Association of UBQLN1 mutation with Brown–Vialetto–Van Laere syndrome but not typical ALS
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چکیده
منابع مشابه
Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS.
UNLABELLED Genetic variants in UBQLN1 gene have been linked to neurodegeneration and mutations in UBQLN2 have recently been identified as a rare cause of amyotrophic lateral sclerosis (ALS). OBJECTIVE To test if genetic variants in UBQLN1 are involved in ALS. METHODS 102 and 94 unrelated patients with familial and sporadic forms of ALS were screened for UBQLN1 gene mutations. Single nucleot...
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The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. Fifty-eight cases have been reported in just over 100 years. The female to male ratio is approximately 3:1. The age of onset of the initial symptom varies from infancy to the third decade. The syndrome most frequently presents with s...
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ژورنال
عنوان ژورنال: Neurobiology of Disease
سال: 2012
ISSN: 0969-9961
DOI: 10.1016/j.nbd.2012.06.018