Marta Jurek

Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease

Dorota Hoffman‐Zacharska, Dariusz Koziorowski, Owen A. Ross et al. · Parkinsonism & Related Disorders · 2013 · 84 citations · Full text

Neurodegenerative Diseases, Neurobiology Of Disease, Biochemistry +11

Unaffected patients with a homozygous absence of the SMN1 gene

Maria Jędrzejowska, Janina Borkowska, Janusz Zimowski et al. · European Journal of Human Genetics · 2008 · 60 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +7

Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease.

Maria Jędrzejowska, Michał Milewski, Janusz Zimowski et al. · Acta Biochimica Polonica · 2009 · 50 citations · Full text

Mendelian Disorder, Naip Gene, Genetic Disorder +13

Novel mutation of <i>IL1RAPL1</i> gene in a nonspecific X‐linked mental retardation (MRX) family

Magdalena Nawara, Jakub Klapecki, Katarzyna Borg et al. · American Journal of Medical Genetics Part A · 2008 · 46 citations

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

Wojciech Wiszniewski, Paweł Gawliński, Tomasz Gambin et al. · European Journal of Human Genetics · 2018 · 42 citations · Full text

Corticobasal Degeneration, Cerebral Cortical Development, Genetics +11