Displaying results 1 - 10 / 829
results / page
What publication information is included in the service?
Publication name
Authors
Publication channel
Year

DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy

Peer-reviewed
Mahjneh, Ibrahim; Lochmüller, Hanns; Muntoni, Francesco; Abicht, Angela
Neuromuscular disorders2013

DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy

Peer-reviewed
DOI
10.1016/j.nmd.2012.06.355
Mahjneh, Ibrahim; Lochmüller, Hanns; Muntoni, Francesco; Abicht, Angela
Neuromuscular disorders2013

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

Peer-reviewed
Open access
DOI
10.1007/s00415-019-09307-y
Jokela, Manu; Lehtinen, Sara; Palmio, Johanna; Saukkonen, Anna-Maija; Huovinen, Sanna; Vihola, Anna;...
Journal of neurology2019

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

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

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

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

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

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

Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy

Peer-reviewed
Open access
DOI
10.1111/nan.12410
Vihola, A.; Luque, H.; Savarese, M.; Penttilä, S.; Lindfors, M.; Leturcq, F.; Eymard, B.; Tasca, G.;...
Neuropathology and applied neurobiology2018

A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair

Peer-reviewed
DOI
10.1016/j.nmd.2018.04.012
Strang-Karlsson, Sonja; Johnson, Katherine; Töpf, Ana; Xu, Liwen; Lek, Monkol; MacArthur, Daniel G.;...
Neuromuscular disorders2018

Udd Distal Myopathy - Tibial Muscular Dystrophy

Peer-reviewed
Open access
Udd B; Hackmann P
Genereviews2020

Whole-body muscle MRI characteristics of LAMA2-related congenital muscular dystrophy children: An emerging pattern

Peer-reviewed
DOI
10.1016/j.nmd.2021.06.012
Sakr, Hossam M.; Fahmy, Nagia; Elsayed, Nermine S.; Abdulhady, Hala; El-Sobky, Tamer A.; Saadawy, Am...
Neuromuscular disorders2021

DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy

Peer-reviewed
2013

DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy

Peer-reviewed
DOI
10.1016/j.nmd.2012.06.355
2013

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

Peer-reviewed
Open access
DOI
10.1007/s00415-019-09307-y
2019

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

Peer-reviewed
DOI
10.1016/j.nmd.2017.04.006
2017

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

Peer-reviewed
DOI
10.1111/ene.15688
2023

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

Peer-reviewed
DOI
10.1016/j.nmd.2017.06.013
2017

Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy

Peer-reviewed
Open access
DOI
10.1111/nan.12410
2018

A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair

Peer-reviewed
DOI
10.1016/j.nmd.2018.04.012
2018

Udd Distal Myopathy - Tibial Muscular Dystrophy

Peer-reviewed
Open access
2020

Whole-body muscle MRI characteristics of LAMA2-related congenital muscular dystrophy children: An emerging pattern

Peer-reviewed
DOI
10.1016/j.nmd.2021.06.012
2021