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Respiratory muscle function in patients with nemaline myopathy

• Authors : van Kleef, Esmee S.B.; van Doorn, Jeroen L.M.; Gaytant, Michael A. ...

Subjects: Diaphragm; Nemaline myopathy; Respiratory muscles

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

• Authors : Dan Zhang; Li Yang; Xin Mu

Subjects: medicine.medical_specialty; Neurology; business.industry

• Source: Neurological Sciences. 42:5401-5405

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Clinico-pathological features and mutational spectrum of 16 nemaline myopathy patients from a Chinese neuromuscular center

• Authors : Huifang Wang; Chuanqiang Pu; Ke Li

Subjects: Adult; 0301 basic medicine; China

• Source: Acta Neurologica Belgica. 122:631-639

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Nemaline myopathy with dilated cardiomyopathy and severe heart failure: A case report

• Authors : Fan Hu; Qian Wang

Subjects: medicine.medical_specialty; medicine.medical_treatment; Cardiomyopathy

• Source: World Journal of Clinical Cases

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α‐tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy

• Authors : Lee-Cyn Ang; Kristopher D. Langdon; Craig Campbell

Subjects: Neuromuscular disease; Genetic counseling; lcsh:Medicine

• Source: Clinical Case Reports, Vol 9, Iss 3, Pp 1672-1676 (2021)Paediatrics PublicationsClinical Case Reports

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Removal of MuRF1 Increases Muscle Mass in Nemaline Myopathy Models, but Does Not Provide Functional Benefits

• Authors : Johan Lindqvist; Justin Kolb; Josine de Winter ...

Subjects: Sarcomeres; Ubiquitin-Protein Ligases; Organic Chemistry

• Source: International Journal of Molecular Sciences, 23(15):8113. Multidisciplinary Digital Publishing Institute (MDPI)Lindqvist, J, Kolb, J, de Winter, J, Tonino, P, Hourani, Z, Labeit, S, Ottenheijm,

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Self-reported functioning among patients with ultra–rare nemaline myopathy or a related disorder in Finland: a pilot study

• Authors : Lehtokari, Vilma-Lotta; Similä, Minna; Tammepuu, Marianne ...

Subjects: General medicine; internal medicine and other clinical medicine

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An Unusual Case of Nemaline Myopathy Type 3

• Authors : S. K. Mishra; S. Khosa; K. Tripathi

Subjects: General Medicine

• Source: Journal of Advances in Medicine and Medical Research. :190-194

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Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese

• Authors : Frank Ying-Kit Leung; Luen-Cheung Ho; Siu-Ki Timothy Chan

Subjects: Male; Muscle Proteins; Muscle disorder

• Source: Journal of Neuropathology & Experimental Neurology. 78:854-864

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Nemaline Myopathy Initially Diagnosed as Right Heart Failure with Type 2 Respiratory Failure

• Authors : Shingo Maeda; Sayuri Shima; Nagao Ryunosuke

Subjects: Heart Failure; medicine.medical_specialty; biology

• Source: Internal medicine (Tokyo, Japan). 61(12)

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