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Frank Baas

Showing results (211-220 of 231) with videos related to

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Journal of Neuromuscular Diseases|April 9, 2019
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association StudyFeifei Tao, Gary W Beecham, Adriana P Rebelo, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 4, 2020
A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the NetherlandsJonas M den Heijer, Valerie C Cullen, Marialuisa Quadri, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndromeAnna C Thomas, Hywel Williams, Núria Setó-Salvia, et al.
Orphanet Journal of Rare Diseases|February 15, 2014
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlationsVeerle Rc Eggens, Peter G Barth, Jikke-Mien F Niermeijer, et al.
Brain : a Journal of Neurology|May 14, 2024
PMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cellsRobert Prior, Alessio Silva, Tim Vangansewinkel, et al.
Cell|April 29, 2014
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegenerationAshleigh E Schaffer, Veerle R C Eggens, Ahmet Okay Caglayan, et al.
Nature Genetics|June 27, 2017
Neuroblastoma is composed of two super-enhancer-associated differentiation statesTim van Groningen, Jan Koster, Linda J Valentijn, et al.
Blood|September 9, 2020
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiencyFrancesco Saettini, Cecilia Poli, Jaime Vengoechea, et al.
Neurobiology of Aging|July 24, 2018
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase functionMartina de Majo, Simon D Topp, Bradley N Smith, et al.
Neurology|January 23, 2015
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophyMariacristina Scoto, Alexander M Rossor, Matthew B Harms, et al.
Pageof 24

Showing results (211-220 of 231) with videos related to

Sort By:
Pageof 24
Journal of Neuromuscular Diseases|April 9, 2019
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association StudyFeifei Tao, Gary W Beecham, Adriana P Rebelo, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 4, 2020
A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the NetherlandsJonas M den Heijer, Valerie C Cullen, Marialuisa Quadri, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndromeAnna C Thomas, Hywel Williams, Núria Setó-Salvia, et al.
Orphanet Journal of Rare Diseases|February 15, 2014
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlationsVeerle Rc Eggens, Peter G Barth, Jikke-Mien F Niermeijer, et al.
Brain : a Journal of Neurology|May 14, 2024
PMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cellsRobert Prior, Alessio Silva, Tim Vangansewinkel, et al.
Cell|April 29, 2014
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegenerationAshleigh E Schaffer, Veerle R C Eggens, Ahmet Okay Caglayan, et al.
Nature Genetics|June 27, 2017
Neuroblastoma is composed of two super-enhancer-associated differentiation statesTim van Groningen, Jan Koster, Linda J Valentijn, et al.
Blood|September 9, 2020
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiencyFrancesco Saettini, Cecilia Poli, Jaime Vengoechea, et al.
Neurobiology of Aging|July 24, 2018
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase functionMartina de Majo, Simon D Topp, Bradley N Smith, et al.
Neurology|January 23, 2015
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophyMariacristina Scoto, Alexander M Rossor, Matthew B Harms, et al.
Pageof 24