نتائج البحث

Two Cases of Myofibrillar Myopathies: Genetic and Quality of Life Study.

• Authors : Angelini, Corrado¹ (AUTHOR) ; Ceolin, Chiara² (AUTHOR); Rodriguez, Alicia Aurora³ (AUTHOR)

• Source: Muscles (2813-0413). Jun2023, Vol. 2 Issue 2, p177-186. 10p.

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Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies.

• Authors : Muñoz-García, Mariana I.¹ (AUTHOR) ; Guerrero-Molina, María Paz¹ (AUTHOR) ; de Fuenmayor-Fernández de la Hoz, Carlos Pablo¹ (AUTHOR)

• Source: Journal of Clinical Medicine. May2023, Vol. 12 Issue 9, p3308. 9p.

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Muscle magnetic resonance imaging involvement patterns in nemaline myopathies.

• Authors : Perry, Luke^1,2,3 (AUTHOR) ; Stimpson, Georgia¹ (AUTHOR); Singh, Leeha¹ (AUTHOR)

• Source: Annals of Clinical & Translational Neurology. Jul2023, Vol. 10 Issue 7, p1219-1229. 11p.

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Elevated Expression of ADAM10 in Skeletal Muscle of Patients with Idiopathic Inflammatory Myopathies Could Be Responsible for FNDC5/Irisin Unbalance.

• Authors : Zerlotin, Roberta¹ (AUTHOR); Fornaro, Marco¹ (AUTHOR); Errede, Mariella² (AUTHOR)

Subjects: *SKELETAL muscle; *MUSCLE diseases; *IRISIN

• Source: International Journal of Molecular Sciences. Feb2023, Vol. 24 Issue 3, p2469. 13p.

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Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies

• Authors : Stefan Nicolau; Aneesha Dasgupta; Surendra Dasari

Subjects: Nemaline myopathy; NEB; ACTA1

• Source: Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-16 (2023)

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Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.

• Authors : Vecten, Maude^1,2 (AUTHOR) ; Pion, Emmanuelle^3,4 (AUTHOR) ; Bartoli, Marc² (AUTHOR)

Subjects: *MEDICAL care; *NEMALINE myopathy; *MUSCLE diseases

• Source: International Journal of Molecular Sciences. Aug2022, Vol. 23 Issue 15, p8506-8506. 12p.

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Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies.

• Authors : Nicolau, Stefan^1,2 (AUTHOR); Dasgupta, Aneesha^3,4,5 (AUTHOR); Dasari, Surendra⁶ (AUTHOR)

• Source: Acta Neuropathologica Communications. 1/26/2023, Vol. 11 Issue 1, p1-16. 16p.

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Congenital myopathies in adults: A diagnosis not to overlook.

• Authors : Pinto, Maria João^1,2 (AUTHOR) ; Passos, Bárbara Alves² (AUTHOR); Grangeia, Ana^3,4 (AUTHOR)

• Source: Acta Neurologica Scandinavica. Aug2022, Vol. 146 Issue 2, p152-159. 8p.

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Actin Polymerization Defects Induce Mitochondrial Dysfunction in Cellular Models of Nemaline Myopathies

• Authors : Rocío Piñero-Pérez; Alejandra López-Cabrera; Mónica Álvarez-Córdoba

Subjects: nemaline myopathy; actin polymerization; mitochondria

• Source: Antioxidants, Vol 12, Iss 12, p 2023 (2023)

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Disruption of cardio-pulmonary coupling in myopathies: Pathophysiological and mechanistic characterization with special emphasis on nemaline myopathy

• Authors : Diana Maria Ronderos-Botero; Arundhati Dileep; Laura Yapor

Subjects: heart failure; respiratory dysfunction; heart-lung interaction

• Source: Frontiers in Cardiovascular Medicine, Vol 9 (2022)

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