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Gilbert Wunderlich

Showing results (41-50 of 54) with videos related to

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Neurology. Genetics|December 13, 2021
Transcript-Specific Loss-of-Function Variants in <i>VPS16</i> Are Enriched in Patients With DystoniaJoohyun Park, Annemarie Reilaender, Jan N Petry-Schmelzer, et al.
Journal of Neurology|June 6, 2020
Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literatureMaike F Dohrn, Michaela Auer-Grumbach, Ralf Baron, et al.
Journal of Human Genetics|June 6, 2019
Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystoniaHormos Salimi Dafsari, Rosanne Sprute, Gilbert Wunderlich, et al.
Journal of Human Genetics|August 8, 2019
Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystoniaHormos Salimi Dafsari, Rosanne Sprute, Gilbert Wunderlich, et al.
American Journal of Human Genetics|September 16, 2020
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi FragmentationNatalia Mendoza-Ferreira, Mert Karakaya, Nur Cengiz, et al.
Human Mutation|June 3, 2018
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophiesMert Karakaya, Markus Storbeck, Eike A Strathmann, et al.
Orphanet Journal of Rare Diseases|February 12, 2024
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseasesHolm Graessner, Carola Reinhard, Tobias Bäumer, et al.
The Lancet. Neurology|March 22, 2020
Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort studyTim Hagenacker, Claudia D Wurster, René Günther, et al.
Neurological Research and Practice|October 30, 2024
Iatrogenic botulism after intragastric botulinum neurotoxin injections - a major outbreakTsepo Goerttler, Martin B Dorner, Christina van der Linden, et al.
Brain : a Journal of Neurology|September 3, 2025
Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencingHannes Erdmann, Annalisa Schaub, Morghan C Lucas, et al.
Pageof 6

Showing results (41-50 of 54) with videos related to

Sort By:
Pageof 6
Neurology. Genetics|December 13, 2021
Transcript-Specific Loss-of-Function Variants in <i>VPS16</i> Are Enriched in Patients With DystoniaJoohyun Park, Annemarie Reilaender, Jan N Petry-Schmelzer, et al.
Journal of Neurology|June 6, 2020
Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literatureMaike F Dohrn, Michaela Auer-Grumbach, Ralf Baron, et al.
Journal of Human Genetics|June 6, 2019
Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystoniaHormos Salimi Dafsari, Rosanne Sprute, Gilbert Wunderlich, et al.
Journal of Human Genetics|August 8, 2019
Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystoniaHormos Salimi Dafsari, Rosanne Sprute, Gilbert Wunderlich, et al.
American Journal of Human Genetics|September 16, 2020
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi FragmentationNatalia Mendoza-Ferreira, Mert Karakaya, Nur Cengiz, et al.
Human Mutation|June 3, 2018
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophiesMert Karakaya, Markus Storbeck, Eike A Strathmann, et al.
Orphanet Journal of Rare Diseases|February 12, 2024
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseasesHolm Graessner, Carola Reinhard, Tobias Bäumer, et al.
The Lancet. Neurology|March 22, 2020
Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort studyTim Hagenacker, Claudia D Wurster, René Günther, et al.
Neurological Research and Practice|October 30, 2024
Iatrogenic botulism after intragastric botulinum neurotoxin injections - a major outbreakTsepo Goerttler, Martin B Dorner, Christina van der Linden, et al.
Brain : a Journal of Neurology|September 3, 2025
Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencingHannes Erdmann, Annalisa Schaub, Morghan C Lucas, et al.
Pageof 6