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Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo C, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Araújo Martins Moreno C, Ertl-Wagner B, Stucka R, De Goede C, Borges da Silva T, Hathazi D, Dell'Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J. Wiessner M, et al. Am J Hum Genet. 2017 Mar 2;100(3):523-536. doi: 10.1016/j.ajhg.2017.01.024. Epub 2017 Feb 9. Am J Hum Genet. 2017. PMID: 28190456 Free PMC article.
MRI in sarcoglycanopathies: a large international cohort study.
Tasca G, Monforte M, Díaz-Manera J, Brisca G, Semplicini C, D'Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, Løkken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlová J, Magnano G, Walter MC, Quijano-Roy S, Carlier RY, van Engelen BGM, Vissing J, Straub V, Bönnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C. Tasca G, et al. J Neurol Neurosurg Psychiatry. 2018 Jan;89(1):72-77. doi: 10.1136/jnnp-2017-316736. Epub 2017 Sep 9. J Neurol Neurosurg Psychiatry. 2018. PMID: 28889091
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.
Sarkozy A, Torelli S, Mein R, Henderson M, Phadke R, Feng L, Sewry C, Ala P, Yau M, Bertoli M, Willis T, Hammans S, Manzur A, Sframeli M, Norwood F, Rakowicz W, Radunovic A, Vaidya SS, Parton M, Walker M, Marino S, Offiah C, Farrugia ME, Mamutse G, Marini-Bettolo C, Wraige E, Beeson D, Lochmüller H, Straub V, Bushby K, Barresi R, Muntoni F. Sarkozy A, et al. J Neurol Neurosurg Psychiatry. 2018 Jul;89(7):762-768. doi: 10.1136/jnnp-2017-316956. Epub 2018 Feb 3. J Neurol Neurosurg Psychiatry. 2018. PMID: 29437916
Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study.
Aragon-Gawinska K, Seferian AM, Daron A, Gargaun E, Vuillerot C, Cances C, Ropars J, Chouchane M, Cuppen I, Hughes I, Illingworth M, Marini-Bettolo C, Rambaud J, Taytard J, Annoussamy M, Scoto M, Gidaro T, Servais L. Aragon-Gawinska K, et al. Neurology. 2018 Oct 2;91(14):e1312-e1318. doi: 10.1212/WNL.0000000000006281. Epub 2018 Aug 29. Neurology. 2018. PMID: 30158155 Clinical Trial.
Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen.
Aragon-Gawinska K, Daron A, Ulinici A, Vanden Brande L, Seferian A, Gidaro T, Scoto M, Deconinck N, Servais L; SMA-Registry Study Group. Aragon-Gawinska K, et al. Dev Med Child Neurol. 2020 Mar;62(3):310-314. doi: 10.1111/dmcn.14412. Epub 2019 Dec 4. Dev Med Child Neurol. 2020. PMID: 31799720 Free article.
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study.
Trucco F, Ridout D, Scoto M, Coratti G, Main ML, Muni Lofra R, Mayhew AG, Montes J, Pane M, Sansone V, Albamonte E, D'Amico A, Bertini E, Messina S, Bruno C, Parasuraman D, Childs AM, Gowda V, Willis T, Ong M, Marini-Bettolo C, De Vivo DC, Darras BT, Day J, Kichula EA, Mayer OH, Navas Nazario AA, Finkel RS, Mercuri E, Muntoni F; International SMA Consortium (iSMAc). Trucco F, et al. Neurology. 2021 Jan 26;96(4):e587-e599. doi: 10.1212/WNL.0000000000011051. Epub 2020 Oct 16. Neurology. 2021. PMID: 33067401 Free PMC article.
International retrospective natural history study of LMNA-related congenital muscular dystrophy.
Ben Yaou R, Yun P, Dabaj I, Norato G, Donkervoort S, Xiong H, Nascimento A, Maggi L, Sarkozy A, Monges S, Bertoli M, Komaki H, Mayer M, Mercuri E, Zanoteli E, Castiglioni C, Marini-Bettolo C, D'Amico A, Deconinck N, Desguerre I, Erazo-Torricelli R, Gurgel-Giannetti J, Ishiyama A, Kleinsteuber KS, Lagrue E, Laugel V, Mercier S, Messina S, Politano L, Ryan MM, Sabouraud P, Schara U, Siciliano G, Vercelli L, Voit T, Yoon G, Alvarez R, Muntoni F, Pierson TM, Gómez-Andrés D, Reghan Foley A, Quijano-Roy S, Bönnemann CG, Bonne G. Ben Yaou R, et al. Brain Commun. 2021 Apr 11;3(3):fcab075. doi: 10.1093/braincomms/fcab075. eCollection 2021 Jul. Brain Commun. 2021. PMID: 34240052 Free PMC article.
56 results