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Journal of the Neurological Sciences
|
September 17, 2013
Parkinsonism syndrome in heterozygotes for Niemann-Pick C1
Hans H Kluenemann, John G Nutt, Marie Y Davis, et al.
Muscle & Nerve
|
July 30, 2013
Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance
Randal C Richardson, Jack C Tarleton, Thomas D Bird, et al.
Neuromuscular Disorders : NMD
|
July 1, 2020
Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants
Maxwell T Ma, Dong-Hui Chen, Wendy H Raskind, et al.
Journal of the Neurological Sciences
|
October 5, 2013
Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival
Marie Y Davis, C Dirk Keene, Phillip D Swanson, et al.
Human Heredity
|
January 12, 2007
Accounting for linkage disequilibrium among markers in linkage analysis: impact of haplotype frequency estimation and molecular haplotypes for a gene in a candidate region for Alzheimer's disease
Weiva Sieh, Chang-En Yu, Thomas D Bird, et al.
Journal of Alzheimer'S Disease : JAD
|
September 13, 2005
Diminished taxol/GTP-stimulated tubulin polymerization in diseased region of brain from patients with late-onset or inherited Alzheimer's disease or frontotemporal dementia with parkinsonism linked to chromosome-17 but not individuals with mild cognitive impairment
Angela M Boutté, M Diana Neely, Thomas D Bird, et al.
Annals of Neurology
|
August 5, 2004
Functional implications of a novel EA2 mutation in the P/Q-type calcium channel
Sian D Spacey, Michael E Hildebrand, Luke A Materek, et al.
Journal of Neurosurgery
|
March 3, 2005
Characterization of genetically defined types of Charcot-Marie-Tooth neuropathies by using magnetic resonance neurography
Dilantha B Ellegala, Stephen J Monteith, David Haynor, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 18, 2018
Trends over 42 years in the Adult Medical Genetics Clinic at the University of Washington
Elizabeth A Gay, Peter H Byers, Robin L Bennett, et al.
Neurology. Genetics
|
May 27, 2022
Progress in Amyotrophic Lateral Sclerosis Gene Discovery: Reflecting on Classic Approaches and Leveraging Emerging Technologies
Samuel N Smukowski, Heather Maioli, Caitlin S Latimer, et al.
Page
of 19
Search research articles
Search
Showing results (31-40 of 190) with videos related to
Sort By:
Page
of 19
Journal of the Neurological Sciences
|
September 17, 2013
Parkinsonism syndrome in heterozygotes for Niemann-Pick C1
Hans H Kluenemann, John G Nutt, Marie Y Davis, et al.
Muscle & Nerve
|
July 30, 2013
Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance
Randal C Richardson, Jack C Tarleton, Thomas D Bird, et al.
Neuromuscular Disorders : NMD
|
July 1, 2020
Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants
Maxwell T Ma, Dong-Hui Chen, Wendy H Raskind, et al.
Journal of the Neurological Sciences
|
October 5, 2013
Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival
Marie Y Davis, C Dirk Keene, Phillip D Swanson, et al.
Human Heredity
|
January 12, 2007
Accounting for linkage disequilibrium among markers in linkage analysis: impact of haplotype frequency estimation and molecular haplotypes for a gene in a candidate region for Alzheimer's disease
Weiva Sieh, Chang-En Yu, Thomas D Bird, et al.
Journal of Alzheimer'S Disease : JAD
|
September 13, 2005
Diminished taxol/GTP-stimulated tubulin polymerization in diseased region of brain from patients with late-onset or inherited Alzheimer's disease or frontotemporal dementia with parkinsonism linked to chromosome-17 but not individuals with mild cognitive impairment
Angela M Boutté, M Diana Neely, Thomas D Bird, et al.
Annals of Neurology
|
August 5, 2004
Functional implications of a novel EA2 mutation in the P/Q-type calcium channel
Sian D Spacey, Michael E Hildebrand, Luke A Materek, et al.
Journal of Neurosurgery
|
March 3, 2005
Characterization of genetically defined types of Charcot-Marie-Tooth neuropathies by using magnetic resonance neurography
Dilantha B Ellegala, Stephen J Monteith, David Haynor, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 18, 2018
Trends over 42 years in the Adult Medical Genetics Clinic at the University of Washington
Elizabeth A Gay, Peter H Byers, Robin L Bennett, et al.
Neurology. Genetics
|
May 27, 2022
Progress in Amyotrophic Lateral Sclerosis Gene Discovery: Reflecting on Classic Approaches and Leveraging Emerging Technologies
Samuel N Smukowski, Heather Maioli, Caitlin S Latimer, et al.
Page
of 19