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Academic Journal

A patient with demyelinating CMT carrying the p.Y347C heterozygous variant of the MME gene and the p.L131F heterozygous variant of the HARS1 gene.

Subjects: *GENETIC variation; *RECESSIVE genes; *HEREDITY

  • Source: Neurological Sciences. Apr2023, Vol. 44 Issue 4, p1455-1456. 2p.

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Academic Journal

The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies.

Subjects: ETIOLOGY of diseases; RECESSIVE genes; EPILEPSY

  • Source: Neurological Sciences. Dec2020, Vol. 41 Issue 12, p3729-3739. 11p. 2 Color Photographs, 4 Charts, 1 Graph.

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Academic Journal

Association of CD1 and FcγR gene polymorphisms with Guillain-Barré syndrome susceptibility: a meta-analysis.

Subjects: RECESSIVE genes; FC receptors; GENETIC models

  • Source: Neurological Sciences. Dec2018, Vol. 39 Issue 12, p2141-2149. 9p. 1 Diagram, 5 Charts, 1 Graph.

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Academic Journal

A novel ATP13A2 variant causing complicated hereditary spastic paraplegia.

Subjects: FAMILIAL spastic paraplegia; PARKINSON'S disease; WHOLE genome sequencing

  • Source: Neurological Sciences; Apr2024, Vol. 45 Issue 4, p1749-1753, 5p

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Academic Journal

Transcranial sonography changes in heterozygotic carriers of the ATP7B gene.

Subjects: TATA Consultancy Services Ltd.; HEPATOLENTICULAR degeneration; RECESSIVE genes

  • Source: Neurological Sciences. Sep2020, Vol. 41 Issue 9, p2605-2612. 8p. 1 Color Photograph, 1 Chart, 2 Graphs.

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Academic Journal

Han family with essential tremor caused by the P421L variant of the TENM4 gene in China.

Subjects: ESSENTIAL tremor; GENETIC variation; GENE expressionCHINA

  • Source: Neurological Sciences. Jun2023, Vol. 44 Issue 6, p2003-2015. 13p. 1 Black and White Photograph, 1 Diagram, 2 Charts, 1 Graph.

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Academic Journal

Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing.

Subjects: PEOPLE with epilepsy; CHINESE people; CHILDREN with epilepsy

  • Source: Neurological Sciences. Jul2022, Vol. 43 Issue 7, p4439-4451. 13p. 1 Diagram, 2 Charts, 1 Graph.

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Academic Journal

Whole-exome sequencing analysis to identify novel potential pathogenetic NPC1 mutations in two Chinese families with Niemann-Pick disease type C.

Subjects: NIEMANN-Pick diseases; LIPIDOSES; SEQUENCE analysisCHINA

  • Source: Neurological Sciences. Jun2022, Vol. 43 Issue 6, p3957-3966. 10p. 3 Color Photographs, 2 Diagrams, 2 Charts, 1 Graph.

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Academic Journal

CACNA1B gene variants in adult-onset isolated focal dystonia.

Subjects: FOCAL dystonia; GENES; FRAMESHIFT mutation

  • Source: Neurological Sciences. 2021, Vol. 42 Issue 3, p1113-1117. 5p. 2 Color Photographs, 1 Chart.

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Academic Journal

Deep brain stimulation of globus pallidus internus and subthalamic nucleus in Parkinson's disease: a multicenter, retrospective study of efficacy and safety.

Subjects: DEEP brain stimulation; BRAIN stimulation; PARKINSON'S disease

  • Source: Neurological Sciences. Jan2024, Vol. 45 Issue 1, p177-185. 9p.

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  • 1-10 of  60 results for ""RECESSIVE genes""