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Recent advances in nemaline myopathy

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DOI
10.1016/j.nmd.2021.07.012
Laitila, Jenni; Wallgren-Pettersson, Carina
Neuromuscular Disorders2021Publicationer information ikon

Respiratory muscle function in patients with nemaline myopathy

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DOI
10.1016/j.nmd.2022.06.009
van Kleef, Esmee S.B.; van Doorn, Jeroen L.M.; Gaytant, Michael A.; de Weerd, Willemien; Vosse, Bett...
Neuromuscular Disorders2022Publicationer information ikon

Nemaline Myopathy in Brazilian Patients:Molecular and Clinical Characterization

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DOI
10.3390/ijms231911995
Gurgel-Giannetti, Juliana; Souza, Lucas Santos; Yamamoto, Guilherme L.; Belisario, Marina; Lazar, Mo...
International Journal of Molecular Sciences2022Publicationer information ikon

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene

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DOI
10.1016/j.nmd.2018.12.007
Kiiski, Kirsi J.; Lehtokari, Vilma-Lotta; Vihola, Anna K.; Laitila, Jenni M.; Huovinen, Sanna; Sagat...
Neuromuscular disorders2019Publicationer information ikon

Distal myopathy

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DOI
10.1016/B978-0-323-98818-6.00002-9
Savarese, Marco; Jokela, Manu; Udd, Bjarne;
Handbook of Clinical Neurology2023Publicationer information ikon

Salih Myopathy

Udd B
University of Washington2013Publicationer information ikon

Salih Myopathy

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Carmignac Virginie; Suominen Tiina; Hackman Peter; Udd Bjarne; Salih Mustafa A
University of Washington, Seattle2012Publicationer information ikon

Udd Distal Myopathy

Suominen T; Udd B; Hackman P
University of Washington2013Publicationer information ikon

Hereditary myopathy with early respiratory failure (HMERF): still rare, but common enough

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DOI
10.1016/j.nmd.2017.12.002
Giorgio, Tasca;Tasca, G;Udd, BjarneUdd, Bjarne
Neuromuscular disorders2018Publicationer information ikon

A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation

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DOI
10.1016/j.nmd.2020.11.014
Rocha, Maria L.; Dittmayer, Carsten; Uruha, Akinori; Korinth, Dirk; Chaoui, Rabih; Schlembach, Dietm...
Neuromuscular Disorders2021

Recent advances in nemaline myopathy

Referentgranskad
Öppen tillgång
DOI
10.1016/j.nmd.2021.07.012
2021

Respiratory muscle function in patients with nemaline myopathy

Referentgranskad
Öppen tillgång
DOI
10.1016/j.nmd.2022.06.009
2022

Nemaline Myopathy in Brazilian Patients:Molecular and Clinical Characterization

Referentgranskad
Öppen tillgång
DOI
10.3390/ijms231911995
2022

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene

Referentgranskad
Öppen tillgång
DOI
10.1016/j.nmd.2018.12.007
2019

Distal myopathy

Referentgranskad
DOI
10.1016/B978-0-323-98818-6.00002-9
2023

Salih Myopathy

2013

Salih Myopathy

Referentgranskad
Öppen tillgång
2012

Udd Distal Myopathy

2013

Hereditary myopathy with early respiratory failure (HMERF): still rare, but common enough

Referentgranskad
Öppen tillgång
DOI
10.1016/j.nmd.2017.12.002
2018

A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation

Referentgranskad
DOI
10.1016/j.nmd.2020.11.014
2021