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Jose Bras

Showing results (41-50 of 118) with videos related to

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Neurobiology of Aging|December 11, 2020
Genetic variants in glutamate-, Aβ-, and tau-related pathways determine polygenic risk for Alzheimer's diseaseTed Lawingco, Sultan Chaudhury, Keeley J Brookes, et al.
Human Molecular Genetics|September 13, 2015
A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's diseaseCelia Kun-Rodrigues, Christos Ganos, Rita Guerreiro, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|April 22, 2017
<i>TBC1D24</i> Mutations in a Sibship with Multifocal PolymyoclonusAdeline Ngoh, Jose Bras, Rita Guerreiro, et al.
Neurobiology of Aging|December 25, 2019
Two pathologically confirmed cases of novel mutations in the MAPT gene causing frontotemporal dementiaRachelle Shafei, Ione O C Woollacott, Catherine J Mummery, et al.
Human Genomics|July 29, 2021
A comprehensive analysis of copy number variation in a Turkish dementia cohortNadia Dehghani, Gamze Guven, Celia Kun-Rodrigues, et al.
Neurobiology of Aging|August 16, 2016
Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutationJose Bras, Ruth Djaldetti, Ana Margarida Alves, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 4, 2013
Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous familyMaja Kojovic, Una-Marie Sheerin, Ignacio Rubio-Agusti, et al.
Neurobiology of Aging|July 17, 2013
Insights into TREM2 biology by network analysis of human brain gene expression dataPaola Forabosco, Adaikalavan Ramasamy, Daniah Trabzuni, et al.
Journal of Alzheimer'S Disease : JAD|November 27, 2018
Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal DementiaGamze Guven, Başar Bilgic, Zeynep Tufekcioglu, et al.
Journal of Veterinary Internal Medicine|August 14, 2020
A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type IKiterie M E Faller, Alison E Ridyard, Rodrigo Gutierrez-Quintana, et al.
Pageof 12

Showing results (41-50 of 118) with videos related to

Sort By:
Pageof 12
Neurobiology of Aging|December 11, 2020
Genetic variants in glutamate-, Aβ-, and tau-related pathways determine polygenic risk for Alzheimer's diseaseTed Lawingco, Sultan Chaudhury, Keeley J Brookes, et al.
Human Molecular Genetics|September 13, 2015
A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's diseaseCelia Kun-Rodrigues, Christos Ganos, Rita Guerreiro, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|April 22, 2017
<i>TBC1D24</i> Mutations in a Sibship with Multifocal PolymyoclonusAdeline Ngoh, Jose Bras, Rita Guerreiro, et al.
Neurobiology of Aging|December 25, 2019
Two pathologically confirmed cases of novel mutations in the MAPT gene causing frontotemporal dementiaRachelle Shafei, Ione O C Woollacott, Catherine J Mummery, et al.
Human Genomics|July 29, 2021
A comprehensive analysis of copy number variation in a Turkish dementia cohortNadia Dehghani, Gamze Guven, Celia Kun-Rodrigues, et al.
Neurobiology of Aging|August 16, 2016
Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutationJose Bras, Ruth Djaldetti, Ana Margarida Alves, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 4, 2013
Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous familyMaja Kojovic, Una-Marie Sheerin, Ignacio Rubio-Agusti, et al.
Neurobiology of Aging|July 17, 2013
Insights into TREM2 biology by network analysis of human brain gene expression dataPaola Forabosco, Adaikalavan Ramasamy, Daniah Trabzuni, et al.
Journal of Alzheimer'S Disease : JAD|November 27, 2018
Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal DementiaGamze Guven, Başar Bilgic, Zeynep Tufekcioglu, et al.
Journal of Veterinary Internal Medicine|August 14, 2020
A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type IKiterie M E Faller, Alison E Ridyard, Rodrigo Gutierrez-Quintana, et al.
Pageof 12