Näytetään tulokset 1 - 10 / 281
tulosta / sivu
Mitä julkaisutietoja palvelu sisältää?
Julkaisun nimi
Tekijät
Julkaisukanava
Vuosi

Diminution in sperm quantity and quality in mouse models of Duchenne Muscular Dystrophy induced by a myostatin-based muscle growth-promoting intervention

Vertaisarvioitu
Avoin saatavuus
DOI
10.4081/ejtm.2020.8904
Vaughan, Danielle; Kretz, Oliver; Alqallaf, Ali; Mitchell, Robert; von der Heide, Jennie L.; Vaiyapu...
European Journal of Translational Myology2020

Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy

Vertaisarvioitu
DOI
10.1002/humu.24343
Waldrop, Megan A.; Moore, Steven A.; Mathews, Katherine D.; Darbro, Benjamin W.; Medne, Livja; Finke...
Human mutation2022

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

Vertaisarvioitu
Avoin saatavuus
DOI
10.1007/s00415-019-09307-y
Jokela, Manu; Lehtinen, Sara; Palmio, Johanna; Saukkonen, Anna-Maija; Huovinen, Sanna; Vihola, Anna;...
Journal of neurology2019

Proteomics profiling of urine reveals specific titin fragments as biomarkers of Duchenne muscular dystrophy.

Vertaisarvioitu
DOI
10.1016/j.nmd.2014.03.012
Rouillon, Jeremy; Zocevic, Aleksandar; Leger, Thibaut; Garcia, Camille; Camadro, Jean-Michel; Udd, B...
Neuromuscular disorders2014

Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations

Vertaisarvioitu
Avoin saatavuus
DOI
10.1016/j.nmd.2017.04.006
Balcin, Hasan;Palmio, Johanna;Penttilä, Sini;Nennesmo, Inger;Lindfors, Mikaela;Solders, Göran;Udd, B...
Neuromuscular disorders2017

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

Vertaisarvioitu
DOI
10.1002/humu.22758
Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamov...
human mutation2015

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

Vertaisarvioitu
Bladen CL; Rafferty K; Straub V; Monges S; Moresco A; Dawkins H; Roy A; Chamova T; Guergueltcheva V;...
Human Mutation2013

Long-term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy

Vertaisarvioitu
DOI
10.1111/ene.15688
Lillback, Victoria; Savarese, Marco; Sandholm, Niina; Hackman, Peter; Udd, Bjarne;
European journal of neurology2023

Clinical Outcomes in Duchenne Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

Vertaisarvioitu
Koeks Z; Bladen CL; Salgado D; et al.; Lähdetie J
Journal of Neuromuscular Diseases2017

A 'second truncation' in TTN causes early onset recessive muscular dystrophy

Vertaisarvioitu
Avoin saatavuus
DOI
10.1016/j.nmd.2017.06.013
Harris, Elizabeth; Töpf, Ana; Vihola, Anna; Evilä, Anni; Barresi, Rita; Hudson, Judith; Hackman, Pet...
Neuromuscular disorders2017

Diminution in sperm quantity and quality in mouse models of Duchenne Muscular Dystrophy induced by a myostatin-based muscle growth-promoting intervention

Vertaisarvioitu
Avoin saatavuus
DOI
10.4081/ejtm.2020.8904
2020

Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy

Vertaisarvioitu
DOI
10.1002/humu.24343
2022

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

Vertaisarvioitu
Avoin saatavuus
DOI
10.1007/s00415-019-09307-y
2019

Proteomics profiling of urine reveals specific titin fragments as biomarkers of Duchenne muscular dystrophy.

Vertaisarvioitu
DOI
10.1016/j.nmd.2014.03.012
2014

Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations

Vertaisarvioitu
Avoin saatavuus
DOI
10.1016/j.nmd.2017.04.006
2017

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

Vertaisarvioitu
DOI
10.1002/humu.22758
2015

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

Vertaisarvioitu
2013

Long-term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy

Vertaisarvioitu
DOI
10.1111/ene.15688
2023

Clinical Outcomes in Duchenne Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

Vertaisarvioitu
2017

A 'second truncation' in TTN causes early onset recessive muscular dystrophy

Vertaisarvioitu
Avoin saatavuus
DOI
10.1016/j.nmd.2017.06.013
2017