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Garth Nicholson

Showing results (31-40 of 67) with videos related to

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Stem Cell Research|August 25, 2019
Generation and characterization of a human induced pluripotent stem cell line UOWi005-A from dermal fibroblasts derived from a CCNF<sup>S621G</sup> familial amyotrophic lateral sclerosis patient using mRNA reprogrammingMonique Bax, Rachelle Balez, Sonia Sanz Muñoz, et al.
Zebrafish|September 16, 2016
A Tol2 Gateway-Compatible Toolbox for the Study of the Nervous System and Neurodegenerative DiseaseEmily K Don, Isabel Formella, Andrew P Badrock, et al.
Human Mutation|October 20, 2011
A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)Heather M McLaughlin, Reiko Sakaguchi, William Giblin, et al.
Human Mutation|August 30, 2012
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivoAimée Vester, Gisselle Velez-Ruiz, Heather M McLaughlin, et al.
Journal of the Peripheral Nervous System : JPNS|June 11, 2024
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicingBianca R Grosz, Jevin M Parmar, Melina Ellis, et al.
Nature Genetics|February 26, 2005
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth diseaseStephan Züchner, Maher Noureddine, Marina Kennerson, et al.
Cells|September 5, 2020
A Simple Differentiation Protocol for Generation of Induced Pluripotent Stem Cell-Derived Basal Forebrain-Like Cholinergic Neurons for Alzheimer's Disease and Frontotemporal Dementia Disease ModelingSonia Sanz Muñoz, Martin Engel, Rachelle Balez, et al.
Human Mutation|July 23, 2003
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth DiseaseMichael Hunter, Rafaëlle Bernard, Elizabeth Freitas, et al.
Brain : a Journal of Neurology|June 28, 2011
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4Garth Nicholson, Guy M Lenk, Stephen W Reddel, et al.
Molecular Neurobiology|May 9, 2024
C9orf72-Associated Dipeptide Repeat Expansions Perturb ER-Golgi Vesicular Trafficking, Inducing Golgi Fragmentation and ER Stress, in ALS/FTDJessica Sultana, Audrey M G Ragagnin, Sonam Parakh, et al.
Pageof 7

Showing results (31-40 of 67) with videos related to

Sort By:
Pageof 7
Stem Cell Research|August 25, 2019
Generation and characterization of a human induced pluripotent stem cell line UOWi005-A from dermal fibroblasts derived from a CCNF<sup>S621G</sup> familial amyotrophic lateral sclerosis patient using mRNA reprogrammingMonique Bax, Rachelle Balez, Sonia Sanz Muñoz, et al.
Zebrafish|September 16, 2016
A Tol2 Gateway-Compatible Toolbox for the Study of the Nervous System and Neurodegenerative DiseaseEmily K Don, Isabel Formella, Andrew P Badrock, et al.
Human Mutation|October 20, 2011
A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)Heather M McLaughlin, Reiko Sakaguchi, William Giblin, et al.
Human Mutation|August 30, 2012
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivoAimée Vester, Gisselle Velez-Ruiz, Heather M McLaughlin, et al.
Journal of the Peripheral Nervous System : JPNS|June 11, 2024
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicingBianca R Grosz, Jevin M Parmar, Melina Ellis, et al.
Nature Genetics|February 26, 2005
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth diseaseStephan Züchner, Maher Noureddine, Marina Kennerson, et al.
Cells|September 5, 2020
A Simple Differentiation Protocol for Generation of Induced Pluripotent Stem Cell-Derived Basal Forebrain-Like Cholinergic Neurons for Alzheimer's Disease and Frontotemporal Dementia Disease ModelingSonia Sanz Muñoz, Martin Engel, Rachelle Balez, et al.
Human Mutation|July 23, 2003
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth DiseaseMichael Hunter, Rafaëlle Bernard, Elizabeth Freitas, et al.
Brain : a Journal of Neurology|June 28, 2011
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4Garth Nicholson, Guy M Lenk, Stephen W Reddel, et al.
Molecular Neurobiology|May 9, 2024
C9orf72-Associated Dipeptide Repeat Expansions Perturb ER-Golgi Vesicular Trafficking, Inducing Golgi Fragmentation and ER Stress, in ALS/FTDJessica Sultana, Audrey M G Ragagnin, Sonam Parakh, et al.
Pageof 7