Fragile X‐associated tremor/ataxia syndrome: Regional decrease of mitochondrial DNA copy number relates to clinical manifestations-Reference-Cited by-同舟云学术

Fragile X‐associated tremor/ataxia syndrome: Regional decrease of mitochondrial DNA copy number relates to clinical manifestations

Published:2019-05-24 Issue: Volume: Page:e12565
ISSN:1601-1848
Container-title:Genes, Brain and Behavior
language:en
Short-container-title:Genes, Brain and Behavior

Author:

Alvarez‐Mora Maria I.¹²³,Podlesniy Petar⁴⁵,Gelpi Ellen³⁶⁷,Hukema Renate⁸^ORCID,Madrigal Irene¹²³,Pagonabarraga Javier⁹,Trullas Ramon³⁴⁵,Mila Montserrat¹²³,Rodriguez‐Revenga Laia¹²³^ORCID

Affiliation:

1. Biochemistry and Molecular Genetics DepartmentHospital Clinic of Barcelona Barcelona Spain

2. CIBER of Rare Diseases (CIBERER)Instituto de Salud Carlos III Barcelona Spain

3. Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) Barcelona Spain

4. Neurobiology UnitInstitut d'Investigacions Biomèdiques de Barcelona, Consejo Superior de Investigaciones Científicas (CSIC) Barcelona Spain

5. CIBER of Neurodegenerative Diseases (CIBERNED)Instituto de Salud Carlos III Barcelona Spain

6. Neurological Tissue Bank of the Biobanc‐Hospital Clinic Barcelona Spain

7. Institute of NeurologyMedical University of Vienna Vienna Austria

8. Department of Clinical GeneticsErasmus Medical Center Rotterdam The Netherlands

9. Neurology DepartmentUniversitat Autònoma de Barcelona, Hospital de la Santa Creu i Sant Pau Barcelona Spain

Funder

Instituto de Salud Carlos III

Ministerio de Ciencia e Innovación

Publisher

Wiley

Subject

Behavioral Neuroscience,Neurology,Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/gbb.12565

Reference30 articles.

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2. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates;Jacquemont S;Am J Hum Genet,2003

3. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers;Greco CM;Brain,2002

4. Peripheral nervous system pathology in fragile X tremor/ataxia syndrome (FXTAS);Gokden M;Neuropathology,2009

5. Widespread non‐central nervous system organ pathology in fragile X premutation carriers with fragile X‐associated tremor/ataxia syndrome and CGG knock‐in mice;Hunsaker MR;Acta Neuropathol,2011

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