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Kenneth H Fischbeck

Showing results (131-140 of 139) with videos related to

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Neurobiology of Disease|May 21, 2024
AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegiaSalimata Diarra, Saikat Ghosh, Lassana Cissé, et al.
JAMA Neurology|March 10, 2015
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic ParaplegiaCarlo Rinaldi, Thomas Schmidt, Alan J Situ, et al.
Brain Communications|December 15, 2021
Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathyLaura C Bott, Mitra Forouhan, Maria Lieto, et al.
Eneurologicalsci|February 13, 2018
Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?Modibo Sangare, Ilo Dicko, Cheick Oumar Guinto, et al.
Neuromuscular Disorders : NMD|October 14, 2014
Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophiesKatherine G Meilleur, Minal S Jain, Linda S Hynan, et al.
Human Mutation|July 17, 2013
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12Guida Landouré, Peng-Peng Zhu, Charles M Lourenço, et al.
Annals of Neurology|February 12, 2014
Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan AfricaModibo Sangaré, Brant Hendrickson, Hammadoun Ali Sango, et al.
American Journal of Human Genetics|April 16, 2019
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain MalformationLong Guo, Débora Romeo Bertola, Asako Takanohashi, et al.
Science (New York, N.Y.)|June 21, 2014
Research capacity. Enabling the genomic revolution in Africa, Charles Rotimi, Akin Abayomi, et al.
Pageof 14

Showing results (131-140 of 139) with videos related to

Sort By:
Pageof 14
You have reached the last page of results.This site can display upto 139 results.
Neurobiology of Disease|May 21, 2024
AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegiaSalimata Diarra, Saikat Ghosh, Lassana Cissé, et al.
JAMA Neurology|March 10, 2015
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic ParaplegiaCarlo Rinaldi, Thomas Schmidt, Alan J Situ, et al.
Brain Communications|December 15, 2021
Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathyLaura C Bott, Mitra Forouhan, Maria Lieto, et al.
Eneurologicalsci|February 13, 2018
Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?Modibo Sangare, Ilo Dicko, Cheick Oumar Guinto, et al.
Neuromuscular Disorders : NMD|October 14, 2014
Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophiesKatherine G Meilleur, Minal S Jain, Linda S Hynan, et al.
Human Mutation|July 17, 2013
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12Guida Landouré, Peng-Peng Zhu, Charles M Lourenço, et al.
Annals of Neurology|February 12, 2014
Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan AfricaModibo Sangaré, Brant Hendrickson, Hammadoun Ali Sango, et al.
American Journal of Human Genetics|April 16, 2019
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain MalformationLong Guo, Débora Romeo Bertola, Asako Takanohashi, et al.
Science (New York, N.Y.)|June 21, 2014
Research capacity. Enabling the genomic revolution in Africa, Charles Rotimi, Akin Abayomi, et al.
Pageof 14