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Janbernd Kirschner

Showing results (71-80 of 173) with videos related to

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Neuromuscular Disorders : NMD|June 26, 2009
Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 alleleNatalia Garcia-Angarita, Janbernd Kirschner, Mandy Heiliger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 5, 2025
Economic evaluation of next-generation sequencing technologies in pediatric patient groups with confirmed or possible rare diseases: A systematic literature reviewMarianna De Stefano, Rudolf van Olden, Elnaz Arjmand, et al.
Journal of Neuromuscular Diseases|August 20, 2025
Physiotherapeutic management of patients with SMA: A questionnaire-based online survey among physiotherapists within the SMArtCARE networkSibylle Vogt, Cornelia Voigt-Müller, Heidi Rochau-Trumpp, et al.
American Journal of Medical Genetics. Part A|February 4, 2005
Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromesJanbernd Kirschner, Ingrid Hausser, Yaqun Zou, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 31, 2018
CD59 deficiency presenting as polyneuropathy and Moyamoya syndrome with endothelial abnormalities of small brain vesselsChristian Klemann, Janbernd Kirschner, Sandra Ammann, et al.
European Journal of Neurology|March 23, 2022
Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophyDavid C Schorling, Heike Kölbel, Andreas Hentschel, et al.
Journal of Inherited Metabolic Disease|January 26, 2018
A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturationSimon Julius Mayr, Jörn Oliver Sass, Julia Vry, et al.
Neuromuscular Disorders : NMD|March 30, 2021
Population pharmacokinetics-based recommendations for a single delayed or missed dose of nusinersenDrew MacCannell, Zdenek Berger, Lilly East, et al.
Orphanet Journal of Rare Diseases|January 23, 2019
SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophyAstrid Pechmann, Kirsten König, Günther Bernert, et al.
Journal of Neuromuscular Diseases|March 13, 2023
The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European ExperienceAnnemieke Aartsma-Rus, Liesbeth De Waele, Saskia Houwen-Opstal, et al.
Pageof 18

Showing results (71-80 of 173) with videos related to

Sort By:
Pageof 18
Neuromuscular Disorders : NMD|June 26, 2009
Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 alleleNatalia Garcia-Angarita, Janbernd Kirschner, Mandy Heiliger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 5, 2025
Economic evaluation of next-generation sequencing technologies in pediatric patient groups with confirmed or possible rare diseases: A systematic literature reviewMarianna De Stefano, Rudolf van Olden, Elnaz Arjmand, et al.
Journal of Neuromuscular Diseases|August 20, 2025
Physiotherapeutic management of patients with SMA: A questionnaire-based online survey among physiotherapists within the SMArtCARE networkSibylle Vogt, Cornelia Voigt-Müller, Heidi Rochau-Trumpp, et al.
American Journal of Medical Genetics. Part A|February 4, 2005
Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromesJanbernd Kirschner, Ingrid Hausser, Yaqun Zou, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 31, 2018
CD59 deficiency presenting as polyneuropathy and Moyamoya syndrome with endothelial abnormalities of small brain vesselsChristian Klemann, Janbernd Kirschner, Sandra Ammann, et al.
European Journal of Neurology|March 23, 2022
Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophyDavid C Schorling, Heike Kölbel, Andreas Hentschel, et al.
Journal of Inherited Metabolic Disease|January 26, 2018
A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturationSimon Julius Mayr, Jörn Oliver Sass, Julia Vry, et al.
Neuromuscular Disorders : NMD|March 30, 2021
Population pharmacokinetics-based recommendations for a single delayed or missed dose of nusinersenDrew MacCannell, Zdenek Berger, Lilly East, et al.
Orphanet Journal of Rare Diseases|January 23, 2019
SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophyAstrid Pechmann, Kirsten König, Günther Bernert, et al.
Journal of Neuromuscular Diseases|March 13, 2023
The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European ExperienceAnnemieke Aartsma-Rus, Liesbeth De Waele, Saskia Houwen-Opstal, et al.
Pageof 18