Lista de obras -

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

artículo científico publicado en 2018

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

artículo científico publicado en 2006

Childhood primary large vessel CNS vasculitis: single-centre experience and review of the literature

artículo científico publicado en 2017

Clinical Perspective on Primary Angiitis of the Central Nervous System in Childhood (cPACNS)

scientific article published on 03 July 2020

Clinical phenotypes of MAGEL2 mutations and deletions

artículo científico publicado en 2014

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

Correction: Diagnostic value of partial exome sequencing in developmental disorders

scientific article published on 24 September 2020

Deep brain stimulation in the globus pallidus compensates response inhibition deficits: evidence from pantothenate kinase-associated neurodegeneration

artículo científico publicado en 2015

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

article

Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.

artículo científico publicado en 2017

Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature

artículo científico publicado en 2014

Diagnostic value of partial exome sequencing in developmental disorders

artículo científico publicado en 2018

Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient

artículo científico publicado en 2015

Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial.

artículo científico publicado en 2019

Executive Function Deficits in Seriously Ill Children-Emerging Challenges and Possibilities for Clinical Care.

artículo científico publicado en 2018

Growth and psychomotor development of patients with Duchenne muscular dystrophy

artículo científico publicado en 2013

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

artículo científico publicado en 2011

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

artículo científico publicado en 2009

Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders

scientific article published on 18 October 2019

Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy

artículo científico publicado en 2005

Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture.

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

article

Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure.

artículo científico publicado en 2016

Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome

artículo científico publicado en 2018

Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.

artículo científico publicado en 2013

Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome

artículo científico publicado en 2020

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability

artículo científico publicado en 2012

Response to: 'JAK inhibition in STING-associated interferonopathy' by Crow et al.

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Selenoprotein N muscular dystrophy: differential diagnosis for early-onset limited mobility of the spine

article

Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure

artículo científico publicado en 2005

Tasks and interfaces in primary and specialized palliative care for Duchenne muscular dystrophy - A patients' perspective

artículo científico publicado en 2020

The clinical, histological, and genotypic spectrum of SEPN1-related myopathy: A case series

scientific article published on 13 August 2020

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification

artículo científico publicado en 2020

The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice

artículo científico publicado en 2005

The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy

artículo científico publicado en 2007

The prevalence of headache in German pupils of different ages and school types

artículo científico publicado en 2019

Treatment of Duchenne muscular dystrophy with ciclosporin A: a randomised, double-blind, placebo-controlled multicentre trial

artículo científico publicado en 2010

Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1

artículo científico publicado en 2020

Two novel nebulin variants in an adult patient with congenital nemaline myopathy.

artículo científico publicado en 2015

Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation.

artículo científico publicado en 2016

Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene

artículo científico publicado en 2017

[Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec-AVXS-101 : Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of t

scientific article published on 11 May 2020

Lista de obras de

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

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

Childhood primary large vessel CNS vasculitis: single-centre experience and review of the literature

Clinical Perspective on Primary Angiitis of the Central Nervous System in Childhood (cPACNS)

Clinical phenotypes of MAGEL2 mutations and deletions

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

Correction: Diagnostic value of partial exome sequencing in developmental disorders

Deep brain stimulation in the globus pallidus compensates response inhibition deficits: evidence from pantothenate kinase-associated neurodegeneration

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.

Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature

Diagnostic value of partial exome sequencing in developmental disorders

Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient

Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial.

Executive Function Deficits in Seriously Ill Children-Emerging Challenges and Possibilities for Clinical Care.

Growth and psychomotor development of patients with Duchenne muscular dystrophy

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

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

Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders

Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy

Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture.

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

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

Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure.

Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome

Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.

Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability

Response to: 'JAK inhibition in STING-associated interferonopathy' by Crow et al.

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

Selenoprotein N muscular dystrophy: differential diagnosis for early-onset limited mobility of the spine

Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure

Tasks and interfaces in primary and specialized palliative care for Duchenne muscular dystrophy - A patients' perspective

The clinical, histological, and genotypic spectrum of SEPN1-related myopathy: A case series

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification

The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice

The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy

The prevalence of headache in German pupils of different ages and school types

Treatment of Duchenne muscular dystrophy with ciclosporin A: a randomised, double-blind, placebo-controlled multicentre trial

Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1

Two novel nebulin variants in an adult patient with congenital nemaline myopathy.

Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation.

Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene

[Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec-AVXS-101 : Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of t