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2018, ISBN 0444632336, Volume 147
The autosomal-recessive cerebellar ataxias comprise more than half of the known genetic forms of ataxia and represent an extensive group of clinically... 
genome | cerebellar ataxia | exome | ataxia | friedreich ataxia | genetic disease | autosomal recessive | Iron-Binding Proteins - genetics | Genes, Recessive - genetics | Humans | Friedreich Ataxia - genetics | Index Medicus
Book Chapter
Journal Article
European journal of medical genetics, ISSN 1769-7212, 07/2019, pp. 103726 - 103726
GRM1 gene, that is located on 6q24.3, encodes the metabotropic glutamate receptor type 1 (mGluR1), a transmembrane protein highly expressed in cerebellar... 
Journal Article
Pratique Neurologique - FMC, ISSN 1878-7762, 2011, Volume 2, Issue 4, pp. 237 - 249
Autosomal recessive cerebellar ataxias (ARCA) are complex and heterogeneous inherited neurodegenerative diseases that usually affect the cerebellum and/or the... 
Oculomotor apraxia | Friedreich's ataxia | Autosomal recessive | Cerebellar ataxia | Peripheral neuropathy | Movement disorders
Journal Article
Journal Article
Primary degenerative cerebellar ataxias in ethnic Bengalees in West Bengal: some observations, 12/2003
Seventy cases of primary degenerative cerebellar ataxias in ethnic Bengalees from southern West Bengal, India, were studied by the authors. Of these, 50 cases... 
Cerebellar ataxia, Autosomal recessive, Autosomal dominant, Ethnic variations
Journal
Chinese Journal of Medical Genetics, ISSN 1003-9406, 12/2012, Volume 29, Issue 6, pp. 673 - 676
Journal Article
Movement Disorders, ISSN 0885-3185, 12/2016, Volume 31, Issue 12, pp. 1929 - 1931
Video. Patient with ARCA because of the c.1150_1151delTT ANO10 mutation (Romani variant), showing some features of the phenotype. Segment 1, gaze-evoked... 
autosomal recessive cerebellar ataxia | ANO10 | genotype‐phenotype correlation | whole‐exome sequencing | founder mutation | whole-exome sequencing | genotype-phenotype correlation | CLINICAL NEUROLOGY | REVEALS | Genetic aspects | Romanies | Cerebellar ataxia | Medical genetics | Index Medicus
Journal Article
Journal Article
Revue Neurologique, ISSN 0035-3787, 2006, Volume 162, Issue 2, pp. 177 - 184
Introduction. Autosomal recessive cerebellar ataxias (ARCA) comprise a phenotypically and genetically heterogeneous group of diseases. Recently, a subgroup of... 
AOA1 | Oculomotor apraxia | SETX | AOA2 | Autosomal recessive cerebellar ataxias | APTX
Journal Article
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