Search Results

Display Settings
Results per page: 10
Sort By: Relevance
Filter
  • 1-10 of  737 results for ""CEREBELLAR ataxia""

Your Filters

Subject : mutation
Reset filters
Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request
Academic Journal

Amyotrophic Lateral Sclerosis with SOD1 Mutation Presenting with Progressive Cerebellar Ataxia.

  • Authors : Sequeira M; Neurology Department, Centro Hospitalar Universitário Lisboa Central, Lisboa, Portugal. .; Godinho F

Subjects: Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/genetics ; Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/pathology ; Superoxide Dismutase-1*/Superoxide Dismutase-1*/Superoxide Dismutase-1*/genetics

  • Source: Cerebellum (London, England) [Cerebellum] 2024 Aug; Vol. 23 (4), pp. 1702-1704. Date of Electronic Publication: 2023 Dec 05.Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

Chronic Cough and Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS): Screening for Mutations in Replication Factor C Subunit 1 (RFC1).

  • Authors : Palones E; Department of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain; Department of Respiratory Medicine, Institut de Recerca Sant Pau, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. Electronic address: .

Subjects: Bilateral Vestibulopathy*/Bilateral Vestibulopathy*/Bilateral Vestibulopathy*/genetics ; Cerebellar Ataxia*/Cerebellar Ataxia*/Cerebellar Ataxia*/genetics ; Chronic Cough*/Chronic Cough*/Chronic Cough*/genetics

  • Source: Archivos de bronconeumologia [Arch Bronconeumol] 2024 Aug; Vol. 60 (8), pp. 468-474. Date of Electronic Publication: 2024 May 04.Publisher: Elsevier España Country of Publication: Spain NLM ID: 0354720 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

[Late-Onset Cerebellar Ataxia with Neuropathy: Uncovering the Role of RFC1 Gene Mutations].

Subjects: Cerebellar Ataxia*/Cerebellar Ataxia*/Cerebellar Ataxia*/genetics ; Replication Protein C*/Replication Protein C*/Replication Protein C*/genetics ; Mutation*

  • Source: Revista medica de Chile [Rev Med Chil] 2023 Apr; Vol. 151 (4), pp. 524-529.Publisher: Sociedad Médica de Santiago Country of Publication: Chile NLM ID: 0404312 Publication Model: Print Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype.

  • Authors : Damásio J; Neurology Department, Centro Hospitalar Universitário do Porto, Porto, Portugal.; UnIGENe, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.

Subjects: Genetic Association Studies*/Genetic Association Studies*/Genetic Association Studies*/methods ; Genetic Predisposition to Disease* ; Mutation*

  • Source: Clinical genetics [Clin Genet] 2021 Dec; Vol. 100 (6), pp. 743-747. Date of Electronic Publication: 2021 Sep 08.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

Record details

Read More Add to Saved list
×
Report

A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity.

  • Authors : Baty K; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.

Subjects: Cerebellar Ataxia/Cerebellar Ataxia/Cerebellar Ataxia/*diagnosis ; Mitochondrial Diseases/Mitochondrial Diseases/Mitochondrial Diseases/*diagnosis ; Muscle, Skeletal/Muscle, Skeletal/Muscle, Skeletal/*pathology Ataxia Neuropathy Spectrum

  • Source: Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 Nov; Vol. 31 (11), pp. 1186-1193. Date of Electronic Publication: 2021 Jun 04.Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Report

Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3.

  • Authors : Paternoster L; Faculté de Médecine ULB, Université Libre de Bruxelles (ULB), Brussels, Belgium.; Soblet J

Subjects: Homozygote* ; Mutation* ; Phenotype*Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Nov; Vol. 182 (11), pp. 2685-2693. Date of Electronic Publication: 2020 Aug 18.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor.

  • Authors : Araki K; Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan.; Nakamura R

Subjects: Cerebellar Ataxia/Cerebellar Ataxia/Cerebellar Ataxia/*genetics ; Epilepsy, Absence/Epilepsy, Absence/Epilepsy, Absence/*genetics ; Mutation/Mutation/Mutation/*genetics

  • Source: Epilepsy research [Epilepsy Res] 2020 Aug; Vol. 164, pp. 106371. Date of Electronic Publication: 2020 May 22.Publisher: Elsevier Science Publishers Country of Publication: Netherlands NLM ID: 8703089 Publication Model: Print-Electronic Cited Medium: Internet

Record details

Read More Add to Saved list
×
Academic Journal

Homozygous sequestosome 1 ( SQSTM1 ) mutation: a rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsy.

  • Authors : Vedartham V; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology , Trivandrum , India.; Sundaram S

Subjects: Eye Movements* ; Mutation*; Cerebellar Ataxia/Cerebellar Ataxia/Cerebellar Ataxia/*etiology

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2019 Aug; Vol. 40 (4), pp. 376-379. Date of Electronic Publication: 2019 Sep 16.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read Online Read More Add to Saved list
×
Academic Journal

Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.

  • Authors : Vineeth VS; Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India.; Das Bhowmik A

Subjects: Homozygote* ; Mutation*; Abnormalities, Multiple/Abnormalities, Multiple/Abnormalities, Multiple/*pathology Facial Dysmorphism with Multiple Malformations

  • Source: Journal of human genetics [J Hum Genet] 2019 Feb; Vol. 64 (2), pp. 183-189. Date of Electronic Publication: 2018 Nov 20.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.

  • Authors : Teive HAG; Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Rua General Carneiro 1103/102, Centro, Curitiba, PR, 80060-150, Brazil. .; Camargo CHF

Subjects: Mutation*; Cerebellar Ataxia/Cerebellar Ataxia/Cerebellar Ataxia/*genetics ; Phospholipases/Phospholipases/Phospholipases/*genetics

  • Source: Cerebellum (London, England) [Cerebellum] 2018 Jun; Vol. 17 (3), pp. 380-385.Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Print Cited Medium: Internet ISSN: 1473-4230

Record details

Read More Add to Saved list
×
  • 1-10 of  737 results for ""CEREBELLAR ataxia""