Marijke Van Ghelue

A heterozygous 21-bp deletion in<i>CAPN3</i>causes dominantly inherited limb girdle muscular dystrophy

John Vissing, Rita Barresi, Nanna Witting et al. · Brain · 2016 · 104 citations · Full text

Mechanobiology, Rare Diseases, Calpain 3 +15

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

Chen Sun, Lisbeth Tranebjærg, T. Torbergsen et al. · European Journal of Human Genetics · 2001 · 102 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +6

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

Sophie Nicole, Amina Chaouch, T. Torbergsen et al. · Brain · 2014 · 100 citations · Full text

Distal Muscle Weakness, Muscle Function, Agrin Mutations +18

BK and JC Viruses in Patients with Systemic Lupus Erythematosus: Prevalent and Persistent BK Viruria, Sequence Stability of the Viral Regulatory Regions, and Nondetectable Viremia

Arnfinn Sundsfjord, Awuku Osei, Hanne Rosenqvist et al. · The Journal of Infectious Diseases · 1999 · 100 citations

A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness–dystonia–optic atrophy syndrome

Lisbeth Tranebjærg, Ben C.J. Hamel, F.J.M. Gabreëls et al. · European Journal of Human Genetics · 2000 · 82 citations · Full text

Neurodegenerative Diseases, Mendelian Disorder, Genetic Disorder +9