Janbernd Kirschner

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Publications in SciGraph latest 50 shown

  • 2021-09-10 Innovative Therapien in der Neuropädiatrie in PÄDIATRIE
  • 2020-11-26 Spinale Muskelatrophien in PÄDIATRIE
  • 2020-11-26 Progressive Muskeldystrophien und fazioskapulohumerale Muskeldystrophie in PÄDIATRIE
  • 2020-07-29 Experiences of caregivers of children with spinal muscular atrophy participating in the expanded access program for nusinersen: a longitudinal qualitative study in ORPHANET JOURNAL OF RARE DISEASES
  • 2020-06-05 Zur Gentherapie der Spinalen Muskelatrophie mit Onasemnogene Abeparvovec. Stellungnahme der Gesellschaft für Neuropädiatrie in MONATSSCHRIFT KINDERHEILKUNDE
  • 2020-05-11 Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101 in DER NERVENARZT
  • 2020-02-27 Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis in EUROPEAN JOURNAL OF EPIDEMIOLOGY
  • 2019-09-16 Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2019-06-24 De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany in ORPHANET JOURNAL OF RARE DISEASES
  • 2019-05-10 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 in ORPHANET JOURNAL OF RARE DISEASES
  • 2019-05-06 Neue Therapieoptionen und deren Implikationen für die Transition in NEUROTRANSMITTER
  • 2019-02-04 Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review in THE PATIENT - PATIENT-CENTERED OUTCOMES RESEARCH
  • 2019-01-21 SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy in ORPHANET JOURNAL OF RARE DISEASES
  • 2019-01-07 Therapieevaluation bei Patienten mit 5q-assoziierter spinaler Muskelatrophie in DER NERVENARZT
  • 2018-08-31 Innovative Therapieansätze bei hereditären neuromuskulären Erkrankungen in DER NERVENARZT
  • 2018-05-10 A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial in TRIALS
  • 2018-01-24 A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2017-06-20 A multi-source approach to determine SMA incidence and research ready population in JOURNAL OF NEUROLOGY
  • 2017-06-09 Von der isolierten Optikusatrophie zur Multisystemerkrankung in MONATSSCHRIFT KINDERHEILKUNDE
  • 2017-02-07 Predictors of Health-Related Quality of Life in boys with Duchenne muscular dystrophy from six European countries in JOURNAL OF NEUROLOGY
  • 2016-10-21 Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum in ORPHANET JOURNAL OF RARE DISEASES
  • 2015-11-25 Spinale Muskelatrophie in MONATSSCHRIFT KINDERHEILKUNDE
  • 2015-11-03 Mitochondrial DNA mutation 14487T>C manifesting as Leber’s hereditary optic neuropathy in JOURNAL OF NEUROLOGY
  • 2015-07-07 Spinale Muskelatrophien in PÄDIATRIE
  • 2014-12-24 Adult care for Duchenne muscular dystrophy in the UK in JOURNAL OF NEUROLOGY
  • 2014-09-30 Spinale Muskelatrophien in PÄDIATRIE
  • 2014-09-30 Progressive Muskeldystrophien und FSHD in PÄDIATRIE
  • 2013-12-21 Myopathy in Marinesco–Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology in ACTA NEUROPATHOLOGICA
  • 2013-10-23 The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases in ORPHANET JOURNAL OF RARE DISEASES
  • 2013-03-03 Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS in NATURE
  • 2012-10-29 Muscle-fiber transdifferentiation in an experimental model of respiratory chain myopathy in ARTHRITIS RESEARCH & THERAPY
  • 2012-02-05 Diagnose und Therapie der Muskeldystrophie Duchenne in MONATSSCHRIFT KINDERHEILKUNDE
  • 2011-10-06 Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations in JOURNAL OF NEUROLOGY
  • 2010-06-15 Freiburg Neuropathology Case Conference: an Intramedullary Mass Lesion in a Child in CLINICAL NEURORADIOLOGY
  • 2010-05-15 Elevated satellite cell number in Duchenne muscular dystrophy in CELL AND TISSUE RESEARCH
  • 2009-08-23 Freiburg Neuropathology Case Conference: a Ring-Enhancing Brain Lesion in an Adolescent in CLINICAL NEURORADIOLOGY
  • 2008-11-10 Uridine supplementation with Mitocnol attenuates mitochondrial cardiomyopathy induced by zidovudine and zalcitabine in JOURNAL OF THE INTERNATIONAL AIDS SOCIETY
  • 2008-11-10 Uridine supplementation with Mitocnol antagonizes antiretroviral nucleoside analogue-induced mitochondrial peripheral and cerebral neuropathy in vivo in JOURNAL OF THE INTERNATIONAL AIDS SOCIETY
  • 2006-05-12 Infections and vaccinations preceding childhood Guillain-Barré syndrome: a prospective study in EUROPEAN JOURNAL OF PEDIATRICS
  • 2001-04 Botulinum toxin treatment in cerebral palsy: evidence for a new treatment option in JOURNAL OF NEUROLOGY
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