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Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele.
Rodriguez-Revenga, Laia; Pagonabarraga, Javier; Gómez-Anson, Beatriz; López-Mourelo, Olga; Izquierdo, Silvia; Alvarez-Mora, Maria Isabel; Granell, Esther; Madrigal, Irene; Milà, Montserrat.
Affiliation
  • Rodriguez-Revenga L; Biochemistry and Molecular Genetics Service, Hospital Clínic, C/Villarroel, 170, 08036, Barcelona, Spain.
  • Pagonabarraga J; CIBER de Enfermedades Raras (CIBERER), Barcelona, Spain.
  • Gómez-Anson B; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
  • López-Mourelo O; Neurology Service, Hospital Sant Pau, Barcelona, Spain.
  • Izquierdo S; CIBER de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain.
  • Alvarez-Mora MI; Neuroradiology Unit, Radiology Department, Hospital Sant Pau, Barcelona, Spain.
  • Granell E; Institut d'Investigacions Biomèdiques Sant Pau (IIB), Barcelona, Spain.
  • Madrigal I; PIC, IFAE, Universitat Autònoma Barcelona, Barcelona, Spain.
  • Milà M; Universitat Autònoma Barcelona (UAB), Barcelona, Spain.
Cerebellum ; 15(5): 570-7, 2016 10.
Article in En | MEDLINE | ID: mdl-27315125
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Full text: 1 Database: MEDLINE Main subject: Ataxia / Tremor / Gene Dosage / Fragile X Mental Retardation Protein / Fragile X Syndrome Type of study: Risk_factors_studies Limits: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Language: En Journal: Cerebellum Journal subject: CEREBRO Year: 2016 Type: Article Affiliation country: Spain
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Full text: 1 Database: MEDLINE Main subject: Ataxia / Tremor / Gene Dosage / Fragile X Mental Retardation Protein / Fragile X Syndrome Type of study: Risk_factors_studies Limits: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Language: En Journal: Cerebellum Journal subject: CEREBRO Year: 2016 Type: Article Affiliation country: Spain