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American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|October 24, 2007
Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph diseaseSandra Martins, Paula Coutinho, Isabel Silveira, et al.
Expert Review of Neurotherapeutics|September 14, 2021
Cutting edge approaches to detecting brain mosaicism associated with common focal epilepsies: implications for diagnosis and potential therapiesZimeng Ye, Mark F Bennett, Melanie Bahlo, et al.
Foods (Basel, Switzerland)|February 25, 2022
A Biosurfactant from <i>Candida bombicola</i>: Its Synthesis, Characterization, and its Application as a Food EmulsionsMaria Isabel Silveira Pinto, Jenyffer Medeiros Campos Guerra, Hugo Morais Meira, et al.
European Journal of Human Genetics : EJHG|September 27, 2003
Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian originSandra Martins, Teresa Matamá, Laura Guimarães, et al.
Headache|June 6, 2014
The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in PortugalJosé Barros, Luis Ruano, Joana Domingos, et al.
European Journal of Human Genetics : EJHG|January 16, 2022
Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndromeTimothy E Green, Mareike Schimmel, Susanna Schubert, et al.
European Journal of Human Genetics : EJHG|September 25, 2020
Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1Patra Yeetong, Chaipat Chunharas, Monnat Pongpanich, et al.
American Journal of Medical Genetics. Part A|November 22, 2017
Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assayKenneth A Myers, Mark F Bennett, Chung W Chow, et al.
JAMA Neurology|February 15, 2013
Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese familyJosé Barros, Joana Damásio, Assunção Tuna, et al.
Disease Models & Mechanisms|March 19, 2026
Embryonic spinocerebellar ataxia type 37 AUUUC repeat RNA causes neurodevelopmental defects in zebrafishAna F Castro, Ana S Figueiredo, Joana R Loureiro, et al.
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