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Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia.

• Authors : Colombi M; Department of Biomedical Sciences and Biotechnology, University of Brescia, Italy.; Gardella R

Subjects: Chromosomes, Human, Pair 11*; Cerebellar Ataxia/Cerebellar Ataxia/Cerebellar Ataxia/*genetics ; Epidermolysis Bullosa Dystrophica/Epidermolysis Bullosa Dystrophica/Epidermolysis Bullosa Dystrophica/*genetics

• Source: Human genetics [Hum Genet] 1992 Jul; Vol. 89 (5), pp. 503-7.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Print ISSN: 0340-6717 (Print)

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Machado-Joseph disease: cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene.

• Authors : Takiyama Y; Department of Neurology, Jichi Medical School, Tochigi, Japan.; Sakoe K

Subjects: Alleles* ; Genes*; Autonomic Nervous System Diseases/Autonomic Nervous System Diseases/Autonomic Nervous System Diseases/*genetics

• Source: Neurology [Neurology] 1997 Aug; Vol. 49 (2), pp. 604-6.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print Cited Medium: Print ISSN:

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Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation).

• Authors : Glaser T; Department of Medicine and Howard Hughes Medical Institute, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115.; Ton CC

Subjects: Genes* ; Homeodomain Proteins*; Aniridia/Aniridia/Aniridia/*genetics

• Source: Genomics [Genomics] 1994 Jan 01; Vol. 19 (1), pp. 145-8.Publisher: Academic Press Country of Publication: United States NLM ID: 8800135 Publication Model: Print Cited Medium: Print ISSN: 0888-7543

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The type 1 inositol 1,4,5-trisphosphate receptor gene is altered in the opisthotonos mouse.

• Authors : Street VA; Department of Otolaryngology, University of Washington School of Medicine, Seattle 98195, USA.; Bosma MM

Subjects: Genes*; Calcium Channels/Calcium Channels/Calcium Channels/*genetics ; Cerebellar Ataxia/Cerebellar Ataxia/Cerebellar Ataxia/*genetics

• Source: The Journal of neuroscience : the official journal of the Society for Neuroscience [J Neurosci] 1997 Jan 15; Vol. 17 (2), pp. 635-45.Publisher: Society for Neuroscience Country of Publication: United States NLM ID: 8102140 Publication Model: Print Cited Medium: Print ISSN:

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De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

• Authors : Benkirane, Mehdi^1,2,3 (AUTHOR) ; Bonhomme, Marion⁴ (AUTHOR); Morsy, Heba^5,6 (AUTHOR)

Subjects: *CEREBELLAR ataxia; *FRIEDREICH'S ataxia; *AMYOTROPHIC lateral sclerosis

• Source: Brain: A Journal of Neurology. Nov2024, Vol. 147 Issue 11, p3681-3689. 9p.

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Cerebellar ataxia and total albinism: a kindred suggesting pleitotropism or linkage.

• Authors : Skre H; Berg K

Subjects: Chromosomes* ; Genes*; Albinism/Albinism/Albinism/*genetics

• Source: Clinical genetics [Clin Genet] 1974; Vol. 5 (3), pp. 196-204.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Print ISSN: 0009-9163 (Print)

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New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.

• Authors : Arteche‐López, Ana; Avila‐Fernandez, Almudena; Damian, Alejandra

Subjects: CEREBELLAR ataxia; HETEROZYGOSITY; RNA analysis

• Source: Clinical Genetics; Feb2023, Vol. 103 Issue 2, p236-241, 6p

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New Cerebellar Ataxia Study Findings Have Been Reported by Researchers at Institute for Cancer Research and Treatment (IRCCS) (Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations)

• Source: Obesity, Fitness & Wellness Week. March 1, 2020, 317

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Late-onset cerebellar ataxia: case report of a new CNV on TTBK2 gene as possible cause of SCA-11.

• Authors : Rodriguez, I.¹ (AUTHOR); Bochm, A.² (AUTHOR); Davila, E.² (AUTHOR)

Subjects: *CEREBELLAR ataxia; *GENES

• Source: Parkinsonism & Related Disorders. 2023 Supplement, Vol. 113, pN.PAG-N.PAG. 1p.

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Investigators at McGill University Zero in on Cerebellar Ataxia (Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia)

• Source: Obesity, Fitness & Wellness Week. November 2, 2019, 2217

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