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Journal of the Neurological Sciences
|
July 6, 2015
Association of the Charcot-Marie-Tooth disease gene ARHGEF10 with paclitaxel induced peripheral neuropathy in NCCTG N08CA (Alliance)
Ganesh K Boora, Amit A Kulkarni, Rahul Kanwar, et al.
Human Mutation
|
August 30, 2012
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo
Aimée Vester, Gisselle Velez-Ruiz, Heather M McLaughlin, et al.
Neurology
|
February 3, 2022
De Novo <i>ATP1A1</i> Variants in an Early-Onset Complex Neurodevelopmental Syndrome
Maike F Dohrn, Adriana P Rebelo, Siddharth Srivastava, et al.
JIMD Reports
|
June 10, 2026
Heterozygous <i>OGDH</i> Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical Atrophy
Liedewei Van de Vondel, Gyu S Lee, Jonathan De Winter, et al.
Scientific Reports
|
February 5, 2021
Elevated preoptic brain activity in zebrafish glial glycine transporter mutants is linked to lethargy-like behaviors and delayed emergence from anesthesia
Michael J Venincasa, Owen Randlett, Sureni H Sumathipala, et al.
Plos One
|
December 11, 2012
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss
Oscar Diaz-Horta, Duygu Duman, Joseph Foster, et al.
Hybridoma (2005)
|
October 20, 2011
In vivo electroporation and non-protein based screening assays to identify antibodies against native protein conformations
Pirouz Daftarian, Raquibul Chowdhury, Philip Ames, et al.
Human Molecular Genetics
|
June 19, 2015
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease
Jennifer Hirst, James R Edgar, Typhaine Esteves, et al.
Nature Genetics
|
February 26, 2005
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
Stephan Züchner, Maher Noureddine, Marina Kennerson, et al.
Brain : a Journal of Neurology
|
June 28, 2014
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier
Tobias Bonifert, Kathrin N Karle, Felix Tonagel, et al.
Page
of 20
Search research articles
Search
Showing results (111-120 of 198) with videos related to
Sort By:
Page
of 20
Journal of the Neurological Sciences
|
July 6, 2015
Association of the Charcot-Marie-Tooth disease gene ARHGEF10 with paclitaxel induced peripheral neuropathy in NCCTG N08CA (Alliance)
Ganesh K Boora, Amit A Kulkarni, Rahul Kanwar, et al.
Human Mutation
|
August 30, 2012
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo
Aimée Vester, Gisselle Velez-Ruiz, Heather M McLaughlin, et al.
Neurology
|
February 3, 2022
De Novo <i>ATP1A1</i> Variants in an Early-Onset Complex Neurodevelopmental Syndrome
Maike F Dohrn, Adriana P Rebelo, Siddharth Srivastava, et al.
JIMD Reports
|
June 10, 2026
Heterozygous <i>OGDH</i> Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical Atrophy
Liedewei Van de Vondel, Gyu S Lee, Jonathan De Winter, et al.
Scientific Reports
|
February 5, 2021
Elevated preoptic brain activity in zebrafish glial glycine transporter mutants is linked to lethargy-like behaviors and delayed emergence from anesthesia
Michael J Venincasa, Owen Randlett, Sureni H Sumathipala, et al.
Plos One
|
December 11, 2012
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss
Oscar Diaz-Horta, Duygu Duman, Joseph Foster, et al.
Hybridoma (2005)
|
October 20, 2011
In vivo electroporation and non-protein based screening assays to identify antibodies against native protein conformations
Pirouz Daftarian, Raquibul Chowdhury, Philip Ames, et al.
Human Molecular Genetics
|
June 19, 2015
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease
Jennifer Hirst, James R Edgar, Typhaine Esteves, et al.
Nature Genetics
|
February 26, 2005
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
Stephan Züchner, Maher Noureddine, Marina Kennerson, et al.
Brain : a Journal of Neurology
|
June 28, 2014
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier
Tobias Bonifert, Kathrin N Karle, Felix Tonagel, et al.
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of 20