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NPJ Parkinson'S Disease
|
April 15, 2024
Resequencing the complete SNCA locus in Indian patients with Parkinson's disease
Asha Kishore, Marc Sturm, Kanchana Soman Pillai, et al.
Brain : a Journal of Neurology
|
March 24, 2017
A combinatorial approach to identify calpain cleavage sites in the Machado-Joseph disease protein ataxin-3
Jonasz J Weber, Matthias Golla, Giambattista Guaitoli, et al.
Neurogenetics
|
September 5, 2009
Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease
Anne S Soehn, Thomas Franck, Saskia Biskup, et al.
American Journal of Human Genetics
|
November 22, 2016
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A
Chanshuai Han, Reem Alkhater, Tawfiq Froukh, et al.
Brain : a Journal of Neurology
|
January 11, 2022
DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family
Fubo Cheng, Wenxu Zheng, Peter Antony Barbuti, et al.
Human Molecular Genetics
|
May 23, 2003
Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease
Frank P Marx, Carsten Holzmann, Karsten M Strauss, et al.
Human Molecular Genetics
|
April 30, 2016
Structural and molecular myelination deficits occur prior to neuronal loss in the YAC128 and BACHD models of Huntington disease
Roy Tang Yi Teo, Xin Hong, Libo Yu-Taeger, et al.
Human Molecular Genetics
|
September 26, 2013
Overexpression of synphilin-1 promotes clearance of soluble and misfolded alpha-synuclein without restoring the motor phenotype in aged A30P transgenic mice
Nicolas Casadei, Anne-Maria Pöhler, Cristina Tomás-Zapico, et al.
Molecular Neurodegeneration
|
July 4, 2023
Overexpression of human alpha-Synuclein leads to dysregulated microbiome/metabolites with ageing in a rat model of Parkinson disease
Yogesh Singh, Christoph Trautwein, Joan Romani, et al.
BMC Medical Genetics
|
August 17, 2018
First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications
Markus W Löffler, Julia Steinhilber, Franz J Hilke, et al.
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of 32
Search research articles
Search
Showing results (221-230 of 313) with videos related to
Sort By:
Page
of 32
NPJ Parkinson'S Disease
|
April 15, 2024
Resequencing the complete SNCA locus in Indian patients with Parkinson's disease
Asha Kishore, Marc Sturm, Kanchana Soman Pillai, et al.
Brain : a Journal of Neurology
|
March 24, 2017
A combinatorial approach to identify calpain cleavage sites in the Machado-Joseph disease protein ataxin-3
Jonasz J Weber, Matthias Golla, Giambattista Guaitoli, et al.
Neurogenetics
|
September 5, 2009
Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease
Anne S Soehn, Thomas Franck, Saskia Biskup, et al.
American Journal of Human Genetics
|
November 22, 2016
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A
Chanshuai Han, Reem Alkhater, Tawfiq Froukh, et al.
Brain : a Journal of Neurology
|
January 11, 2022
DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family
Fubo Cheng, Wenxu Zheng, Peter Antony Barbuti, et al.
Human Molecular Genetics
|
May 23, 2003
Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease
Frank P Marx, Carsten Holzmann, Karsten M Strauss, et al.
Human Molecular Genetics
|
April 30, 2016
Structural and molecular myelination deficits occur prior to neuronal loss in the YAC128 and BACHD models of Huntington disease
Roy Tang Yi Teo, Xin Hong, Libo Yu-Taeger, et al.
Human Molecular Genetics
|
September 26, 2013
Overexpression of synphilin-1 promotes clearance of soluble and misfolded alpha-synuclein without restoring the motor phenotype in aged A30P transgenic mice
Nicolas Casadei, Anne-Maria Pöhler, Cristina Tomás-Zapico, et al.
Molecular Neurodegeneration
|
July 4, 2023
Overexpression of human alpha-Synuclein leads to dysregulated microbiome/metabolites with ageing in a rat model of Parkinson disease
Yogesh Singh, Christoph Trautwein, Joan Romani, et al.
BMC Medical Genetics
|
August 17, 2018
First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extremely rare diseases with probable further implications
Markus W Löffler, Julia Steinhilber, Franz J Hilke, et al.
Page
of 32