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G Sweeney

Showing results (201-210 of 220) with videos related to

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Cell Reports|June 11, 2013
NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological diseaseRobert D S Pitceathly, Shamima Rahman, Yehani Wedatilake, et al.
Neurology|July 11, 2014
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathyYo-Tsen Liu, Matilde Laurá, Joshua Hersheson, et al.
Human Molecular Genetics|July 23, 2003
Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) geneMing-Jen Lee, Dennis A Stephenson, Michael J Groves, et al.
Human Mutation|March 13, 2015
Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 WorkshopFrancois H van der Westhuizen, Phumla Z Sinxadi, Collet Dandara, et al.
Journal of Medical Genetics|July 10, 2009
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testingR W Labrum, S Rajakulendran, T D Graves, et al.
Frontiers in Cellular Neuroscience|December 12, 2018
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17Suran Nethisinghe, Wei N Lim, Heather Ging, et al.
Human Genetics|November 2, 2019
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pairAlejandro Horga, Catherine E Woodward, Alberto Mills, et al.
American Journal of Human Genetics|April 5, 2016
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal NeuropathyAdriana P Rebelo, Alexander J Abrams, Ellen Cottenie, et al.
Acta Neuropathologica|February 27, 2015
The C9orf72 repeat expansion itself is methylated in ALS and FTLD patientsZhengrui Xi, Ming Zhang, Amalia C Bruni, et al.
Lancet (London, England)|April 2, 2018
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control studyRoope Männikkö, Leonie Wong, David J Tester, et al.
Pageof 22

Showing results (201-210 of 220) with videos related to

Sort By:
Pageof 22
Cell Reports|June 11, 2013
NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological diseaseRobert D S Pitceathly, Shamima Rahman, Yehani Wedatilake, et al.
Neurology|July 11, 2014
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathyYo-Tsen Liu, Matilde Laurá, Joshua Hersheson, et al.
Human Molecular Genetics|July 23, 2003
Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) geneMing-Jen Lee, Dennis A Stephenson, Michael J Groves, et al.
Human Mutation|March 13, 2015
Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 WorkshopFrancois H van der Westhuizen, Phumla Z Sinxadi, Collet Dandara, et al.
Journal of Medical Genetics|July 10, 2009
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testingR W Labrum, S Rajakulendran, T D Graves, et al.
Frontiers in Cellular Neuroscience|December 12, 2018
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17Suran Nethisinghe, Wei N Lim, Heather Ging, et al.
Human Genetics|November 2, 2019
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pairAlejandro Horga, Catherine E Woodward, Alberto Mills, et al.
American Journal of Human Genetics|April 5, 2016
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal NeuropathyAdriana P Rebelo, Alexander J Abrams, Ellen Cottenie, et al.
Acta Neuropathologica|February 27, 2015
The C9orf72 repeat expansion itself is methylated in ALS and FTLD patientsZhengrui Xi, Ming Zhang, Amalia C Bruni, et al.
Lancet (London, England)|April 2, 2018
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control studyRoope Männikkö, Leonie Wong, David J Tester, et al.
Pageof 22