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Journal of Human Genetics|September 29, 2005
A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14Isabel Alonso, Cristina Costa, André Gomes, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|August 14, 2009
Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2)Eliana Marisa Ramos, Sandra Martins, Isabel Alonso, et al.
Epilepsia|June 7, 2024
SCN8A self-limited infantile epilepsy: Does epilepsy resolve?Emma Young, Rebekah Harris, Nico Lieffering, et al.
Human Mutation|December 28, 2018
Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitutionJoana R Loureiro, Cláudia L Oliveira, Carolina Mota, et al.
Annals of Neurology|February 28, 2012
Loss of junctophilin-3 contributes to Huntington disease-like 2 pathogenesisAna I Seixas, Susan E Holmes, Hiroshi Takeshima, et al.
Epilepsia|November 18, 2020
Transcriptome analysis of a ring chromosome 20 patient cohortKenneth A Myers, Mark F Bennett, Michael S Hildebrand, et al.
NAR Genomics and Bioinformatics|April 7, 2025
Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array dataErandee Robertson, Bronwyn E Grinton, Karen L Oliver, et al.
Behavioral and Brain Functions : BBF|June 7, 2011
FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypesAna I Seixas, José Vale, Paula Jorge, et al.
Plos One|February 24, 2009
Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)Teresa Almeida, Isabel Alonso, Sandra Martins, et al.
Epilepsia Open|December 22, 2023
Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case reportDenis M Nyaga, Michael S Hildebrand, Guillem de Valles-Ibáñez, et al.
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