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Journal of Vestibular Research: Equilibrium and Orientation, ISSN 0957-4271, 2015, Volume 25, Issue 1, pp. 1 - 7
Journal Article
BMC Neurology, ISSN 1471-2377, 05/2019, Volume 19, Issue 1, pp. 100 - 100
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 4 - 4
Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report... 
Joubert syndrome and related disorders | neuroimaging; molar tooth sign | cerebellar malformation | Oral-facial-digital syndrome type VI | RETINAL DEGENERATION | MEDICINE, RESEARCH & EXPERIMENTAL | VARADI-SYNDROME | SYNDROME-RELATED DISORDERS | HYPOTHALAMIC HAMARTOMA | FOLLOW-UP | neuroimaging | JOUBERT-SYNDROME | PSYCHOMOTOR RETARDATION | HIRSCHSPRUNG-DISEASE | molar tooth sign | OROFACIODIGITAL-SYNDROME | Abnormalities, Multiple - pathology | Kidney Diseases, Cystic - classification | Kidney Diseases, Cystic - diagnosis | Cerebellar Diseases - classification | Humans | Child, Preschool | Magnetic Resonance Imaging - methods | Infant | Male | Polydactyly - diagnosis | Cerebellum - abnormalities | Young Adult | Cerebellar Diseases - pathology | Kidney Diseases, Cystic - genetics | Adult | Female | Child | Orofaciodigital Syndromes - classification | Infant, Newborn | Neuroimaging - methods | Eye Abnormalities - diagnosis | Cerebellar Diseases - diagnosis | Eye Abnormalities - classification | Orofaciodigital Syndromes - genetics | Eye Abnormalities - genetics | Kidney Diseases, Cystic - pathology | Orofaciodigital Syndromes - pathology | Phenotype | Cerebellar Diseases - genetics | Eye Abnormalities - pathology | Abnormalities, Multiple - diagnosis | Adolescent | Retina - abnormalities | Retina - pathology | Orofaciodigital Syndromes - diagnosis | Polydactyly - pathology | Neuroimaging | Usage | Genetic aspects | Diagnosis | Research | Multiple abnormalities | Health aspects | Risk factors | Index Medicus
Journal Article
Neurology, ISSN 0028-3878, 2008, Volume 71, Issue 13, pp. 982 - 989
OBJECTIVE: To identify factors that determine disease severity and clinical phenotype of the most common spinocerebellar ataxias (SCAs), we studied 526... 
CAG REPEAT | GERMAN KINDREDS | GENOTYPE | FAMILIES | SCA1 | MACHADO-JOSEPH-DISEASE | EXPANSION | PHENOTYPE | CLINICAL-FEATURES | DOMINANT CEREBELLAR-ATAXIA | CLINICAL NEUROLOGY | Index Medicus | Abridged Index Medicus
Journal Article
Neurology, ISSN 0028-3878, 2008, Volume 70, Issue 7, pp. 556 - 565
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 2011, Volume 77, Issue 11, pp. 1035 - 1041
Journal Article
Movement Disorders, ISSN 0885-3185, 06/2008, Volume 23, Issue 8, pp. 1093 - 1099
Journal Article