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Academic Journal

Roussy-Lévy syndrome: a case of genotype-phenotype correlation.

Subjects: *CHARCOT-Marie-Tooth disease; *GENETIC techniques; *GENEALOGY

  • Source: Neurological Sciences. Oct2021, Vol. 42 Issue 10, p4357-4358. 2p.

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Academic Journal

TMEM151A phenotypic spectrum includes paroxysmal kinesigenic dyskinesia with infantile convulsions.

Subjects: DIAGNOSIS of epilepsy; NERVE tissue proteins; GENETIC mutation

  • Source: Neurological Sciences. Oct2022, Vol. 43 Issue 10, p6095-6099. 5p. 1 Illustration, 1 Chart, 1 Graph.

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Academic Journal

Association of HMOX-1 rs2071747 with sporadic Parkinson's disease in southern Han Chinese.

Subjects: PARKINSON'S disease; CHINESE people; POLYMERASE chain reactionCHINA

  • Source: Neurological Sciences. Jun2022, Vol. 43 Issue 6, p3671-3675. 5p. 3 Charts.

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Academic Journal

Neuronal ceroid lipofuscinoses: research update.

Subjects: FAMILY health; GENEALOGY; GENETIC techniques

  • Source: Neurological Sciences. Jun2000, Vol. 21 Issue 3, pS49-S56. 8p.

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Academic Journal

A new phenotype of MT-ND6 gene mutation for Leber's hereditary optic neuropathy.

Subjects: PROTEINS; DNA; GENETIC mutation

  • Source: Neurological Sciences. Oct2021, Vol. 42 Issue 10, p4367-4371. 5p. 2 Color Photographs, 1 Graph.

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Academic Journal

Adult-onset selective quadriceps femoris weakness in RYR1-related myopathy.

Subjects: MUSCLE diseases; SKELETAL muscle; QUADRICEPS muscle

  • Source: Neurological Sciences. May2022, Vol. 43 Issue 5, p3453-3455. 3p. 1 Chart.

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Academic Journal

A novel missense pathogenic variant in NEFH causing rare Charcot-Marie-Tooth neuropathy type 2CC.

Subjects: MUSCULAR atrophy; GENES; NEUROPATHY

  • Source: Neurological Sciences. 2021, Vol. 42 Issue 2, p757-763. 7p. 1 Diagram, 3 Charts, 1 Graph.

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Academic Journal

Predominant neurological phenotype in a Hungarian family with two novel mutations in the XPA gene-case series.

Subjects: XERODERMA pigmentosum; PHENOTYPES; FAMILIESEUROPE; HUNGARY

  • Source: Neurological Sciences. Jan2020, Vol. 41 Issue 1, p125-129. 5p. 1 Diagram, 1 Chart.

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Academic Journal

Identification of a novel splice mutation in CTNNB1 gene in a Chinese family with both severe intellectual disability and serious visual defects.

Subjects: INTELLECTUAL disabilities; GENE families; DISABILITIES

  • Source: Neurological Sciences. Aug2019, Vol. 40 Issue 8, p1701-1704. 4p. 1 Color Photograph, 1 Graph.

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Academic Journal

ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population.

Subjects: AMYOTROPHIC lateral sclerosis; LOGISTIC regression analysis; PARKINSON'S diseaseGREECE

  • Source: Neurological Sciences. Jun2019, Vol. 40 Issue 6, p1237-1244. 8p. 5 Charts.

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  • 1-10 of  141 results for ""Crosses, Genetic""