Výsledky vyhledávání - "Stefan Nicolau"

Akademický článek

CRISPR-Cas9 homology-independent targeted integration of exons 1–19 restores full-length dystrophin in mice

Autor: Anthony A. Stephenson, Stefan Nicolau, Tatyana A. Vetter, Gabrielle P. Dufresne, Emma C. Frair, Jessica E. Sarff, Gregory L. Wheeler, Benjamin J. Kelly, Peter White, Kevin M. Flanigan

Publikováno v: Molecular Therapy: Methods & Clinical Development, Vol 30, Iss , Pp 486-499 (2023)

Duchenne muscular dystrophy is an X-linked disorder typically caused by out-of-frame mutations in the DMD gene. Most of these are deletions of one or more exons, which can theoretically be corrected through CRISPR-Cas9-mediated knockin. Homology-inde

Externí odkaz: https://doaj.org/article/3a64dafda5294680b6d821cf373f9511

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Akademický článek

Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies

Autor: Stefan Nicolau, Aneesha Dasgupta, Surendra Dasari, M. Cristine Charlesworth, Kenneth L. Johnson, Akhilesh Pandey, Jason D. Doles, Margherita Milone

Publikováno v: Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-16 (2023)

Abstract Acquired sporadic late onset nemaline myopathy (SLONM) and inherited nemaline myopathy (iNM) both feature accumulation of nemaline rods in muscle fibers. Unlike iNM, SLONM is amenable to therapy. The distinction between these disorders is th

Externí odkaz: https://doaj.org/article/6acd5dccc2d54faeb9ba149869c3f6dd

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Akademický článek

Imported Haycocknema perplexum Infection, United States

Autor: Bobbi S. Pritt, Blaine A. Mathison, Richard S. Bradbury, Teerin Liewluck, Stefan Nicolau, John C. O’Horo, David Grunst, Marcus V. Pinto, Amy A. Swanson, Abinash Virk

Publikováno v: Emerging Infectious Diseases, Vol 28, Iss 11, Pp 2281-2284 (2022)

We report an imported case of myositis caused by a rare parasite, Haycocknema perplexum, in Australia in a 37-year-old man who had progressive facial, axial, and limb weakness, dysphagia, dysphonia, increased levels of creatine kinase and hepatic ami

Externí odkaz: https://doaj.org/article/5d193a6ecba54851a452d15980f779c0

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Akademický článek

GYG1: A distal myopathy with polyglucosan bodies

Autor: Stefan Nicolau, Jennifer A. Tracy, David J. Pisapia, Kurenai Tanji, Margherita Milone

Publikováno v: JIMD Reports, Vol 55, Iss 1, Pp 88-90 (2020)

Abstract Mutations in glycogenin‐1 (GYG1) cause an adult‐onset polyglucosan body myopathy. We report here a patient presenting with late‐onset distal myopathy. We wish to highlight this rare clinical phenotype of GYG1‐related myopathy and the

Externí odkaz: https://doaj.org/article/90efa63d2b264523a98abef4b8d1fc61

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Akademický článek

Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD)

Autor: Allison Ducharme-Smith, Stefan Nicolau, C. Anwar A. Chahal, Kirstie Ducharme-Smith, Shujah Rehman, Keerthi Jaliparthy, Nadeem Khan, Christopher G. Scott, Erik K. St Louis, Teerin Liewluck, Virend K. Somers, Grace Lin, Peter A. Brady, Margherita Milone

Publikováno v: Frontiers in Neurology, Vol 12 (2021)

Background: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies and predominantly affects facial and shoulder girdle muscles. Previous case reports and cohort studies identified minor cardiac abnormalities in

Externí odkaz: https://doaj.org/article/708cba865af443a09ca86b6330e0bad7

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Akademický článek

Novel Desmin Mutation Causing Myofibrillar Myopathy in a Hmong Family

Autor: Stefan Nicolau, Benjamin M. Howe, Elie Naddaf

Publikováno v: Frontiers in Neurology, Vol 10 (2020)

Myofibrillar myopathies (MFM) are a clinically and genetically heterogenous group of inherited myopathies characterized by aggregation of Z-disc proteins. Mutations in desmin account for ~7% of MFM. We report here a Hmong family with an autosomal dom

Externí odkaz: https://doaj.org/article/eee7e320506a462da8a2a4bb2ca60365

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Akademický článek

The Electrophysiology of Presynaptic Congenital Myasthenic Syndromes With and Without Facilitation: From Electrodiagnostic Findings to Molecular Mechanisms

Autor: Stefan Nicolau, Margherita Milone

Publikováno v: Frontiers in Neurology, Vol 10 (2019)

Congenital myasthenic syndromes (CMS) are a group of inherited disorders of neuromuscular transmission most commonly presenting with early onset fatigable weakness, ptosis, and ophthalmoparesis. CMS are classified according to the localization of the

Externí odkaz: https://doaj.org/article/a2ba6c8dfccc452e96b7b0f800f8eb93

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