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American Journal of Human Genetics
|
June 4, 2016
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L
Dong-Hui Chen, Jennifer E Below, Akiko Shimamura, et al.
The EMBO Journal
|
August 16, 2012
Upregulated function of mitochondria-associated ER membranes in Alzheimer disease
Estela Area-Gomez, Maria Del Carmen Lara Castillo, Marc D Tambini, et al.
Genes, Brain, and Behavior
|
October 19, 2017
Variants regulating ZBTB4 are associated with age-at-onset of Alzheimer's disease
E E Blue, C-E Yu, T A Thornton, et al.
The American Journal of Pathology
|
October 17, 2009
Presenilins are enriched in endoplasmic reticulum membranes associated with mitochondria
Estela Area-Gomez, Ad J C de Groof, Istvan Boldogh, et al.
Neurology
|
May 5, 1998
Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia
Y Furukawa, A E Lang, J M Trugman, et al.
Annals of Neurology
|
August 1, 1996
Amyloid beta protein (Abeta) deposition in chromosome 14-linked Alzheimer's disease: predominance of Abeta42(43)
D M Mann, T Iwatsubo, N J Cairns, et al.
American Journal of Human Genetics
|
March 20, 2003
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia
Dong-Hui Chen, Zoran Brkanac, Christophe L M J Verlinde, et al.
Genetic Testing
|
October 6, 2006
Validity and utility of a LRRK2 G2019S mutation test for the diagnosis of Parkinson's disease
Denise M Kay, Tom D Bird, Cyrus P Zabetian, et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology
|
October 11, 2024
Hereditary spastic paraplegia with thin corpus callosum and SPG11 mutation: A neuropathological evaluation
Kathryn P Scherpelz, Rebecca A Yoda, Suman Jayadev, et al.
Nature Structural & Molecular Biology
|
March 5, 2025
Tau filaments with the Alzheimer fold in human MAPT mutants V337M and R406W
Chao Qi, Sofia Lövestam, Alexey G Murzin, et al.
Page
of 78
Search research articles
Search
Showing results (681-690 of 780) with videos related to
Sort By:
Page
of 78
American Journal of Human Genetics
|
June 4, 2016
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L
Dong-Hui Chen, Jennifer E Below, Akiko Shimamura, et al.
The EMBO Journal
|
August 16, 2012
Upregulated function of mitochondria-associated ER membranes in Alzheimer disease
Estela Area-Gomez, Maria Del Carmen Lara Castillo, Marc D Tambini, et al.
Genes, Brain, and Behavior
|
October 19, 2017
Variants regulating ZBTB4 are associated with age-at-onset of Alzheimer's disease
E E Blue, C-E Yu, T A Thornton, et al.
The American Journal of Pathology
|
October 17, 2009
Presenilins are enriched in endoplasmic reticulum membranes associated with mitochondria
Estela Area-Gomez, Ad J C de Groof, Istvan Boldogh, et al.
Neurology
|
May 5, 1998
Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia
Y Furukawa, A E Lang, J M Trugman, et al.
Annals of Neurology
|
August 1, 1996
Amyloid beta protein (Abeta) deposition in chromosome 14-linked Alzheimer's disease: predominance of Abeta42(43)
D M Mann, T Iwatsubo, N J Cairns, et al.
American Journal of Human Genetics
|
March 20, 2003
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia
Dong-Hui Chen, Zoran Brkanac, Christophe L M J Verlinde, et al.
Genetic Testing
|
October 6, 2006
Validity and utility of a LRRK2 G2019S mutation test for the diagnosis of Parkinson's disease
Denise M Kay, Tom D Bird, Cyrus P Zabetian, et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology
|
October 11, 2024
Hereditary spastic paraplegia with thin corpus callosum and SPG11 mutation: A neuropathological evaluation
Kathryn P Scherpelz, Rebecca A Yoda, Suman Jayadev, et al.
Nature Structural & Molecular Biology
|
March 5, 2025
Tau filaments with the Alzheimer fold in human MAPT mutants V337M and R406W
Chao Qi, Sofia Lövestam, Alexey G Murzin, et al.
Page
of 78