Neri M - Search Results

1

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.

Harris E, Burki U, Marini-Bettolo C, Neri M, Scotton C, Hudson J, Bertoli M, Evangelista T, Vroling B, Polvikoski T, Roberts M, Töpf A, Bushby K, McArthur D, Lochmüller H, Ferlini A, Straub V, Barresi R. Harris E, et al. Among authors: neri m. Neuromuscul Disord. 2017 Sep;27(9):861-872. doi: 10.1016/j.nmd.2017.05.002. Epub 2017 May 4. Neuromuscul Disord. 2017. PMID: 28624464

2

Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human.

Neri M, Torelli S, Brown S, Ugo I, Sabatelli P, Merlini L, Spitali P, Rimessi P, Gualandi F, Sewry C, Ferlini A, Muntoni F. Neri M, et al. Neuromuscul Disord. 2007 Dec;17(11-12):913-8. doi: 10.1016/j.nmd.2007.07.005. Epub 2007 Sep 7. Neuromuscul Disord. 2007. PMID: 17826093

3

Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.

Martoni E, Urciuolo A, Sabatelli P, Fabris M, Bovolenta M, Neri M, Grumati P, D'Amico A, Pane M, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A, Gualandi F. Martoni E, et al. Among authors: neri m. Hum Mutat. 2009 May;30(5):E662-72. doi: 10.1002/humu.21022. Hum Mutat. 2009. PMID: 19309692

4

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies.

Bovolenta M, Neri M, Martoni E, Urciuolo A, Sabatelli P, Fabris M, Grumati P, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A, Gualandi F. Bovolenta M, et al. Among authors: neri m. BMC Med Genet. 2010 Mar 19;11:44. doi: 10.1186/1471-2350-11-44. BMC Med Genet. 2010. PMID: 20302629 Free PMC article.

5

LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.

Sensi A, Ceruti S, Trevisi P, Gualandi F, Busi M, Donati I, Neri M, Ferlini A, Martini A. Sensi A, et al. Among authors: neri m. Am J Med Genet A. 2011 May;155A(5):1096-101. doi: 10.1002/ajmg.a.33962. Epub 2011 Apr 7. Am J Med Genet A. 2011. PMID: 21480479

6

The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy.

Neri M, Valli E, Alfano G, Bovolenta M, Spitali P, Rapezzi C, Muntoni F, Banfi S, Perini G, Gualandi F, Ferlini A. Neri M, et al. BMC Med Genet. 2012 Mar 28;13:20. doi: 10.1186/1471-2350-13-20. BMC Med Genet. 2012. PMID: 22455600 Free PMC article.

7

The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms.

Bovolenta M, Erriquez D, Valli E, Brioschi S, Scotton C, Neri M, Falzarano MS, Gherardi S, Fabris M, Rimessi P, Gualandi F, Perini G, Ferlini A. Bovolenta M, et al. Among authors: neri m. PLoS One. 2012;7(9):e45328. doi: 10.1371/journal.pone.0045328. Epub 2012 Sep 21. PLoS One. 2012. PMID: 23028937 Free PMC article.

8

The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice.

Ferlini A, Neri M, Gualandi F. Ferlini A, et al. Among authors: neri m. Neuromuscul Disord. 2013 Jan;23(1):4-14. doi: 10.1016/j.nmd.2012.09.002. Epub 2012 Oct 30. Neuromuscul Disord. 2013. PMID: 23116935 Review.

9

A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation.

Neri M, Selvatici R, Scotton C, Trabanelli C, Armaroli A, De Grandis D, Levy N, Gualandi F, Ferlini A. Neri M, et al. Neuromuscul Disord. 2013 Jun;23(6):478-82. doi: 10.1016/j.nmd.2013.02.003. Epub 2013 Mar 28. Neuromuscul Disord. 2013. PMID: 23541687

10

SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers.

Guglielmi V, Vattemi G, Gualandi F, Voermans NC, Marini M, Scotton C, Pegoraro E, Oosterhof A, Kósa M, Zádor E, Valente EM, De Grandis D, Neri M, Codemo V, Novelli A, van Kuppevelt TH, Dallapiccola B, van Engelen BG, Ferlini A, Tomelleri G. Guglielmi V, et al. Among authors: neri m. Mol Genet Metab. 2013 Sep-Oct;110(1-2):162-9. doi: 10.1016/j.ymgme.2013.07.015. Epub 2013 Jul 20. Mol Genet Metab. 2013. PMID: 23911890

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

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

912 results

Search Page

Filters