نتائج البحث

Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy.

• Authors : Nóbrega, Paulo Ribeiro^1,2,3 (AUTHOR) ; de Brito de Souza, Jorge Luiz⁴ (AUTHOR); Maurício, Rebeca Bessa⁴ (AUTHOR)

• Source: Neurological Sciences. Mar2024, Vol. 45 Issue 3, p1225-1231. 7p.

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

• Authors : Yang, Li¹ (AUTHOR); Mu, Xin² (AUTHOR); Shen, Qiuyan¹ (AUTHOR)

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

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Clinical phenotype and next-generation sequencing as essential tools for the diagnosis of a rare form of congenital myopathy due to a TRIP4 intragenic deletion.

• Authors : Decio, Alice¹ (AUTHOR) ; Giorda, Roberto² (AUTHOR); Panzeri, Elena² (AUTHOR)

• Source: Neurological Sciences. Feb2024, Vol. 45 Issue 2, p819-823. 5p.

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Expanding the spectrum of congenital myopathies: prenatal onset with extreme hyperextension of the neck.

• Authors : Tiberi, Eloisa¹ (AUTHOR); Costa, Simonetta¹ (AUTHOR); De Rose, Domenico Umberto^1,2 (AUTHOR)

• Source: Neurological Sciences. Apr2021, Vol. 42 Issue 4, p1549-1553. 5p. 2 Color Photographs, 2 Black and White Photographs.

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p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome.

• Authors : Rigamonti, Andrea¹ (AUTHOR) ; Mantero, Vittorio¹ (AUTHOR); Peverelli, Lorenzo² (AUTHOR)

• Source: Neurological Sciences. Dec2021, Vol. 42 Issue 12, p5359-5363. 5p. 2 Color Photographs, 1 Diagram.

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A novel homozygous splicing mutation of the AGL gene in a Chinese patient with severe myopathy involvement of glycogen storage disease type IIIa.

• Authors : Li, Ying¹ (AUTHOR); Qi, Xueliang² (AUTHOR); Zhang, Wei³ (AUTHOR)

• Source: Neurological Sciences. Apr2021, Vol. 42 Issue 4, p1623-1625. 3p. 1 Color Photograph, 1 Black and White Photograph, 1 Diagram.

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The role of amyloid β in the pathological mechanism of GNE myopathy.

• Authors : Zhang, Tongtong; Shang, Ren; Miao, Jing

Subjects: AMYLOID; MOLECULAR chaperones; MUSCLE diseases

• Source: Neurological Sciences; Nov2022, Vol. 43 Issue 11, p6309-6321, 13p, 2 Diagrams

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Vitamin D receptor gene polymorphism in patients with osteomalacic myopathy in Egypt.

• Authors : Shokri, Hossam M.; Mohamed, Karim O.; Fahmy, Nagia A.

Subjects: VITAMIN D receptors; GENETIC polymorphisms; MUSCLE diseasesEGYPT

• Source: Neurological Sciences; 2021, Vol. 42 Issue 3, p1031-1037, 7p, 1 Color Photograph, 1 Black and White Photograph, 5 Charts, 1 Graph

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Atypical motor neuron disease with bent spine clinical onset and long survival carrying C9orf72 expansion.

• Authors : Santarelli, Marialaura¹ (AUTHOR); De Giglio, Laura¹ (AUTHOR); Altavista, Maria C.¹ (AUTHOR)

• Source: Neurological Sciences. 2021, Vol. 42 Issue 1, p353-355. 3p. 1 Color Photograph, 1 Black and White Photograph.

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Absent trochlear and abducens nerves in a patient with congenital fibrosis of extraocular muscles.

• Authors : Yang, Hee Kyung; Kim, Jae Hyoung; Hwang, Jeong-Min

Subjects: EYE muscles; NERVES; ACOUSTIC nerve

• Source: Neurological Sciences; Apr2020, Vol. 41 Issue 4, p977-979, 3p, 1 Diagram

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