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Frank Baas

Showing results (161-170 of 231) with videos related to

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Parkinsonism & Related Disorders|September 18, 2012
Cervical dystonia and genetic common variation in the dopamine pathwayJustus L Groen, Javier Simón-Sánchez, Katja Ritz, et al.
Human Molecular Genetics|October 10, 2014
CACNA1B mutation is linked to unique myoclonus-dystonia syndromeJustus L Groen, Arturo Andrade, Katja Ritz, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 5, 2015
RELN rare variants in myoclonus-dystoniaJustus L Groen, Katja Ritz, Hamid Jalalzadeh, et al.
American Journal of Human Genetics|July 4, 2003
Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16qDeborah M Ruddy, Matthew J Parton, Ammar Al-Chalabi, et al.
European Journal of Neurology|January 18, 2021
Genetic biomarkers for intravenous immunoglobulin response in chronic inflammatory demyelinating polyradiculoneuropathyKrista Kuitwaard, Pieter A van Doorn, Thiziri Bengrine, et al.
Journal of the Peripheral Nervous System : JPNS|June 23, 2011
The phenotype of the Gly94fsX222 PMP22 insertionSara D J de Vries, Camiel Verhamme, Fred van Ruissen, et al.
Neuromuscular Disorders : NMD|December 20, 2022
Pathogenic variants in three families with distal muscle involvementMarian A J Weterman, Marieke Bronk, Aldo Jongejan, et al.
Human Molecular Genetics|October 21, 2011
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathyMarian A J Weterman, Vincenzo Sorrentino, Paul R Kasher, et al.
Plos One|October 31, 2015
Somatic Variation of T-Cell Receptor Genes Strongly Associate with HLA Class RestrictionPaul L Klarenbeek, Marieke E Doorenspleet, Rebecca E E Esveldt, et al.
Human Molecular Genetics|April 28, 2017
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndromeIliana A Chatzispyrou, Marielle Alders, Sergio Guerrero-Castillo, et al.
Pageof 24

Showing results (161-170 of 231) with videos related to

Sort By:
Pageof 24
Parkinsonism & Related Disorders|September 18, 2012
Cervical dystonia and genetic common variation in the dopamine pathwayJustus L Groen, Javier Simón-Sánchez, Katja Ritz, et al.
Human Molecular Genetics|October 10, 2014
CACNA1B mutation is linked to unique myoclonus-dystonia syndromeJustus L Groen, Arturo Andrade, Katja Ritz, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 5, 2015
RELN rare variants in myoclonus-dystoniaJustus L Groen, Katja Ritz, Hamid Jalalzadeh, et al.
American Journal of Human Genetics|July 4, 2003
Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16qDeborah M Ruddy, Matthew J Parton, Ammar Al-Chalabi, et al.
European Journal of Neurology|January 18, 2021
Genetic biomarkers for intravenous immunoglobulin response in chronic inflammatory demyelinating polyradiculoneuropathyKrista Kuitwaard, Pieter A van Doorn, Thiziri Bengrine, et al.
Journal of the Peripheral Nervous System : JPNS|June 23, 2011
The phenotype of the Gly94fsX222 PMP22 insertionSara D J de Vries, Camiel Verhamme, Fred van Ruissen, et al.
Neuromuscular Disorders : NMD|December 20, 2022
Pathogenic variants in three families with distal muscle involvementMarian A J Weterman, Marieke Bronk, Aldo Jongejan, et al.
Human Molecular Genetics|October 21, 2011
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathyMarian A J Weterman, Vincenzo Sorrentino, Paul R Kasher, et al.
Plos One|October 31, 2015
Somatic Variation of T-Cell Receptor Genes Strongly Associate with HLA Class RestrictionPaul L Klarenbeek, Marieke E Doorenspleet, Rebecca E E Esveldt, et al.
Human Molecular Genetics|April 28, 2017
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndromeIliana A Chatzispyrou, Marielle Alders, Sergio Guerrero-Castillo, et al.
Pageof 24