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Academic Journal

Reply to "Cognition and motor phenotypes in ALS: a retrospective study".

Subjects: AMYOTROPHIC lateral sclerosis; PHENOTYPES; COGNITION

  • Source: Neurological Sciences. Dec2023, Vol. 44 Issue 12, p4531-4533. 3p.

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Academic Journal

Ethylmalonic Encephalopathy: a literature review and two new cases of mild phenotype.

Subjects: LITERATURE reviews; PHENOTYPES; BRAIN diseases

  • Source: Neurological Sciences. Nov2023, Vol. 44 Issue 11, p3827-3852. 26p.

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Academic Journal

Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Subjects: PHENOTYPES; AMINO acid sequence; MUSCLE diseases

  • Source: Neurological Sciences. Jul2021, Vol. 42 Issue 7, p2819-2827. 9p. 3 Color Photographs, 1 Chart, 2 Graphs.

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Academic Journal

Varied phenotypic spectrum presenting of paroxysmal exercise–induced dyskinesia: a Turkish family with SLC2A1 mutation.

Subjects: MOVEMENT disorders; PHENOTYPES; DYSKINESIAS

  • Source: Neurological Sciences. Nov2021, Vol. 42 Issue 11, p4751-4754. 4p. 1 Chart, 1 Graph.

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Academic Journal

Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.

Subjects: GENETIC mutation; PHENOTYPES; GENES

  • Source: Neurological Sciences. Apr2017, Vol. 38 Issue 4, p563-570. 8p.

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Academic Journal

Novel deletion in the ACTA1 gene associated with milder phenotype of nemaline myopathy in Chinese patient: a case report.

Subjects: NEMALINE myopathy; PHENOTYPES; DELETION mutation

  • Source: Neurological Sciences. Dec2021, Vol. 42 Issue 12, p5401-5405. 5p. 2 Color Photographs, 1 Graph.

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Academic Journal

A new mutation in DNM2 gene in a large Italian family.

Subjects: GENETIC mutation; PHENOTYPES; NUCLEOTIDE sequencing

  • Source: Neurological Sciences. Jun2021, Vol. 42 Issue 6, p2509-2513. 5p. 1 Black and White Photograph, 1 Diagram, 1 Chart.

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Academic Journal

Common functional polymorphisms in SLC6A4 and COMT genes are associated with circadian phenotypes in a South American sample.

Subjects: GENETIC polymorphisms; PHENOTYPES; CIRCADIAN rhythms

  • Source: Neurological Sciences. Jan2014, Vol. 35 Issue 1, p41-47. 7p.

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Academic Journal

Differences in cerebral perfusion according to phenotypes of essential tremor: brain perfusion SPECT study using SPM analysis.

Subjects: PHENOTYPES; TREMOR; BRAIN physiology

  • Source: Neurological Sciences. May2014, Vol. 35 Issue 5, p767-772. 6p.

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Academic Journal

Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1.

Subjects: PHENOTYPES; SPINOCEREBELLAR ataxia; CEREBELLAR ataxia

  • Source: Neurological Sciences. 2021, Vol. 42 Issue 2, p749-753. 5p. 1 Black and White Photograph, 1 Chart.

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  • 1-10 of  3,929 results for ""Phenotypes""