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  • 1-10 ل  361 نتائج ل ""Neurologie""

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Subject : [sdv.gen]life sciences [q-bio]/genetics
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Academic Journal

Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease

Subjects: CMTX; connexine 32; hereditary peripheral neuropathy

  • Source: ISSN: 1351-5101.

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Academic Journal

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Subjects: Neurodegenerative diseases; Genomic instability; Neurological disorders

  • Source: ISSN: 2041-1723.

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Academic Journal

Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy ; Expanding the phenotype of sca19/22: parkinsonism, cognitive impairment and epilepsy

Subjects: Mesh:Parkinsonian Disorders/genetics; Mesh:Middle Aged; Mesh:Pedigree

  • Source: ISSN: 1353-8020.

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Academic Journal

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression

Subjects: [SCCO.PSYC]Cognitive science/Psychology; [SDV.GEN]Life Sciences [q-bio]/Genetics; [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

  • Source: ISSN: 1932-6203.

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Academic Journal

Treatment of Charcot-Marie-Tooth neuropathies

Subjects: [SDV.GEN]Life Sciences [q-bio]/Genetics

  • Source: ISSN: 0035-3787 ; Revue Neurologique ; https://amu.hal.science/hal-04254190 ; Revue Neurologique, 2023, 179 (1-2), pp.35-48. ⟨10.1016/j.neurol.2022.11.006⟩.

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Academic Journal

Radio-chemotherapy feasibility for biopsy-only unresectable IDH wild-type glioblastomas (BO-GBM)

Subjects: [SDV.GEN]Life Sciences [q-bio]/Genetics

  • Source: ISSN: 2054-2577.

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Academic Journal

Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity.

Subjects: mitochondrial DNA; heteroplasmy; mitochondrial diseases

  • Source: ISSN: 1567-7249 ; Mitochondrion ; https://inserm.hal.science/inserm-01067959 ; Mitochondrion, 2014, 15, pp.34-9. ⟨10.1016/j.mito.2014.03.010⟩.

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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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Academic Journal

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

Subjects: Epilepsy; Genetics; KCNQ2

  • Source: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://inserm.hal.science/inserm-00829466 ; Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.80. ⟨10.1186/1750-1172-8-80⟩.

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Academic Journal

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.

Subjects: Niemann-Pick disease type C; Paediatric; Miglustat

  • Source: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://inserm.hal.science/inserm-00723766 ; Orphanet Journal of Rare Diseases, 2012, 7 (1), pp.36. ⟨10.1186/1750-1172-7-36⟩.

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  • 1-10 ل  361 نتائج ل ""Neurologie""