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Publication : bmc neurology

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Academic Journal

Genetic analysis of a family affected by congenital myasthenic syndrome due to a Novel mutation in the SLC5A7 gene.

Authors : Tian, Sheng¹ (AUTHOR); Sun, Huan¹ (AUTHOR); Gao, Fen-Fang¹ (AUTHOR)

Source: BMC Neurology. 6/17/2024, Vol. 24 Issue 1, p1-6. 6p.

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Academic Journal

Case report of two affected siblings in a family with thiamine metabolism dysfunction syndrome 5: a rare, but treatable neurodegenerative disease.

Authors : Li, Xiaoyan¹ (AUTHOR); Huang, Zhixin¹ (AUTHOR); Chen, Yong¹ (AUTHOR)

Source: BMC Neurology. 9/29/2022, Vol. 22 Issue 1, p1-6. 6p.

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Academic Journal

Case report: exome sequencing achieved a definite diagnosis in a Chinese family with muscle atrophy.

Authors : Jiang, Hui^1,2,3 (AUTHOR); Guo, Chunmiao⁴ (AUTHOR); Xie, Jie^1,2,3 (AUTHOR)

Source: BMC Neurology. 3/2/2021, Vol. 21 Issue 1, p1-7. 7p.

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Academic Journal

Late-onset oro-facial dyskinesia in Spinocerebellar Ataxia type 2: a case report.

Authors : Giardina, Floriana¹ (AUTHOR); Lanza, Giuseppe^2,3 (AUTHOR) ; Calì, Francesco³ (AUTHOR)

Source: BMC Neurology. 4/27/2020, Vol. 20 Issue 1, p1-4. 4p. 1 Color Photograph.

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Academic Journal

Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report.

Authors : He, Ruojie¹ (AUTHOR); Li, Huan¹ (AUTHOR); Sun, Yiming² (AUTHOR)

Source: BMC Neurology. 3/2/2020, Vol. 20 Issue 1, p1-6. 6p. 2 Black and White Photographs, 1 Graph.

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Academic Journal

A novel frameshift GRN mutation results in frontotemporal lobar degeneration with a distinct clinical phenotype in two siblings: case report and literature review.

Authors : Takashi Hosaka¹; Kazuhiro Ishii¹ ; Takeshi Miura^2,3

Source: BMC Neurology. 9/15/2017, Vol. 17, p1-6. 6p. 1 Black and White Photograph, 1 Diagram, 1 Chart.

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Academic Journal

Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism.

Authors : Dolhun, Rachel¹; Presant, Erin M.¹; Hedera, Peter¹

Source: BMC Neurology. 2013, Vol. 13 Issue 1, p1-4. 4p. 1 Chart, 1 Graph.

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Academic Journal

Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG.

Authors : Villa, Davide¹ (AUTHOR); Cinnante, Claudia² (AUTHOR); Valcamonica, Gloria¹ (AUTHOR)

Source: BMC Neurology. 8/26/2020, Vol. 20 Issue 1, pN.PAG-N.PAG. 1p. 1 Black and White Photograph, 1 Diagram.

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Academic Journal

A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease.

Authors : Van Giau, Vo¹ (AUTHOR) ; Pyun, Jung-Min² (AUTHOR) ; Suh, Jeewon² (AUTHOR)

Source: BMC Neurology. 8/7/2019, Vol. 19 Issue 1, pN.PAG-N.PAG. 1p. 1 Color Photograph, 4 Diagrams, 2 Charts, 1 Graph.

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A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family.

Authors : Miao, Jing¹ ; Su, Fei-fei¹ ; Liu, Xue-mei¹

Source: BMC Neurology. 6/4/2018, Vol. 18 Issue 1, pN.PAG-N.PAG. 1p. 1 Color Photograph, 2 Black and White Photographs, 1 Diagram, 1 Graph.

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نتائج البحث

فلترة النتائج

Genetic analysis of a family affected by congenital myasthenic syndrome due to a Novel mutation in the SLC5A7 gene.

Case report of two affected siblings in a family with thiamine metabolism dysfunction syndrome 5: a rare, but treatable neurodegenerative disease.

Case report: exome sequencing achieved a definite diagnosis in a Chinese family with muscle atrophy.

Late-onset oro-facial dyskinesia in Spinocerebellar Ataxia type 2: a case report.

Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report.

A novel frameshift GRN mutation results in frontotemporal lobar degeneration with a distinct clinical phenotype in two siblings: case report and literature review.

Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism.

Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG.

A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease.

A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family.

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