List of works - Janbernd Kirschner

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

scientific article

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

scientific article published in November 2017

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

scientific article

ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia

scientific article

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

scientific article published on 17 March 2015

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

scientific article published in February 2018

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

scientific article

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4

scientific article

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

article

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

scientific article

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

scientific article

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

scientific article published on 26 August 2013

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

scientific article

Mitochondrial tubulopathy in tenofovir disoproxil fumarate-treated rats

scientific article published in July 2009

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

scientific article

Elevated satellite cell number in Duchenne muscular dystrophy

scientific article published on 15 May 2010

A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients

scientific article

Intravenously Administered Immunoglobulin in the Treatment of Childhood Guillain-Barre Syndrome: A Randomized Trial

scientific article published on 01 July 2005

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

scientific article

Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes

scientific article published on 01 January 2005

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.

scientific article

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations

scientific article published on 2 January 2013

Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology

scientific article published on 21 December 2013

p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria

scientific article published in January 2005

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

scientific article published on 27 October 2013

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome

scientific article published on 30 October 2013

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

scientific article published on 31 October 2014

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

scientific article published on 26 August 2010

Clinical impact of antibody formation to botulinum toxin A in children

scientific article

Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial.

scientific article

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

scientific article published on 10 November 2017

Drug treatment of Duchenne muscular dystrophy: available evidence and perspectives

scientific article

Methylphenidate enhances both intracortical inhibition and facilitation in healthy adults.

scientific article published in March 2003

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

scientific article published on 12 September 2019

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

scientific article published on 8 April 2015

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

scientific article published on 23 October 2013

Sarcoglycanopathies

scientific article published on January 2011

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

scientific journal article

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

scientific article

Predominant fiber atrophy and fiber type disproportion in early ullrich disease

scientific article

Medium-term functional benefits in children with cerebral palsy treated with botulinum toxin type A: 1-year follow-up using gross motor function measure

scientific article published in November 2001

Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.

scientific article

The congenital and limb-girdle muscular dystrophies: sharpening the focus, blurring the boundaries

scientific article published on February 2004

Adult care for Duchenne muscular dystrophy in the UK.

scientific article

Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum

scientific article published on 21 October 2016

Uridine supplementation antagonizes zalcitabine-induced microvesicular steatohepatitis in mice

Somatropin treatment of spinal muscular atrophy: a placebo-controlled, double-blind crossover pilot study

scientific article published on 13 November 2013

Evaluation of botulinum toxin A therapy in children with adductor spasm by gross motor function measure

scientific article published on 01 April 2000

Whole-body vibration training in children with Duchenne muscular dystrophy and spinal muscular atrophy

scientific article

List of works by Janbernd Kirschner

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia

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

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4

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

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

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

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

Mitochondrial tubulopathy in tenofovir disoproxil fumarate-treated rats

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

Elevated satellite cell number in Duchenne muscular dystrophy

A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients

Intravenously Administered Immunoglobulin in the Treatment of Childhood Guillain-Barre Syndrome: A Randomized Trial

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

Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations

Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology

p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria

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

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

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

Clinical impact of antibody formation to botulinum toxin A in children

Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial.

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

Drug treatment of Duchenne muscular dystrophy: available evidence and perspectives

Methylphenidate enhances both intracortical inhibition and facilitation in healthy adults.

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

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

Sarcoglycanopathies

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

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

Predominant fiber atrophy and fiber type disproportion in early ullrich disease

Medium-term functional benefits in children with cerebral palsy treated with botulinum toxin type A: 1-year follow-up using gross motor function measure

Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.

The congenital and limb-girdle muscular dystrophies: sharpening the focus, blurring the boundaries

Adult care for Duchenne muscular dystrophy in the UK.

Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum

Uridine supplementation antagonizes zalcitabine-induced microvesicular steatohepatitis in mice

Somatropin treatment of spinal muscular atrophy: a placebo-controlled, double-blind crossover pilot study

Evaluation of botulinum toxin A therapy in children with adductor spasm by gross motor function measure

Whole-body vibration training in children with Duchenne muscular dystrophy and spinal muscular atrophy