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The American Journal of Human Genetics, ISSN 0002-9297, 06/2017, Volume 100, Issue 6, pp. 969 - 977
Progressive limb spasticity and cerebellar ataxia are frequently found together in clinical practice and form a heterogeneous group of degenerative disorders... 
genetic | spasticity | leukodystrophy | NKX6-2 | ataxia | recessive | IDENTITY | HUMAN BRAIN | WHITE-MATTER | GENE | ABNORMALITIES | GENETICS & HEREDITY | REPRESSOR ACTIVITY | PSYCHIATRIC-DISORDERS | GTX | MOTOR-NEURON | HOMEODOMAIN PROTEIN | Brain - embryology | Humans | Amino Acid Transport Systems, Acidic - deficiency | Infant | Intellectual Disability - complications | Male | Psychomotor Disorders - complications | Gene Regulatory Networks | Intellectual Disability - genetics | Brain - metabolism | Young Adult | Mitochondrial Diseases - complications | Psychomotor Disorders - genetics | Antiporters - genetics | Adult | Female | Child | Hereditary Central Nervous System Demyelinating Diseases - genetics | Optic Atrophy - genetics | Spinocerebellar Ataxias - genetics | Antiporters - deficiency | Mitochondrial Diseases - genetics | Amino Acid Sequence | Spinocerebellar Ataxias - complications | Optic Atrophy - complications | Homeodomain Proteins - chemistry | Mutation - genetics | Homeodomain Proteins - genetics | Phenotype | Pedigree | Muscle Spasticity - complications | Amino Acid Transport Systems, Acidic - genetics | Hereditary Central Nervous System Demyelinating Diseases - complications | Muscle Spasticity - genetics | Causes of | Ataxia | Genetic aspects | Gene mutations | Health aspects | Index Medicus | Report
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 1/2012, Volume 109, Issue 5, pp. 1661 - 1666
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 05/2019, Volume 400, pp. 39 - 41
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) diagnosis is based on the presence of three main clinical features: 1) ataxia, 2) pyramidal... 
Gait disorder | Adult | ARSACS | Ataxia disorder | Recessive ataxia | Natural history | MUTATIONS | SCALE | NEUROSCIENCES | CLINICAL NEUROLOGY | Ataxia | Epilepsy
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 07/2016, Volume 24, Issue 7, pp. 1016 - 1021
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 07/2018, Volume 390, pp. 4 - 9
To assess the construct validity of the 10-Meter Walk Test (10mWT), Six-Minute Walk Test (6MWT), Berg Balance Scale (BERG), and Timed Up and Go (TUG) in adults... 
Mobility | Validity | ARSACS | Reliability | Recessive ataxia | Outcome assessment (health care) | STROKE | PHYSICAL PERFORMANCE-MEASURES | NEUROSCIENCES | CLINICAL NEUROLOGY | LIMB COORDINATION | IMPAIRMENT | Ataxia | Analysis | Index Medicus
Journal Article
Journal of Pediatric Neurosciences, ISSN 1817-1745, 07/2018, Volume 13, Issue 3, pp. 355 - 357
Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations of the gene, characterized by late-infantile-onset spastic ataxia and... 
ataxia | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | genetic study | Ataxia | Nervous system diseases | Genetic aspects | Atrophy | Proteins | Spinal cord | Nuclear magnetic resonance--NMR | Mutation | Peripheral neuropathy | Patients | Case Report
Journal Article
Scientific reports, ISSN 2045-2322, 2014, Volume 4, Issue 1, pp. 7132 - 7132
Journal Article
European Journal of Neurology, ISSN 1351-5101, 01/2013, Volume 20, Issue 1, pp. 138 - 146
Journal Article