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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

164 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Diagnostic challenges in metabolic myopathies.
Angelini C, Marozzo R, Pegoraro V, Sacconi S. Angelini C, et al. Among authors: sacconi s. Expert Rev Neurother. 2020 Dec;20(12):1287-1298. doi: 10.1080/14737175.2020.1825943. Epub 2020 Oct 4. Expert Rev Neurother. 2020. PMID: 32941087 Review.
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
Savarese M, Di Fruscio G, Tasca G, Ruggiero L, Janssens S, De Bleecker J, Delpech M, Musumeci O, Toscano A, Angelini C, Sacconi S, Santoro L, Ricci E, Claes K, Politano L, Nigro V. Savarese M, et al. Among authors: sacconi s. Neuromuscul Disord. 2015 Jul;25(7):533-41. doi: 10.1016/j.nmd.2015.03.011. Epub 2015 Mar 30. Neuromuscul Disord. 2015. PMID: 25891276 Free PMC article.
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.
Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, Ruggiero L, Ricci G, Astrea G, Passamano L, Ruggieri A, Ronchi D, Tasca G, D'Amico A, Janssens S, Farina O, Mutarelli M, Marwah VS, Garofalo A, Giugliano T, Sampaolo S, Del Vecchio Blanco F, Esposito G, Piluso G, D'Ambrosio P, Petillo R, Musumeci O, Rodolico C, Messina S, Evilä A, Hackman P, Filosto M, Di Iorio G, Siciliano G, Mora M, Maggi L, Minetti C, Sacconi S, Santoro L, Claes K, Vercelli L, Mongini T, Ricci E, Gualandi F, Tupler R, De Bleecker J, Udd B, Toscano A, Moggio M, Pegoraro E, Bertini E, Mercuri E, Angelini C, Santorelli FM, Politano L, Bruno C, Comi GP, Nigro V. Savarese M, et al. Among authors: sacconi s. Neurology. 2016 Jul 5;87(1):71-6. doi: 10.1212/WNL.0000000000002800. Epub 2016 Jun 8. Neurology. 2016. PMID: 27281536 Free PMC article.
EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia.
Kyriakides T, Angelini C, Schaefer J, Sacconi S, Siciliano G, Vilchez JJ, Hilton-Jones D; European Federation of Neurological Societies. Kyriakides T, et al. Among authors: sacconi s. Eur J Neurol. 2010 Jun 1;17(6):767-73. doi: 10.1111/j.1468-1331.2010.03012.x. Epub 2010 Apr 5. Eur J Neurol. 2010. PMID: 20402744
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.
Palmio J, Leonard-Louis S, Sacconi S, Savarese M, Penttilä S, Semmler AL, Kress W, Mozaffar T, Lai T, Stojkovic T, Berardo A, Reisin R, Attarian S, Urtizberea A, Cobo AM, Maggi L, Kurbatov S, Nikitin S, Milisenda JC, Fatehi F, Raimondi M, Silveira F, Hackman P, Claeys KG, Udd B. Palmio J, et al. Among authors: sacconi s. J Neurol. 2019 Mar;266(3):680-690. doi: 10.1007/s00415-019-09187-2. Epub 2019 Jan 21. J Neurol. 2019. PMID: 30666435 Free PMC article.
EFNS review on the role of muscle biopsy in the investigation of myalgia.
Kyriakides T, Angelini C, Schaefer J, Mongini T, Siciliano G, Sacconi S, Joseph J, Burgunder JM, Bindoff LA, Vissing J, de Visser M, Hilton-Jones D. Kyriakides T, et al. Among authors: sacconi s. Eur J Neurol. 2013 Jul;20(7):997-1005. doi: 10.1111/ene.12174. Epub 2013 Apr 30. Eur J Neurol. 2013. PMID: 23627674 Review.
Diagnostic challenges in facioscapulohumeral muscular dystrophy.
Sacconi S, Salviati L, Bourget I, Figarella D, Péréon Y, Lemmers R, van der Maarel S, Desnuelle C. Sacconi S, et al. Neurology. 2006 Oct 24;67(8):1464-6. doi: 10.1212/01.wnl.0000240071.62540.6f. Neurology. 2006. PMID: 17060574
Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy.
Gros M, Nunes AM, Daoudlarian D, Pini J, Martinuzzi E, Barbosa S, Ramirez M, Puma A, Villa L, Cavalli M, Grecu N, Garcia J, Siciliano G, Solé G, Juntas-Morales R, Jones PL, Jones T, Glaichenhaus N, Sacconi S. Gros M, et al. Among authors: sacconi s. J Neuromuscul Dis. 2022;9(1):83-93. doi: 10.3233/JND-210711. J Neuromuscul Dis. 2022. PMID: 34459413 Free PMC article.
164 results