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Human Mutation
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November 7, 2019
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders
Kathie J Ngo, Jessica E Rexach, Hane Lee, et al.
Nature Medicine
|
September 29, 2020
Neuronal defects in a human cellular model of 22q11.2 deletion syndrome
Themasap A Khan, Omer Revah, Aaron Gordon, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
April 2, 2013
TDP-43 frontotemporal lobar degeneration and autoimmune disease
Zachary A Miller, Katherine P Rankin, Neill R Graff-Radford, et al.
JAMA Neurology
|
February 27, 2023
Prevalence, Timing, and Network Localization of Emergent Visual Creativity in Frontotemporal Dementia
Adit Friedberg, Lorenzo Pasquini, Ryan Diggs, et al.
Cell
|
January 22, 2021
p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR)
Maya Maor-Nof, Zohar Shipony, Rodrigo Lopez-Gonzalez, et al.
Science (New York, N.Y.)
|
March 17, 2007
Strong association of de novo copy number mutations with autism
Jonathan Sebat, B Lakshmi, Dheeraj Malhotra, et al.
Nature Neuroscience
|
March 18, 2018
Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium
Stephan J Sanders, Benjamin M Neale, Hailiang Huang, et al.
Cell
|
January 22, 2022
Tau interactome maps synaptic and mitochondrial processes associated with neurodegeneration
Tara E Tracy, Jesus Madero-Pérez, Danielle L Swaney, et al.
Nature Genetics
|
August 18, 2022
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
Xueya Zhou, Pamela Feliciano, Chang Shu, et al.
Neuron
|
September 28, 2011
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
Mariely DeJesus-Hernandez, Ian R Mackenzie, Bradley F Boeve, et al.
Page
of 48
Search research articles
Search
Showing results (391-400 of 474) with videos related to
Sort By:
Page
of 48
Human Mutation
|
November 7, 2019
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders
Kathie J Ngo, Jessica E Rexach, Hane Lee, et al.
Nature Medicine
|
September 29, 2020
Neuronal defects in a human cellular model of 22q11.2 deletion syndrome
Themasap A Khan, Omer Revah, Aaron Gordon, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
April 2, 2013
TDP-43 frontotemporal lobar degeneration and autoimmune disease
Zachary A Miller, Katherine P Rankin, Neill R Graff-Radford, et al.
JAMA Neurology
|
February 27, 2023
Prevalence, Timing, and Network Localization of Emergent Visual Creativity in Frontotemporal Dementia
Adit Friedberg, Lorenzo Pasquini, Ryan Diggs, et al.
Cell
|
January 22, 2021
p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR)
Maya Maor-Nof, Zohar Shipony, Rodrigo Lopez-Gonzalez, et al.
Science (New York, N.Y.)
|
March 17, 2007
Strong association of de novo copy number mutations with autism
Jonathan Sebat, B Lakshmi, Dheeraj Malhotra, et al.
Nature Neuroscience
|
March 18, 2018
Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium
Stephan J Sanders, Benjamin M Neale, Hailiang Huang, et al.
Cell
|
January 22, 2022
Tau interactome maps synaptic and mitochondrial processes associated with neurodegeneration
Tara E Tracy, Jesus Madero-Pérez, Danielle L Swaney, et al.
Nature Genetics
|
August 18, 2022
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
Xueya Zhou, Pamela Feliciano, Chang Shu, et al.
Neuron
|
September 28, 2011
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
Mariely DeJesus-Hernandez, Ian R Mackenzie, Bradley F Boeve, et al.
Page
of 48