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  • 1-8 ل  8 نتائج ل ""Cerebellar Ataxia""

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Collection : Universite Grenoble Alpes
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Academic Journal

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions ; Clés cliniques et génétiques de l'ataxie cérébelleuse causée par des expansions GAA de FGF14

Subjects: Diagnosis; GAA expansion; Hereditary cerebellar ataxia

  • Source: ISSN: 2352-3964 ; EBioMedicine ; https://hal.science/hal-04393590 ; EBioMedicine, 2024, 99, pp.104931. ⟨10.1016/j.ebiom.2023.104931⟩.

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Academic Journal

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions ; Clés cliniques et génétiques de l'ataxie cérébelleuse causée par des expansions GAA de FGF14

Subjects: Diagnosis; GAA expansion; Hereditary cerebellar ataxia

  • Source: ISSN: 2352-3964 ; EBioMedicine ; https://hal.science/hal-04393590 ; EBioMedicine, 2024, 99, pp.104931. ⟨10.1016/j.ebiom.2023.104931⟩.

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Academic Journal

Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity

Subjects: [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology; [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

  • Source: ISSN: 1097-2765.

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Academic Journal

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

Subjects: Phosphomannomutase; Cerebellar ataxia; Congenital disorder of glycosylation

  • Source: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://hal.sorbonne-universite.fr/hal-01112338 ; Orphanet Journal of Rare Diseases, 2014, 9 (1), pp.207. ⟨10.1186/s13023-014-0207-4⟩.

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Academic Journal

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

Subjects: cause spastic ataxia TUBA4A monoallelic variants cause spastic ataxia Ataxia TUBA4A Spasticity; De novo Tubulinopathy; Cerebellar atrophy Amyotrophic Lateral Sclerosis CCAS: Cerebellar Cognitive and Affective Syndrome FTD: Fronto-Temporal Dementia. HA: Hereditary Ataxia HSP: Hereditary Spastic Paraplegia LMN: Lower motor neuron MAP: Microtubule Associated Protein MT: Microtubules MSP: Multiple Systemic Proteinopathy PTM: Post-Translational Modifications PLS: Primary Lateral Sclerosis UMN: Upper motor neuron

  • Source: ISSN: 0006-8950.

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Academic Journal

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

Subjects: ataxia; TUBA4A; spasticity

  • Source: ISSN: 0006-8950.

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Academic Journal

IELSG38: phase II trial of front-line chlorambucil plus subcutaneous rituximab induction and maintenance in mucosa-associated lymphoid tissue lymphoma

Subjects: [SDV]Life Sciences [q-bio]

  • Source: ISSN: 0390-6078.

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Familial hemiplegic migraine type 1 mutations W1684R and V1696I alter G protein-mediated regulation of Ca(V)2.1 voltage-gated calcium channels.

Subjects: [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]; [SDV.BBM]Life Sciences [q-bio]/Biochemistry; Molecular Biology

  • Source: ISSN: 0006-3002 ; BBA - Biochimica et Biophysica Acta ; https://inserm.hal.science/inserm-00757116 ; BBA - Biochimica et Biophysica Acta, 2012, 1822 (8), pp.1238-46.

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  • 1-8 ل  8 نتائج ل ""Cerebellar Ataxia""