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SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey.

• Authors : Yucesan, E.; Ugur Iseri, Sibel; Bilgic, B.

Subjects: CEREBELLAR ataxia; PERIPHERAL neuropathy; EXOMESTURKEY

• Source: Neurological Sciences. Dec2017, Vol. 38 Issue 12, p2203-2207. 5p.

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Cerebellar ataxia in the eastern and southern parts of Norway.

• Authors : Koht, J.; Tallaksen, C. M. E.

Subjects: CEREBELLAR ataxia; CEREBELLUM degeneration; FRIEDREICH'S ataxiaOSLO (Norway); NORWAY

• Source: Acta Neurologica Scandinavica: Supplementum. May2007 Supplement 187, Vol. 115, p76-79. 4p. 2 Charts, 1 Graph.

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Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.

• Authors : Senderek, Jan¹ ; Krieger, Michael¹; Stendel, Claudia¹

Subjects: *CEREBELLAR ataxia; *CEREBELLUM diseases; *CATARACT

• Source: Nature Genetics. Dec2005, Vol. 37 Issue 12, p1312-1314. 3p. 1 Diagram, 1 Chart.

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Identification of genes that modify ataxin-1-induced neurodegeneration.

• Authors : Fernandez-Funez, Pedro; Nino-Rosales, Maria Laura; de Gouyon, Beatrice

Subjects: ATAXIA; CEREBELLAR ataxia; NEURODEGENERATION

• Source: Nature. 11/2/2000, Vol. 408 Issue 6808, p101. 6p. 26 Color Photographs, 23 Black and White Photographs, 2 Charts.

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Department of Neurology Researcher Discusses Research in Cerebellar Ataxia (Gordon Holmes syndrome - A rare case of ataxia, hypogonadism, and cerebral white matter changes with expanding phenotype and review of cerebellar ataxia with...).

Subjects: CENTRAL nervous system diseases; NEUROLOGICAL disorders; CEREBELLAR ataxia

• Source: Genomics & Genetics Weekly; 9/27/2024, p236-236, 1p

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Study Data from Indian Institute of Technology Indore Provide New Insights into Miller Fisher Variant of Guillain-Barre Syndrome [Elucidating the pathobiology of Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS) with...].

Subjects: CENTRAL nervous system diseases; NEUROLOGICAL disorders; GUILLAIN-Barre syndrome

• Source: Drug Week; 12/6/2024, p3896-3896, 1p

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Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study.

• Authors : Bogdan, T.; Wirth, T.; Iosif, A.

Subjects: CEREBELLAR ataxia; MULTIPLE system atrophy; FRIEDREICH'S ataxia

• Source: Journal of Neurology; Dec2022, Vol. 269 Issue 12, p6354-6365, 12p

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Findings from Kohat University of Science and Technology Advance Knowledge in Hereditary Spastic Paraplegia (Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families).

Subjects: CENTRAL nervous system diseases; NEUROLOGICAL disorders; MOTOR neuron diseases

• Source: Genomics & Genetics Weekly; 10/11/2024, p558-558, 1p

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Post-zygotic de novo trinucleotide repeat expansion at spinocerebellar ataxia type 7 locus: evidence from an Indian family.

• Authors : Mittal, Uma¹; Roy, Sanghamitra¹; Jain, Satish^2,3

Subjects: *ATAXIA; *CEREBELLAR ataxia; *MOVEMENT disorders

• Source: Journal of Human Genetics. Mar2005, Vol. 50 Issue 3, p155-157. 3p.

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New Findings in Cerebellar Ataxia Described from Institute of Mother and Child (The New Face of Dynamic Mutation-The CAA [CAG]n CAA CAG Motif as a Mutable Unit in the TBP Gene Causative for Spino-Cerebellar Ataxia Type 17).

Subjects: CENTRAL nervous system diseases; NEUROLOGICAL disorders; CEREBELLAR ataxia

• Source: Pain & Central Nervous System Week; 8/30/2024, p845-845, 1p

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