Ferlini A - Search Results

1

New CACNA1A deletions are associated to migraine phenotypes.

Grieco GS, Gagliardi S, Ricca I, Pansarasa O, Neri M, Gualandi F, Nappi G, Ferlini A, Cereda C. Grieco GS, et al. Among authors: ferlini a. J Headache Pain. 2018 Aug 30;19(1):75. doi: 10.1186/s10194-018-0891-x. J Headache Pain. 2018. PMID: 30167989 Free PMC article.

2

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

Vacca M, Filippini F, Budillon A, Rossi V, Mercadante G, Manzati E, Gualandi F, Bigoni S, Trabanelli C, Pini G, Calzolari E, Ferlini A, Meloni I, Hayek G, Zappella M, Renieri A, D'Urso M, D'Esposito M, MacDonald F, Kerr A, Dhanjal S, Hultén M. Vacca M, et al. Among authors: ferlini a. J Mol Med (Berl). 2001;78(11):648-55. doi: 10.1007/s001090000155. J Mol Med (Berl). 2001. PMID: 11269512

3

MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region.

Vacca M, Filippini F, Budillon A, Rossi V, Della Ragione F, De Bonis ML, Mercadante G, Manzati E, Gualandi F, Bigoni S, Trabanelli C, Pini G, Calzolari E, Ferlini A, Meloni I, Hayek G, Zappella M, Renieri A, D'Urso M, D'Esposito M, Macdonald F, Kerr A, Dhanjal S, Hulten M. Vacca M, et al. Among authors: ferlini a. Brain Dev. 2001 Dec;23 Suppl 1:S246-50. doi: 10.1016/s0387-7604(01)00343-6. Brain Dev. 2001. PMID: 11738884

4

Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: in vitro mimicking and antisense modulation of the splicing abnormality.

Gualandi F, Rimessi P, Cardazzo B, Toffolatti L, Dunckley MG, Calzolari E, Patarnello T, Muntoni F, Ferlini A. Gualandi F, et al. Among authors: ferlini a. Gene. 2003 Jun 5;311:25-33. doi: 10.1016/s0378-1119(03)00527-4. Gene. 2003. PMID: 12853135

5

Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion.

Gualandi F, Trabanelli C, Rimessi P, Calzolari E, Toffolatti L, Patarnello T, Kunz G, Muntoni F, Ferlini A. Gualandi F, et al. Among authors: ferlini a. J Med Genet. 2003 Aug;40(8):e100. doi: 10.1136/jmg.40.8.e100. J Med Genet. 2003. PMID: 12920092 Free PMC article. No abstract available.

6

Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation.

Rimessi P, Gualandi F, Duprez L, Spitali P, Neri M, Merlini L, Calzolari E, Muntoni F, Ferlini A. Rimessi P, et al. Among authors: ferlini a. Am J Med Genet A. 2005 Feb 1;132A(4):391-4. doi: 10.1002/ajmg.a.30513. Am J Med Genet A. 2005. PMID: 15641026

7

Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene.

Gualandi F, Rimessi P, Trabanelli C, Spitali P, Neri M, Patarnello T, Angelini C, Yau SC, Abbs S, Muntoni F, Calzolari E, Ferlini A. Gualandi F, et al. Among authors: ferlini a. Gene. 2006 Mar 29;370:26-33. doi: 10.1016/j.gene.2005.11.002. Epub 2006 Jan 24. Gene. 2006. PMID: 16439068

8

Autosomal recessive myosclerosis myopathy is a collagen VI disorder.

Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P. Merlini L, et al. Among authors: ferlini a. Neurology. 2008 Oct 14;71(16):1245-53. doi: 10.1212/01.wnl.0000327611.01687.5e. Neurology. 2008. PMID: 18852439

9

Transcriptional behavior of DMD gene duplications in DMD/BMD males.

Gualandi F, Neri M, Bovolenta M, Martoni E, Rimessi P, Fini S, Spitali P, Fabris M, Pane M, Angelini C, Mora M, Morandi L, Mongini T, Bertini E, Ricci E, Vattemi G, Mercuri E, Merlini L, Ferlini A. Gualandi F, et al. Among authors: ferlini a. Hum Mutat. 2009 Feb;30(2):E310-9. doi: 10.1002/humu.20881. Hum Mutat. 2009. PMID: 18853462

10

A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1.

Imbrici P, Gualandi F, D'Adamo MC, Masieri MT, Cudia P, De Grandis D, Mannucci R, Nicoletti I, Tucker SJ, Ferlini A, Pessia M. Imbrici P, et al. Among authors: ferlini a. Neuroscience. 2008 Dec 2;157(3):577-87. doi: 10.1016/j.neuroscience.2008.09.022. Epub 2008 Sep 24. Neuroscience. 2008. PMID: 18926884

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