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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 Disorders2022

Recent advances in nemaline myopathy

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DOI
10.1016/j.nmd.2021.07.012
Laitila, Jenni; Wallgren-Pettersson, Carina
Neuromuscular Disorders2021

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 Sciences2022

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 disorders2019

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

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy

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Avoin saatavuus
DOI
10.1186/s40478-022-01491-9
Ranu, Natasha; Laitila, Jenni; Dugdale, Hannah F.; Mariano, Jennifer; Kolb, Justin S.; Wallgren-Pett...
Acta neuropathologica communications2022

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies

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DOI
10.1111/ene.13607
Nilipour, Y.; Nafissi, S.; Tjust, A. E.; Ravenscroft, G.; Nedai, H. Hossein Nejad; Taylor, R. L.; Va...
European journal of neurology2018

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

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DOI
10.1007/s00401-019-02034-8
Ross, Jacob A.; Levy, Yotam; Ripolone, Michela; Kolb, Justin S.; Turmaine, Mark; Holt, Mark; Lindqvi...
Acta Neuropathologica2019

Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene

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Avoin saatavuus
DOI
10.1016/j.nmd.2017.12.009
Lehtokari, Vilma-Lotta; Gardberg, Maria; Pelin, Katarina; Wallgren-Pettersson, Carina
Neuromuscular disorders2018

Clinical utility gene card for: Nemaline myopathy

DOI
10.1038/ejhg.2012.70
Nowak, Kristen J.; Davis, Mark R.; Wallgren-Pettersson, Carina; Lamont, Phillipa J.; Laing, Nigel G.
European journal of human genetics2012

Respiratory muscle function in patients with nemaline myopathy

Vertaisarvioitu
Avoin saatavuus
DOI
10.1016/j.nmd.2022.06.009
2022

Recent advances in nemaline myopathy

Vertaisarvioitu
Avoin saatavuus
DOI
10.1016/j.nmd.2021.07.012
2021

Nemaline Myopathy in Brazilian Patients:Molecular and Clinical Characterization

Vertaisarvioitu
Avoin saatavuus
DOI
10.3390/ijms231911995
2022

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

Vertaisarvioitu
Avoin saatavuus
DOI
10.1016/j.nmd.2018.12.007
2019

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

Vertaisarvioitu
DOI
10.1016/j.nmd.2020.11.014
2021

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy

Vertaisarvioitu
Avoin saatavuus
DOI
10.1186/s40478-022-01491-9
2022

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies

Vertaisarvioitu
Avoin saatavuus
DOI
10.1111/ene.13607
2018

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

Vertaisarvioitu
Avoin saatavuus
DOI
10.1007/s00401-019-02034-8
2019

Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene

Vertaisarvioitu
Avoin saatavuus
DOI
10.1016/j.nmd.2017.12.009
2018

Clinical utility gene card for: Nemaline myopathy

DOI
10.1038/ejhg.2012.70
2012