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Janel O Johnson

Showing results (11-20 of 27) with videos related to

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Archives of Neurology|May 11, 2011
SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxiaCecilia Marelli, Joyce van de Leemput, Janel O Johnson, et al.
Archives of Neurology|January 12, 2011
Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP geneAdriano Chiò, Giuseppe Borghero, Maura Pugliatti, et al.
JAMA Neurology|May 5, 2015
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended FamilyKristen Zukosky, Katherine Meilleur, Bryan J Traynor, 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.
The Journal of Clinical Investigation|February 18, 2020
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathyJeremy M Sullivan, William W Motley, Janel O Johnson, et al.
Neurobiology of Aging|July 16, 2015
HFE p.H63D polymorphism does not influence ALS phenotype and survivalAdriano Chiò, Gabriele Mora, Mario Sabatelli, 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.
Neurobiology of Aging|March 2, 2015
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patientsAdriano Chiò, Gabriele Mora, Mario Sabatelli, 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.
Neurobiology of Aging|January 7, 2016
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansionAdriano Chiò, Gabriele Mora, Mario Sabatelli, et al.
Pageof 3

Showing results (11-20 of 27) with videos related to

Sort By:
Pageof 3
Archives of Neurology|May 11, 2011
SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxiaCecilia Marelli, Joyce van de Leemput, Janel O Johnson, et al.
Archives of Neurology|January 12, 2011
Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP geneAdriano Chiò, Giuseppe Borghero, Maura Pugliatti, et al.
JAMA Neurology|May 5, 2015
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended FamilyKristen Zukosky, Katherine Meilleur, Bryan J Traynor, 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.
The Journal of Clinical Investigation|February 18, 2020
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathyJeremy M Sullivan, William W Motley, Janel O Johnson, et al.
Neurobiology of Aging|July 16, 2015
HFE p.H63D polymorphism does not influence ALS phenotype and survivalAdriano Chiò, Gabriele Mora, Mario Sabatelli, 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.
Neurobiology of Aging|March 2, 2015
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patientsAdriano Chiò, Gabriele Mora, Mario Sabatelli, 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.
Neurobiology of Aging|January 7, 2016
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansionAdriano Chiò, Gabriele Mora, Mario Sabatelli, et al.
Pageof 3