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Neurogenetics|October 25, 2014
The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseasesElena Sinkiewicz-Darol, Andressa Ferreira Lacerda, Anna Kostera-Pruszczyk, et al.
Journal of Muscle Research and Cell Motility|November 8, 2015
BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndromeAnna Kostera-Pruszczyk, Małgorzata Suszek, Rafał Płoski, et al.
Cardiovascular Research|December 11, 2023
Dysregulated iron homeostasis in dystrophin-deficient cardiomyocytes: correction by gene editing and pharmacological treatmentKalina Andrysiak, Gabriela Machaj, Dominik Priesmann, et al.
Muscle & Nerve|December 22, 2016
Abnormal spontaneous activity in primary myopathic disordersMonika Nojszewska, Malgorzata Gawel, Elzbieta Szmidt-Salkowska, et al.
Muscle & Nerve|May 28, 2014
Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvementAnna Kostera-Pruszczyk, Anna Potulska-Chromik, Piotr Pruszczyk, et al.
Orphanet Journal of Rare Diseases|August 4, 2023
Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experienceAnna Łusakowska, Adrianna Wójcik, Anna Frączek, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 3, 2021
Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophyMaria Jędrzejowska, Anna Potulska-Chromik, Monika Gos, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 23, 2016
Efficacy and safety of abobotulinumtoxinA liquid formulation in cervical dystonia: A randomized-controlled trialWerner Poewe, Pierre Burbaud, Giovanni Castelnovo, et al.
JCI Insight|June 5, 2020
Lack of miR-378 attenuates muscular dystrophy in mdx micePaulina Podkalicka, Olga Mucha, Iwona Bronisz-Budzyńska, et al.
Parkinsonism & Related Disorders|August 7, 2013
Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's diseaseDorota Hoffman-Zacharska, Dariusz Koziorowski, Owen A Ross, et al.
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