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  • 1-4 ل  4 نتائج ل ""cerebellar ataxia""

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Collection : Universite Toulouse 2 - Jean Jaures
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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

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia

Subjects: SCA48; SCAR16; STUB1

  • Source: ISSN: 0340-5354.

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Academic Journal

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.

Subjects: Cerebellar ataxia; Genes; Recessive

  • Source: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://inserm.hal.science/inserm-00907850 ; Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.173. ⟨10.1186/1750-1172-8-173⟩.

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  • 1-4 ل  4 نتائج ل ""cerebellar ataxia""