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Page 1
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmüller H. Senderek J, et al. Among authors: rodolico c. Am J Hum Genet. 2011 Feb 11;88(2):162-72. doi: 10.1016/j.ajhg.2011.01.008. Am J Hum Genet. 2011. PMID: 21310273 Free PMC article.
Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations.
Schara U, Christen HJ, Durmus H, Hietala M, Krabetz K, Rodolico C, Schreiber G, Topaloglu H, Talim B, Voss W, Pihko H, Abicht A, Müller JS, Lochmüller H. Schara U, et al. Among authors: rodolico c. Eur J Paediatr Neurol. 2010 Jul;14(4):326-33. doi: 10.1016/j.ejpn.2009.09.009. Epub 2009 Nov 8. Eur J Paediatr Neurol. 2010. PMID: 19900826
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H. Guergueltcheva V, et al. Among authors: rodolico c. J Neurol. 2012 May;259(5):838-50. doi: 10.1007/s00415-011-6262-z. Epub 2011 Oct 6. J Neurol. 2012. PMID: 21975507
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group. Schiava M, et al. Among authors: rodolico c. J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. doi: 10.1136/jnnp-2022-328921. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35896379 Free PMC article.
Italian recommendations for Lambert-Eaton myasthenic syndrome (LEMS) management.
Evoli A, Liguori R, Romani A, Mantegazza R, Di Muzio A, Giometto B, Pegoraro E, Rodolico C, Vigliani MC; Italian Working Group on Myasthenic Syndromes. Evoli A, et al. Among authors: rodolico c. Neurol Sci. 2014 Apr;35(4):515-20. doi: 10.1007/s10072-014-1637-4. Epub 2014 Jan 31. Neurol Sci. 2014. PMID: 24481713 Review.
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
Peretto G, Di Resta C, Perversi J, Forleo C, Maggi L, Politano L, Barison A, Previtali SC, Carboni N, Brun F, Pegoraro E, D'Amico A, Rodolico C, Magri F, Manzi RC, Palladino A, Isola F, Gigli L, Mongini TE, Semplicini C, Calore C, Ricci G, Comi GP, Ruggiero L, Bertini E, Bonomo P, Nigro G, Resta N, Emdin M, Favale S, Siciliano G, Santoro L, Sinagra G, Limongelli G, Ambrosi A, Ferrari M, Golzio PG, Bella PD, Benedetti S, Sala S; Italian Network for Laminopathies (NIL). Peretto G, et al. Among authors: rodolico c. Ann Intern Med. 2019 Oct 1;171(7):458-463. doi: 10.7326/M18-2768. Epub 2019 Sep 3. Ann Intern Med. 2019. PMID: 31476771
Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.
Esteller D, Schiava M, Verdú-Díaz J, Villar-Quiles RN, Dibowski B, Venturelli N, Laforet P, Alonso-Pérez J, Olive M, Domínguez-González C, Paradas C, Vélez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pál E, Malfatti E, Souvannanorath S, Alonso-Jiménez A, de Ridder W, De Smet E, Papadimas G, Papadopoulos C, Xirou S, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schoser B, Fernández-Torrón R, López de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Díaz J, Ikenaga C, Lloyd TE, Nishino I, Nishimori Y, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Sasaki R, Marini-Bettolo C, Guglieri M, Straub V, Stojkovic T, Carlier RY, Díaz-Manera J. Esteller D, et al. Among authors: rodolico c. J Neurol. 2024 Apr;271(4):2147-2148. doi: 10.1007/s00415-023-12178-z. J Neurol. 2024. PMID: 38349561 Free PMC article. No abstract available.
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy.
Bettio C, Banchelli F, Salsi V, Vicini R, Crisafulli O, Ruggiero L, Ricci G, Bucci E, Angelini C, Berardinelli A, Bonanno S, D'Angelo MG, Di Muzio A, Filosto M, Frezza E, Maggi L, Mongini T, Pegoraro E, Rodolico C, Scarlato M, Vattemi G, Velardo D, Tomelleri G, D'Amico R, D'Antona G, Tupler R. Bettio C, et al. Among authors: rodolico c. BMC Musculoskelet Disord. 2024 Jan 5;25(1):35. doi: 10.1186/s12891-023-07150-x. BMC Musculoskelet Disord. 2024. PMID: 38183077 Free PMC article.
150 results