Search Results - "Rusanen, Salla"

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene by Hackman, Peter, Rusanen, Salla M, Johari, Mridul, Vihola, Anna, Jonson, Per Harald, Sarparanta, Jaakko, Donner, Kati, Lahermo, Päivi, Koivunen, Sampo, Luque, Helena, Soininen, Merja, Mahjneh, Ibrahim, Auranen, Mari, Arumilli, Meharji, Savarese, Marco, Udd, Bjarne

“…To determine the genetic cause of the disease in the previously reported family with adult-onset autosomal dominant distal myopathy (myopathy, distal, 3;…”
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Adult‐onset dominant muscular dystrophy in Greek families caused by Annexin A11 by Johari, Mridul, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sophia, Kanavaki, Aikaterini, Chrysanthou‐Piterou, Margarita, Rusanen, Salla, Savarese, Marco, Hackman, Peter, Udd, Bjarne

“…Objective Mutations in the prion‐like domain of RNA binding proteins cause dysfunctional stress responses and associated aggregate pathology in patients with…”
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Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia by Reilly, Madeline Louise, Ain, Noor ul, Muurinen, Mari, Tata, Alice, Huber, Céline, Simon, Marleen, Ishaq, Tayyaba, Shaw, Nick, Rusanen, Salla, Pekkinen, Minna, Högler, Wolfgang, Knapen, Maarten F. C. M., Born, Myrthe, Saunier, Sophie, Naz, Sadaf, Cormier‐Daire, Valérie, Benmerah, Alexandre, Makitie, Outi

“…ABSTRACT Skeletal dysplasias comprise a large spectrum of mostly monogenic disorders affecting bone growth, patterning, and homeostasis, and ranging in…”
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Panorama of the distal myopathies by Savarese, Marco, Sarparanta, Jaakko, Vihola, Anna, Jonson, Per Harald, Johari, Mridul, Rusanen, Salla, Hackman, Peter, Udd, Bjarne

“…Distal myopathies are genetic primary muscle disorders with a prominent weakness at onset in hands and/or feet. The age of onset (from early childhood to…”
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