicado en 1980

[Myopathies caused by defects of lipid and carbohydrate metabolism]

artículo científico publicado en 1988

[Natural history of muscular dystrophy inferred from a multicenter trial and the results of a dietetic trial]

artículo científico publicado en 1986

[Preliminary study on the use of acetylcarnitine in patients with mental deterioration]

artículo científico publicado en 1982

[Report of two patients with fibromuscular dysplasia of the internal carotid artery (author's transl)]

artículo científico publicado en 1981

[Systemic carnitine deficiency: its place in Reye's syndrome (author's transl)]

scientific article published on 01 February 1981

[The heart in myotonic dystrophy. Clinical and instrumental study in 17 patients (author's transl)]

artículo científico publicado en 1980

[Therapy of Parkinson's disease with L-dopa. Preliminary considerations on 40 cases]

artículo científico publicado en 1970

[Thyrotoxic and hypothyroid myopathy. Biochemical and histopathological study]

artículo científico publicado en 1970

[Usefulness Of electromyographic examination of families of patients affected with hypertrophic sensory-motor neuropathy (Charcot-Marie-Tooth disease). Preliminary results]

scientific article published on 01 April 1984

alpha-Sarcoglycan (adhalin) deficiency: complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations

artículo científico publicado en 1996

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