NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like EncephalomyopathyDorota Piekutowska‐Abramczuk, Johannes A. Mayr, Zahra Assouline et al.|The American Journal of Human Genetics|2018Cited by 66
Mosaic <i>IL6ST</i> variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphyAnna Materna‐Kiryluk, Rafał Płoski, Tomasz M. Grzywa et al.|Human Molecular Genetics|2021Cited by 26
The remarkable phenotypic variability of the p.Arg269HiS variant in the <i>TRPV4</i> geneMaria Jędrzejowska, Monika Goś, Emilia Dębek et al.|Muscle & Nerve|2018Cited by 14
A <i>de novo</i> loss‐of‐function <i>DYNC1H1</i> mutation in a patient with parkinsonian features and a favourable response to levodopaKrzysztof Szczałuba, Rafał Płoski, Krystyna Szymańska et al.|Clinical Genetics|2017Cited by 5
Broad clinical spectrum observed in patients with scapuloperoneal spinal muscular atrophy (SPSMA) caused by an c.806G > A (p. Arg269His) mutation in the TRPV4 geneMaria Jędrzejowska, Monika Goś, Elżbieta Ciara et al.|Neuromuscular Disorders|2017Cited by 0