Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

156 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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.
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
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
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
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.
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.
Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.
Strafella C, Megalizzi D, Trastulli G, Proietti Piorgo E, Colantoni L, Tasca G, Monforte M, Zampatti S, Primiano G, Sancricca C, Bortolani S, Torchia E, Ravera B, Torri F, Gadaleta G, Risi B, Caria F, Gerardi F, Carraro E, Gioiosa V, Garibaldi M, Tufano L, Frezza E, Massa R, Caltagirone C, Pennisi EM, Petrucci A, Pane M, Frongia A, Gragnani F, Scutifero M, Mandich P, Grandis M, Maioli MA, Casali C, Manfroi E, Politano L, Passamano L, Petillo R, Rodolico C, Pugliese A, Previtali SC, Sansone V, Vercelli L, Mongini TE, Ricci G, Siciliano G, Filosto M, Ricci E, Cascella R, Giardina E; FSHD Italian Clinical Group. Strafella C, et al. Among authors: rodolico c. Clin Epigenetics. 2024 Oct 22;16(1):148. doi: 10.1186/s13148-024-01747-2. Clin Epigenetics. 2024. PMID: 39438900 Free PMC article.
156 results