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Neuromuscular Disorders : NMD|February 11, 2014
Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathyGülsenay Citirak, Nanna Witting, Morten Duno, et al.
Genes|June 24, 2022
High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1Astrid Rasmussen, Mathis Hildonen, John Vissing, et al.
Brain : a Journal of Neurology|October 21, 2017
The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized studyGrete Andersen, Gitte Hedermann, Nanna Witting, et al.
JIMD Reports|November 7, 2022
β-Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophyJonas Jalili Pedersen, Morten Duno, Flemming Wibrand, et al.
Clinical Case Reports|December 12, 2017
Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case studyTina Dysgaard Jeppesen, Noor Al-Hashimi, Morten Duno, et al.
BMC Musculoskeletal Disorders|March 27, 2012
Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophiesSimon Hauerslev, Marie-Louise Sveen, Morten Duno, et al.
BMC Musculoskeletal Disorders|October 21, 2017
Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case reportPatrick Soldath, Karen Lindhardt Madsen, Astrid Emilie Buch, et al.
Ophthalmic Genetics|February 1, 2017
Leber hereditary optic neuropathy due to a new ND1 mutationPatrick Soldath, Marianne Wegener, Birgit Sander, et al.
JIMD Reports|June 26, 2015
Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 MutationJabin Rafiq, Morten Duno, Elsebet Østergaard, et al.
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