Savarese M - Search Results

1

Genetic basis of limb-girdle muscular dystrophies: the 2014 update.

Nigro V, Savarese M. Nigro V, et al. Among authors: savarese m. Acta Myol. 2014 May;33(1):1-12. Acta Myol. 2014. PMID: 24843229 Free PMC article. Review.

2

Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders.

Piluso G, Dionisi M, Del Vecchio Blanco F, Torella A, Aurino S, Savarese M, Giugliano T, Bertini E, Terracciano A, Vainzof M, Criscuolo C, Politano L, Casali C, Santorelli FM, Nigro V. Piluso G, et al. Among authors: savarese m. Clin Chem. 2011 Nov;57(11):1584-96. doi: 10.1373/clinchem.2011.168898. Epub 2011 Sep 6. Clin Chem. 2011. PMID: 21896784

3

Use of a lower dosage liver-detargeted AAV vector to prevent hamster muscular dystrophy.

Rotundo IL, Lancioni A, Savarese M, D'Orsi L, Iacomino M, Nigro G, Piluso G, Auricchio A, Nigro V. Rotundo IL, et al. Among authors: savarese m. Hum Gene Ther. 2013 Apr;24(4):424-30. doi: 10.1089/hum.2012.121. Epub 2013 Apr 4. Hum Gene Ther. 2013. PMID: 23427808 Free PMC article.

4

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.

Torella A, Fanin M, Mutarelli M, Peterle E, Del Vecchio Blanco F, Rispoli R, Savarese M, Garofalo A, Piluso G, Morandi L, Ricci G, Siciliano G, Angelini C, Nigro V. Torella A, et al. Among authors: savarese m. PLoS One. 2013 May 7;8(5):e63536. doi: 10.1371/journal.pone.0063536. Print 2013. PLoS One. 2013. PMID: 23667635 Free PMC article.

5

Dominant muscular dystrophy with a novel SYNE1 gene mutation.

Fanin M, Savarese M, Nascimbeni AC, Di Fruscio G, Pastorello E, Tasca E, Trevisan CP, Nigro V, Angelini C. Fanin M, et al. Among authors: savarese m. Muscle Nerve. 2015 Jan;51(1):145-7. doi: 10.1002/mus.24357. Epub 2014 Nov 24. Muscle Nerve. 2015. PMID: 25091525 No abstract available.

6

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Savarese M, Di Fruscio G, Mutarelli M, Torella A, Magri F, Santorelli FM, Comi GP, Bruno C, Nigro V. Savarese M, et al. Acta Neuropathol Commun. 2014 Sep 11;2:100. doi: 10.1186/s40478-014-0100-3. Acta Neuropathol Commun. 2014. PMID: 25214167 Free PMC article.

7

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. 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.

8

Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?

Di Fruscio G, Garofalo A, Mutarelli M, Savarese M, Nigro V. Di Fruscio G, et al. Among authors: savarese m. Eur J Hum Genet. 2016 Jan;24(1):73-7. doi: 10.1038/ejhg.2015.76. Epub 2015 Apr 22. Eur J Hum Genet. 2016. PMID: 25898921 Free PMC article.

9

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G, Schulz A, De Cegli R, Savarese M, Mutarelli M, Parenti G, Banfi S, Braulke T, Nigro V, Ballabio A. Di Fruscio G, et al. Among authors: savarese m. Autophagy. 2015;11(6):928-38. doi: 10.1080/15548627.2015.1043077. Autophagy. 2015. PMID: 26075876 Free PMC article.

10

Next generation sequencing detection of late onset pompe disease.

Angelini C, Savarese M, Fanin M, Nigro V. Angelini C, et al. Among authors: savarese m. Muscle Nerve. 2016 Jun;53(6):981-3. doi: 10.1002/mus.25042. Epub 2016 Apr 25. Muscle Nerve. 2016. PMID: 26800218

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

Search Page

Search Results