Search Results

Novel KCNQ2 missense variant expands the genotype spectrum of DEE7.

• Authors : Wang, Chao (AUTHOR); Zhai, JinXia (AUTHOR); Chen, YongJun (AUTHOR)

Subjects: MISSENSE mutation; GENETIC profile; AUTISM spectrum disorders

• Source: Neurological Sciences. Nov2024, Vol. 45 Issue 11, p5481-5488. 8p.

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Novel missense variant in the TMEM151A gene causing paroxysmal kinesigenic dyskinesia: a case report with literature review.

• Authors : Liu, Yue (AUTHOR); Wang, Liang (AUTHOR); Li, Zhenfei (AUTHOR)

Subjects: MISSENSE mutation; LITERATURE reviews; GENETIC variation

• Source: Neurological Sciences. Apr2023, Vol. 44 Issue 4, p1405-1409. 5p. 2 Diagrams, 1 Chart.

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Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5.

• Authors : Bian, Xianli (AUTHOR); Wang, Shang (AUTHOR); Jin, Suqin (AUTHOR)

Subjects: SPINOCEREBELLAR ataxia; MISSENSE mutation; GENETIC variationSHANDONG Sheng (China)

• Source: Neurological Sciences. Dec2021, Vol. 42 Issue 12, p5195-5203. 9p. 1 Black and White Photograph, 2 Diagrams, 2 Charts, 1 Graph.

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A novel missense mutation in the ABCD1 gene of a Chinese boy diagnosed with X-linked adrenoleukodystrophy: case report.

• Authors : Zhang, Mengqi (AUTHOR); Shi, Shupeng (AUTHOR); Zhang, Haoran (AUTHOR)

Subjects: ADRENOLEUKODYSTROPHY; MISSENSE mutation; VISUAL evoked potentials

• Source: Neurological Sciences. May2019, Vol. 40 Issue 5, p1093-1096. 4p. 2 Diagrams, 1 Chart.

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A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management.

• Authors : Pavanello, Marco (AUTHOR); Fiaschi, Pietro (AUTHOR); Accogli, Andrea (AUTHOR)

Subjects: VASCULAR diseases; MISSENSE mutation; MOYAMOYA disease

• Source: Neurological Sciences. Dec2021, Vol. 42 Issue 12, p5433-5439. 7p. 2 Color Photographs, 1 Black and White Photograph.

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NEK1 mutations and the risk of amyotrophic lateral sclerosis (ALS): a meta-analysis.

• Authors : Yao, Luqing (AUTHOR); He, Xiaoyan (AUTHOR); Cui, Baolong (AUTHOR)

Subjects: AMYOTROPHIC lateral sclerosis; MISSENSE mutation; ASIANS

• Source: Neurological Sciences. Apr2021, Vol. 42 Issue 4, p1277-1285. 9p. 1 Diagram, 7 Charts, 1 Graph.

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A novel S379A TARDBP mutation associated to late-onset sporadic ALS.

• Authors : Sprovieri, Teresa (AUTHOR); Ungaro, Carmine (AUTHOR); Perrone, Benedetta (AUTHOR)

Subjects: AMYOTROPHIC lateral sclerosis; MISSENSE mutation; GENES

• Source: Neurological Sciences. Oct2019, Vol. 40 Issue 10, p2111-2118. 8p. 3 Diagrams, 1 Chart, 1 Graph.

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In silico induction of missense mutation in NNRTI protein: computational modelling and stability study of modelled proteins.

• Authors : Sule, Laxmi; Gupta, Swagata; Jain, Nilanjana

Subjects: AMINO acid residues; REVERSE transcriptase; PROTEIN stability

• Source: Journal of Mathematical Chemistry; Nov2024, Vol. 62 Issue 10, p2776-2797, 22p

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A homozygous missense variant in PTPN2 with early-onset Crohn's disease, growth failure and dysmorphic features in an infant: a case report.

• Authors : AWWAD, JOHNNY¹ (AUTHOR); SOUAID, MIRNA² (AUTHOR); YAMMINE, TONY² (AUTHOR)

Subjects: *CROHN'S disease; *MISSENSE mutation; *MEDICAL genetics

• Source: Journal of Genetics. Dec2023, Vol. 102 Issue 2, p1-5. 5p.

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Carboplatin/Paclitaxel: Lack of efficacy : case report.

Subjects: *CHRONIC cough; *MISSENSE mutation; *LUNG diseases

• Source: Reactions Weekly. 8/10/2024, Vol. 2020 Issue 1, p118-118. 1p.

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