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Authors
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Distal myopathy

Peer-reviewed
DOI
10.1016/B978-0-323-98818-6.00002-9
Savarese, Marco; Jokela, Manu; Udd, Bjarne;
Handbook of Clinical Neurology2023

Udd Distal Myopathy

Suominen T; Udd B; Hackman P
University of Washington2013

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

Peer-reviewed
Open access
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

Panorama of the distal myopathies

Peer-reviewed
Open access
DOI
10.36185/2532-1900-028
Savarese, Marco; Sarparanta, Jaakko; Vihola, Anna; Jonson, Per Harald; Johari, Mridul; Rusanen, Sall...
Acta myologica2020

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Peer-reviewed
Open access
DOI
10.1007/s00401-021-02319-x
Johari, Mridul; Sarparanta, Jaakko; Vihola, Anna; Jonson, Per Harald; Savarese, Marco; Jokela, Manu;...
Acta neuropathologica2021

Current advance on distal myopathy genetics

Peer-reviewed
Open access
DOI
10.1097/WCO.0000000000001299
Ranta-Aho, Johanna; Johari, Mridul; Udd, Bjarne
Current opinion in neurology2024

Udd Distal Myopathy - Tibial Muscular Dystrophy

Peer-reviewed
Open access
Udd B; Hackmann P
Genereviews2020

The distal myopathy with ANO5 mutation is very different from miyoshi myopathy

Ibrahim Mahjneh, Rumaisa Bashir, Sari Kiuru-Enari, Marianne De Visser, Wim Linssen
Neurology2011

Clinical utility gene card for: Laing distal myopathy

Lamont, Phillipa; Wallefeld, William; Davis, Mark; Udd, Bjarne; Laing, Nigel
European journal of human genetics2011

Laing early-onset distal myopathy in a Belgian family

Peer-reviewed
DOI
10.1007/s13760-014-0298-7
Van den Bergh, P. Y. K.; Martin, J. J.; Lecouvet, F.; Udd, B.; Schmedding, E.
Acta neurologica belgica2014

Distal myopathy

Peer-reviewed
DOI
10.1016/B978-0-323-98818-6.00002-9
2023

Udd Distal Myopathy

2013

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

Peer-reviewed
Open access
DOI
10.1016/j.nmd.2018.12.007
2019

Panorama of the distal myopathies

Peer-reviewed
Open access
DOI
10.36185/2532-1900-028
2020

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Peer-reviewed
Open access
DOI
10.1007/s00401-021-02319-x
2021

Current advance on distal myopathy genetics

Peer-reviewed
Open access
DOI
10.1097/WCO.0000000000001299
2024

Udd Distal Myopathy - Tibial Muscular Dystrophy

Peer-reviewed
Open access
2020

The distal myopathy with ANO5 mutation is very different from miyoshi myopathy

2011

Clinical utility gene card for: Laing distal myopathy

2011

Laing early-onset distal myopathy in a Belgian family

Peer-reviewed
DOI
10.1007/s13760-014-0298-7
2014