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Human Genomics|July 5, 2018
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patientsJakub Piotr Fichna, Anna Macias, Marcin Piechota, et al.Folia Neuropathologica|April 15, 2014
Clinical and neuroimaging correlation of movement disorders in multiple sclerosis: case series and review of the literatureAnna Potulska-Chromik, Monika Rudzinska, Monika Nojszewska, et al.Journal of Applied Genetics|April 3, 2015
Genomic instability in the PARK2 locus is associated with Parkinson's diseaseWojciech Ambroziak, Dariusz Koziorowski, Kinga Duszyc, et al.Postepy Psychiatrii Neurologii|August 9, 2024
Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophyWiktoria Radziwonik-Frączyk, Ewelina Elert-Dobkowska, Jolanta Kubalska, et al.Acta Neurologica Scandinavica|May 25, 2019
Screening for late-onset Pompe disease in PolandAleksandra Jastrzębska, Anna Potulska-Chromik, Anna Łusakowska, et al.BMC Research Notes|November 1, 2013
Long lasting dysautonomia due to botulinum toxin B poisoning: clinical-laboratory follow up and difficulties in initial diagnosisAnna Potulska-Chromik, Beata Zakrzewska-Pniewska, Elżbieta Szmidt-Sałkowska, et al.BBA Clinical|December 2, 2016
A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structureJakub P Fichna, Anna Potulska-Chromik, Przemysław Miszta, et al.Neurogenetics|March 3, 2011
A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C diseaseDagmara Kabzińska, Axel Niemann, Hanna Drac, et al.Journal of Mother and Child|June 29, 2026
King-Denborough Syndrome-Dysmorphic Features Suggesting Risk of Malignant HyperthermiaPiotr Nowakowski, Karolina Czeczko, Anna Potulska-Chromik, et al.Neuroradiology|November 8, 2024
Real-time measurement of radiation exposure in interventional radiologists during CT-guided intrathecal injections of nusinersenGrzegorz Rosiak, Jakub Franke, Krzysztof Milczarek, et al.Pageof 5