نتائج البحث

Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment.

• Authors : Nandy, Anirban¹ (AUTHOR); Tankisi, Hatice² (AUTHOR); Krøigård, Anne Bruun³ (AUTHOR)

• Source: BMC Neurology. 6/16/2023, Vol. 23 Issue 1, p1-8. 8p.

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A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report.

• Authors : Chen, Zhiyong¹ (AUTHOR) ; Saini, Monica¹ (AUTHOR); Koh, Jasmine Shimin¹ (AUTHOR)

• Source: BMC Neurology. 5/5/2023, Vol. 23 Issue 1, p1-8. 8p.

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Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2.

• Authors : Hedberg-Oldfors, Carola¹ (AUTHOR) ; Elíasdóttir, Ólöf² (AUTHOR); Geijer, Mats^3,4,5 (AUTHOR)

• Source: BMC Neurology. 11/15/2022, Vol. 22, p1-9. 9p.

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A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study.

• Authors : de Laat, E. C. M.; Houwen- van Opstal, S.L.S.; Bouman, K.

Subjects: LIMB-girdle muscular dystrophy; NATURAL history; DUAL-energy X-ray absorptiometry

• Source: BMC Neurology; 10/23/2024, Vol. 24 Issue 1, p1-11, 11p

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Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report.

• Authors : Landim, João Igor Dantas¹ (AUTHOR) ; Ribeiro, Ian Silva¹ (AUTHOR); Oliveira, Eduardo Braga² (AUTHOR)

• Source: BMC Neurology. 4/27/2023, Vol. 23 Issue 1, p1-5. 5p.

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A mutation in the filamin c gene causes myofibrillar myopathy with lower motor neuron syndrome: a case report.

• Authors : Chen, Juanjuan¹ (AUTHOR) ; Wu, Jun¹ (AUTHOR) ; Han, Chunxi² (AUTHOR)

• Source: BMC Neurology. 8/17/2019, Vol. 19 Issue 1, pN.PAG-N.PAG. 1p. 2 Color Photographs, 1 Black and White Photograph, 1 Graph.

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Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report.

• Authors : Hata, Takanori¹ (AUTHOR) ; Nagasaka, Takamura¹ (AUTHOR) ; Koh, Kishin¹ (AUTHOR)

• Source: BMC Neurology. 6/12/2019, Vol. 19 Issue 1, pN.PAG-N.PAG. 1p. 1 Color Photograph, 1 Diagram, 1 Chart.

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COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report.

• Authors : Bao, Mengxin^1,2 ; Mao, Fei¹ ; Zhao, Zhangning¹

• Source: BMC Neurology. 2/26/2019, Vol. 19 Issue 1, pN.PAG-N.PAG. 1p. 1 Color Photograph, 1 Graph.

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Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.

• Authors : Chen, Wei; Zhang, Youqiao; Ni, Yifeng

Subjects: ACYL coenzyme A; POLYMYOSITIS; GENETIC epidemiologyEUROPEAN Free Trade Association

• Source: BMC Neurology; 12/18/2019, Vol. 19 Issue 1, p1-7, 7p, 2 Charts, 1 Graph, 1 Map

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Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report.

• Authors : Zheng, Yiming; Zhao, Yawen; Zhang, Wei

Subjects: OLDER patients; ACYL coenzyme A; MUSCLE weakness

• Source: BMC Neurology; 12/2/2020, Vol. 20 Issue 1, pN.PAG-N.PAG, 1p

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