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List of works by Janbernd Kirschner

A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn

scientific article

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

scientific article

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

scientific article published on 6 July 2017

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

scientific article published on 31 October 2014

A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation

scientific article published on 24 January 2018

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

scientific article

Adductor spasticity in children with cerebral palsy and treatment with botulinum toxin type A: the parents' view of functional outcome

scholarly article by Florian Heinen et al published November 1999 in European Journal of Neurology

Adult care for Duchenne muscular dystrophy in the UK.

scientific article

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

scientific article

Anterior Spinal Artery Syndrome in a 13-Year-Old Boy 8 Days After Taekwondo-Fight: Vascular Obliteration Due to Vessel Lesion or Thrombophilia?

scientific article published on 20 April 2011

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

scientific article

Botulinum toxin A in children with cerebral palsy: evaluation of therapy using the Pediatric Evaluation of Disability Inventory (PEDI)

scholarly article by Janbernd Kirschner et al published 29 July 2015 in Journal of Pediatric Neurology

Botulinum toxin treatment in cerebral palsy: evidence for a new treatment option.

scientific article

CD59 deficiency presenting as polyneuropathy and Moyamoya syndrome with endothelial abnormalities of small brain vessels

scientific article published on 13 April 2018

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

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

article

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

scientific article

Clinical impact of antibody formation to botulinum toxin A in children

scientific article

Congenital Muscular Dystrophies and Myopathies: An Overview and Update

Congenital muscular dystrophies

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

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

scientific article published on 13 September 2019

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

scientific article published on 24 June 2019

Decompressive craniectomy after severe traumatic brain injury in children: complications and outcome

scientific article published on 24 October 2014

Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.

scientific article

Diagnosis and New Treatment Avenues in Spinal Muscular Atrophy

scientific article published in June 2017

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

scientific article

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

Differential Analysis of Bone Density in Children and Adolescents with Neuromuscular Disorders and Cerebral Palsy.

scientific article

Drug treatment of Duchenne muscular dystrophy: available evidence and perspectives

scientific article

Duchenne muscular dystrophy and caregiver burden: a systematic review

article

Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.

scientific article published on 21 July 2017

Elevated satellite cell number in Duchenne muscular dystrophy

scientific article published on 15 May 2010

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

scientific article

Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany.

scientific article published on 16 April 2018

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

scientific article published on 01 April 2000

Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature

scientific article

Freiburg neuropathology case conference: a ring-enhancing brain lesion in an adolescent

scientific article published in August 2009

Freiburg neuropathology case conference: an intramedullary mass lesion in a child.

scientific article

Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational

scientific article

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

scientific article published on 01 August 2019

Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study.

scientific article published on 10 October 2018

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

scientific article

High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency

scientific article

How reference networks develop, implement, and monitor guidelines.

scientific article published on 22 November 2012

Infections and vaccinations preceding childhood Guillain-Barré syndrome: a prospective study

scientific article published on 12 May 2006

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

scientific article published on 01 July 2005

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

scientific article

Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus

article

Letter to the editor: In reply to Sansone et al

scientific article published on 29 March 2018

Long-Term Follow-Up on Health-Related Quality of Life After Mechanical Circulatory Support in Children

scientific article

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

scientific article

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

Measuring muscle strength in clinical trials – Authors' reply

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

Methylphenidate enhances both intracortical inhibition and facilitation in healthy adults.

scientific article published in March 2003

Mitochondrial DNA mutation 14487T>C manifesting as Leber’s hereditary optic neuropathy

scientific article published on 03 November 2015

Mitochondrial fatty acid biosynthesis and muscle fibre plasticity in very long-chain acyl-CoA dehydrogenase-deficient mice

scientific article published on 13 December 2017

Mitochondrial tubulopathy in tenofovir disoproxil fumarate-treated rats

scientific article published in July 2009

Muscle hypertrophy of the lower leg caused by L5 radiculopathy

scientific article

Muscle-fiber transdifferentiation in an experimental model of respiratory chain myopathy

scientific article published on 29 October 2012

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

scientific journal article

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

scientific article

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

scientific article published on 21 December 2013

New Perspectives in the Management of Duchenne Muscular Dystrophy

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

scientific article published on 21 October 2016

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

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

scientific article published in November 2017

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

scientific article published in February 2018

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

scientific article

Oral uridine supplementation antagonizes the peripheral neuropathy and encephalopathy induced by antiretroviral nucleoside analogues

scientific article published in January 2010

Outcomes in Duchenne muscular dystrophy: nature, nurture, culture-or all three?

scientific article published on 6 June 2017

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

scientific article

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

scientific article published on 2 January 2013

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

scientific article published on 7 February 2017

Predominant fiber atrophy and fiber type disproportion in early ullrich disease

scientific article

Progressive Muskeldystrophien und FSHD

Prospective study on anti-ganglioside antibodies in childhood Guillain-Barré syndrome

scientific article

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

scientific article

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

scientific article published on 21 March 2019

Respiratory chain deficiency in nonmitochondrial disease

scientific article published on 27 April 2015

Respiratory chain deficiency precedes the disrupted calcium homeostasis in chronic doxorubicin cardiomyopathy

scientific article published on 10 September 2009

Restoration of Nusinersen Levels Following Treatment Interruption in People With Spinal Muscular Atrophy: Simulations Based on a Population Pharmacokinetic Model

scientific article published on 26 January 2022

Role of pyrimidine depletion in the mitochondrial cardiotoxicity of nucleoside analogue reverse transcriptase inhibitors

scientific article published on December 2010

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

scientific article published on 30 October 2013

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

Sarcoglycanopathies

scientific article published on January 2011

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

Single-center experience with intrathecal administration of Nusinersen in children with spinal muscular atrophy type 1.

scientific article published on 21 November 2017

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

scientific article published on 13 November 2013

Spinale Muskelatrophien

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype

scientific article published on 29 September 2015

Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies

article

The Congenital And Limb-girdle Muscular Dystrophies

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

scientific article published on 17 March 2015

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

scientific article published on 26 August 2013

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

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

scientific article published on February 2004

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

scientific article published on 26 August 2010

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

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

Uridine supplementation antagonizes zalcitabine-induced microvesicular steatohepatitis in mice

Uridine supplementation antagonizes zidovudine-induced mitochondrial myopathy and hyperlactatemia in mice

scientific article published in January 2008

Variable impairment of platelet functions in patients with severe, genetically linked immune deficiencies.

scientific article published on 14 December 2017

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

scientific article

Why do children with cerebral palsy discontinue therapy with botulinum toxin A?

scholarly article by Michaela Linder-Lucht et al published 16 March 2006 in Developmental Medicine and Child Neurology

Zidovudine induces visceral mitochondrial toxicity and intra-abdominal fat gain in a rodent model of lipodystrophy

scientific article published on 28 February 2014

[Innovative therapeutic approaches for hereditary neuromuscular diseases]

scientific article published on 01 October 2018

[Treatment evaluation in patients with 5q-associated spinal muscular atrophy : Real-world experience]

scientific article published on 01 April 2019

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

scientific article published in January 2005

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