List of works - Maja von der Hagen

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

scientific article

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

scientific article published on 17 August 2006

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

scientific article

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

scientific article published on 25 March 2014

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

scientific article

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

scientific article published on 10 April 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.

scientific article

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

scientific article

Diagnostic value of partial exome sequencing in developmental disorders

scientific article published in PLoS ONE

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

scientific article

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.

scientific article

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

scientific article

Growth and psychomotor development of patients with Duchenne muscular dystrophy

scientific article published on 25 September 2013

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

scientific article

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

scientific article published in September 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

scientific article

Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture.

scientific article published on May 2015

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

scientific article

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.

scientific article published on 7 March 2016

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

scientific article published on 18 December 2018

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

scientific article published on February 2013

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

scientific article published on 23 July 2020

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

scientific article

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

scientific article published on 3 November 2016

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

scientific article published on 7 August 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

scientific article

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

scientific article published on 04 October 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

scientific article published on 12 August 2020

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

scientific article

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

scientific article published on 22 October 2007

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

scientific article published on 18 March 2019

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

scientific article published on 26 August 2010

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

scientific article published on 01 January 2020

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

scientific article

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

scientific article

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

scientific article

[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

List of works by Maja von der Hagen

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