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Neurologic Clinics, ISSN 0733-8619, 11/2013, Volume 31, Issue 4, pp. xi - xii
Journal Article
The Lancet Neurology, ISSN 1474-4422, 05/2019, Volume 18, Issue 5, pp. 426 - 426
Journal Article
Cerebellum & ataxias, ISSN 2053-8871, 2018, Volume 5, Issue 1, pp. 12 - 3
Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome) is a rare recessive neurodegenerative disorder that can present with gait ataxia,... 
Case studies | Vitamin B2 | Dosage and administration | Genetic aspects | Children | Diagnosis | Drug therapy | Diseases | Atrophy | Gait | Laboratories | Vitamin B | Genes | Ataxia | Mutation | Hearing impairment | Metabolism | Patients | Drug dosages | Age | Riboflavin | Spinocerebellar Ataxia | Neurogenetics | Cerebellar Ataxia | SLC52A2
Journal Article
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
Book Chapter
Annals of Neurology, ISSN 0364-5134, 06/2018, Volume 83, Issue 6, pp. 1072 - 1074
Journal Article
2018, ISBN 0444632336, Volume 147
The influence of genetics on neurologic disease is broad and it is becoming more common that clinicians are presented with a patient whose disease is likely of... 
genome | genetics | exome | diagnostic testing | next-generation sequencing | neurogenetics | Genetic Predisposition to Disease - genetics | Nervous System Diseases - genetics | Genetic Testing - methods | Nervous System Diseases - diagnosis | Humans | Genome - genetics
Book Chapter
Movement Disorders, ISSN 0885-3185, 02/2015, Volume 30, Issue 2, pp. 284 - 286
Journal Article
Annals of the New York Academy of Sciences, ISSN 0077-8923, 02/2016, Volume 1366, Issue 1, pp. 49 - 60
Journal Article
Tremor and Other Hyperkinetic Movements, 10/2019, Volume 9, pp. 1 - 4
Background: Ataxias represent a challenging group of disorders due to significant clinical overlap. Here, we present a patient with early-onset progressive... 
senataxin | polyneuropathy | Ataxia | alpha-fetoprotein | cerebellar atrophy
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 9/2012, Volume 27, Issue 9, pp. 1138 - 1145
Childhood presentations of ataxia, an impairment of balance and coordination caused by damage to or dysfunction of the cerebellum, can often be challenging to... 
ataxia | spinocerebellar ataxia | autosomal recessive | cerebellum | ANTIBODIES | DIAGNOSIS | MANAGEMENT | PREVALENCE | CLINICAL NEUROLOGY | CHILDREN | PATHOGENESIS | GENE | PEDIATRICS | LATE-ONSET CEREBELLAR | MUTATIONS | FRIEDREICH ATAXIA | Neuroimaging | Cerebellar Ataxia - genetics | Child | Humans | Age of Onset | Cerebellar Ataxia - etiology | Cerebellum | Children | Coordination | Etiology | Cerebellar ataxia | Age | children
Journal Article
Movement Disorders, ISSN 0885-3185, 12/2012, Volume 27, Issue 14, p. 1835
Journal Article
Neurology: Clinical Practice, ISSN 2163-0402, 4/2016, Volume 6, Issue 2, pp. 164 - 176
110 | 111 | 325 | 329 | Review
Journal Article
Neurology: Clinical Practice, ISSN 2163-0402, 04/2016, Volume 6, Issue 2, pp. 164 - 176
The landscape of genetic diagnostic testing has changed dramatically with the introduction of next-generation clinical exome sequencing (CES), which provides... 
Journal Article
Nature Genetics, ISSN 1061-4036, 05/2015, Volume 47, Issue 6, pp. 579 - 581
Journal Article
JAMA Neurology, ISSN 2168-6149, 10/2014, Volume 71, Issue 10, pp. 1237 - 1246
IMPORTANCE: Cerebellar ataxias are a diverse collection of neurologic disorders with causes ranging from common acquired etiologies to rare genetic conditions.... 
MUTATIONS | UTILITY | CLINICAL NEUROLOGY | FEATURES | TOOL | Genetic Predisposition to Disease | Humans | Middle Aged | Child, Preschool | Male | Sequence Analysis, DNA | Young Adult | Exome - genetics | Phenotype | Cerebellar Ataxia - genetics | Adolescent | Aged, 80 and over | Adult | Female | Aged | Child | Cohort Studies
Journal Article
Annals of Neurology, ISSN 0364-5134, 06/2016, Volume 79, Issue 6, pp. 1031 - 1037
Journal Article
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