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Peter Bauer

Showing results (521-530 of 585) with videos related to

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Brain : a Journal of Neurology|November 11, 2017
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trialLudger Schöls, Tim W Rattay, Peter Martus, et al.
Brain : a Journal of Neurology|April 1, 2025
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanismHolger Hengel, Shabab B Hannan, Selina Reich, et al.
Brain : a Journal of Neurology|November 2, 2013
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndromeMichael Krieger, Andreas Roos, Claudia Stendel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 12, 2024
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia GenesMirja Thomsen, Katrin Marth, Sebastian Loens, et al.
Human Mutation|May 25, 2012
PRRT2 mutations are the major cause of benign familial infantile seizuresJulian Schubert, Roberta Paravidino, Felicitas Becker, et al.
Frontiers in Neurology|September 3, 2021
LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic CohortTatiana Usnich, Eva-Juliane Vollstedt, Nathalie Schell, et al.
The Lancet. Neurology|September 18, 2015
Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort studyHeike Jacobi, Sophie Tezenas du Montcel, Peter Bauer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2021
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic featuresDiane D Shao, Rachel Straussberg, Hind Ahmed, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 19, 2019
Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar AtaxiaAlhassane Diallo, Heike Jacobi, Arron Cook, et al.
Brain : a Journal of Neurology|March 25, 2024
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticityReza Maroofian, Payam Sarraf, Thomas J O'Brien, et al.
Pageof 59

Showing results (521-530 of 585) with videos related to

Sort By:
Pageof 59
Brain : a Journal of Neurology|November 11, 2017
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trialLudger Schöls, Tim W Rattay, Peter Martus, et al.
Brain : a Journal of Neurology|April 1, 2025
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanismHolger Hengel, Shabab B Hannan, Selina Reich, et al.
Brain : a Journal of Neurology|November 2, 2013
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndromeMichael Krieger, Andreas Roos, Claudia Stendel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 12, 2024
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia GenesMirja Thomsen, Katrin Marth, Sebastian Loens, et al.
Human Mutation|May 25, 2012
PRRT2 mutations are the major cause of benign familial infantile seizuresJulian Schubert, Roberta Paravidino, Felicitas Becker, et al.
Frontiers in Neurology|September 3, 2021
LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic CohortTatiana Usnich, Eva-Juliane Vollstedt, Nathalie Schell, et al.
The Lancet. Neurology|September 18, 2015
Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort studyHeike Jacobi, Sophie Tezenas du Montcel, Peter Bauer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2021
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic featuresDiane D Shao, Rachel Straussberg, Hind Ahmed, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 19, 2019
Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar AtaxiaAlhassane Diallo, Heike Jacobi, Arron Cook, et al.
Brain : a Journal of Neurology|March 25, 2024
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticityReza Maroofian, Payam Sarraf, Thomas J O'Brien, et al.
Pageof 59