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European Journal of Human Genetics : EJHG
|
December 24, 2025
A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy
John Vissing, Ana Töpf, Volker Straub, et al.
Human Mutation
|
January 18, 2007
Deletion of exon 16 of the dystrophin gene is not associated with disease
Marianne Schwartz, Morten Dunø, Anne Lise Palle, et al.
BMC Neurology
|
October 24, 2019
Palbociclib in combination with simvastatin induce severe rhabdomyolysis: a case report
Vardan Nersesjan, Klaus Hansen, Thomas Krag, et al.
Clinical Neurology and Neurosurgery
|
November 30, 2018
Expanding the phenotype of filamin-C-related myofibrillar myopathy
Josefine de Stricker Borch, Anne-Sofie Vibæk Eisum, Thomas Krag, et al.
Human Mutation
|
June 24, 2021
Myopathy can be a key phenotype of membrin (GOSR2) deficiency
Mads G Stemmerik, Josefine de S Borch, Morten Dunø, 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 atrophy
Jonas Jalili Pedersen, Morten Duno, Flemming Wibrand, et al.
Journal of Neuropathology and Experimental Neurology
|
September 21, 2020
Vacuoles, Often Containing Glycogen, Are a Consistent Finding in Hypokalemic Periodic Paralysis
Sonja Holm-Yildiz, Thomas Krag, Nanna Witting, et al.
Neuromuscular Disorders : NMD
|
June 13, 2024
Quality of life in hypokalemic periodic paralysis - a survey
Sonja Holm-Yildiz, Thomas Krag, Tina Dysgaard, et al.
Neuromuscular Disorders : NMD
|
April 9, 2008
Phenotype and clinical course in a family with a new de novo Twinkle gene mutation
Tina D Jeppesen, Marianne Schwartz, Eskild Colding-Jørgensen, et al.
Journal of Neurology
|
May 15, 2013
Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression
Nanna Witting, Morten Duno, Helle Petri, et al.
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of 5
Search research articles
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Showing results (1-10 of 43) with videos related to
Sort By:
Page
of 5
European Journal of Human Genetics : EJHG
|
December 24, 2025
A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy
John Vissing, Ana Töpf, Volker Straub, et al.
Human Mutation
|
January 18, 2007
Deletion of exon 16 of the dystrophin gene is not associated with disease
Marianne Schwartz, Morten Dunø, Anne Lise Palle, et al.
BMC Neurology
|
October 24, 2019
Palbociclib in combination with simvastatin induce severe rhabdomyolysis: a case report
Vardan Nersesjan, Klaus Hansen, Thomas Krag, et al.
Clinical Neurology and Neurosurgery
|
November 30, 2018
Expanding the phenotype of filamin-C-related myofibrillar myopathy
Josefine de Stricker Borch, Anne-Sofie Vibæk Eisum, Thomas Krag, et al.
Human Mutation
|
June 24, 2021
Myopathy can be a key phenotype of membrin (GOSR2) deficiency
Mads G Stemmerik, Josefine de S Borch, Morten Dunø, 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 atrophy
Jonas Jalili Pedersen, Morten Duno, Flemming Wibrand, et al.
Journal of Neuropathology and Experimental Neurology
|
September 21, 2020
Vacuoles, Often Containing Glycogen, Are a Consistent Finding in Hypokalemic Periodic Paralysis
Sonja Holm-Yildiz, Thomas Krag, Nanna Witting, et al.
Neuromuscular Disorders : NMD
|
June 13, 2024
Quality of life in hypokalemic periodic paralysis - a survey
Sonja Holm-Yildiz, Thomas Krag, Tina Dysgaard, et al.
Neuromuscular Disorders : NMD
|
April 9, 2008
Phenotype and clinical course in a family with a new de novo Twinkle gene mutation
Tina D Jeppesen, Marianne Schwartz, Eskild Colding-Jørgensen, et al.
Journal of Neurology
|
May 15, 2013
Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression
Nanna Witting, Morten Duno, Helle Petri, et al.
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of 5