Marta Owczarek‐Lipska

A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony

Inge D. Wijnberg, Marta Owczarek‐Lipska, Roberta Sacchetto et al. · Neuromuscular Disorders · 2011 · 46 citations

Skeletal Muscle, Genetic Disorder, Congenital Myotonia +6

A COL11A2 Mutation in Labrador Retrievers with Mild Disproportionate Dwarfism

Mirjam Frischknecht, Helena Niehof-Oellers, Vidhya Jagannathan et al. · PLoS ONE · 2013 · 46 citations · Full text

Developmental Anomaly, Mild Form, Col11a2 Mutation +14

A Frameshift Mutation in the Cubilin Gene (CUBN) in Border Collies with Imerslund-Gräsbeck Syndrome (Selective Cobalamin Malabsorption)

Marta Owczarek‐Lipska, Vidhya Jagannathan, Cord Drögemüller et al. · PLoS ONE · 2013 · 43 citations · Full text

Genetics, Imerslund-gräsbeck Syndrome, Genetic Epidemiology +17

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes

Marjo K. Hytönen, Meharji Arumilli, Anu K. Lappalainen et al. · PLoS Genetics · 2016 · 42 citations · Full text

Many Such Syndromes, Genetics, Genetic Epidemiology +23

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Élodie M. Richard, Somayeh Bakhtiari, Ashley P.L. Marsh et al. · The American Journal of Human Genetics · 2021 · 40 citations · Full text

Allelic Variant, Translational Biology, Genetic Disorder +10