Gulli R - Search Results

1

Contribution of copy number variations in CMT1X: a retrospective study.

Capponi S, Geroldi A, Pezzini I, Gulli R, Ciotti P, Ursino G, Lamp M, Reni L, Schenone A, Grandis M, Mandich P, Bellone E. Capponi S, et al. Among authors: gulli r. Eur J Neurol. 2015 Feb;22(2):406-9. doi: 10.1111/ene.12434. Epub 2014 Apr 12. Eur J Neurol. 2015. PMID: 24724718

2

GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.

Pezzini I, Geroldi A, Capponi S, Gulli R, Schenone A, Grandis M, Doria-Lamba L, La Piana C, Cremonte M, Pisciotta C, Nolano M, Manganelli F, Santoro L, Mandich P, Bellone E. Pezzini I, et al. Among authors: gulli r. Neuromuscul Disord. 2016 Jan;26(1):26-32. doi: 10.1016/j.nmd.2015.09.008. Epub 2015 Sep 16. Neuromuscul Disord. 2016. PMID: 26525999

3

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease.

Mandich P, Grandis M, Geroldi A, Acquaviva M, Varese A, Gulli R, Ciotti P, Bellone E. Mandich P, et al. Among authors: gulli r. J Hum Genet. 2008;53(6):529-533. doi: 10.1007/s10038-008-0280-4. Epub 2008 Apr 1. J Hum Genet. 2008. PMID: 18379723

4

Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.

Mandich P, Fossa P, Capponi S, Geroldi A, Acquaviva M, Gulli R, Ciotti P, Manganelli F, Grandis M, Bellone E. Mandich P, et al. Among authors: gulli r. Eur J Hum Genet. 2009 Sep;17(9):1129-34. doi: 10.1038/ejhg.2009.37. Epub 2009 Mar 18. Eur J Hum Genet. 2009. PMID: 19293842 Free PMC article.

5

HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.

Capponi S, Geroldi A, Fossa P, Grandis M, Ciotti P, Gulli R, Schenone A, Mandich P, Bellone E. Capponi S, et al. Among authors: gulli r. J Peripher Nerv Syst. 2011 Dec;16(4):287-94. doi: 10.1111/j.1529-8027.2011.00361.x. J Peripher Nerv Syst. 2011. PMID: 22176143

6

A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect.

Di Maria E, Gulli R, Balestra P, Cassandrini D, Pigullo S, Doria-Lamba L, Bado M, Schenone A, Ajmar F, Mandich P, Bellone E. Di Maria E, et al. Among authors: gulli r. J Neurol Neurosurg Psychiatry. 2004 Oct;75(10):1495-8. doi: 10.1136/jnnp.2003.028100. J Neurol Neurosurg Psychiatry. 2004. PMID: 15377708 Free PMC article.

7

Severe neuropathy after diphtheria-tetanus-pertussis vaccination in a child carrying a novel frame-shift mutation in the small heat-shock protein 27 gene.

Mandich P, Grandis M, Varese A, Geroldi A, Acquaviva M, Ciotti P, Gulli R, Doria-Lamba L, Fabrizi GM, Giribaldi G, Pizzuti A, Schenone A, Bellone E. Mandich P, et al. Among authors: gulli r. J Child Neurol. 2010 Jan;25(1):107-9. doi: 10.1177/0883073809334387. Epub 2009 May 11. J Child Neurol. 2010. PMID: 19435728

8

Germline mutations in the von Hippel-Lindau gene in Italian patients.

Ciotti P, Garuti A, Gulli R, Ballestrero A, Bellone E, Mandich P. Ciotti P, et al. Among authors: gulli r. Eur J Med Genet. 2009 Sep-Oct;52(5):311-4. doi: 10.1016/j.ejmg.2009.05.007. Epub 2009 May 21. Eur J Med Genet. 2009. PMID: 19464396

9

A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease.

Ciotti P, Luigetti M, Geroldi A, Capponi S, Pezzini I, Gulli R, Pazzaglia C, Padua L, Massa R, Mandich P, Bellone E. Ciotti P, et al. Among authors: gulli r. J Neurol Sci. 2014 Aug 15;343(1-2):183-6. doi: 10.1016/j.jns.2014.05.029. Epub 2014 May 22. J Neurol Sci. 2014. PMID: 24880540

10

Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance.

Geroldi A, Lastella P, Patruno M, Gotta F, Resta N, Devigili G, Sabbà C, Gulli R, Lamp M, Origone P, Mandich P, Bellone E. Geroldi A, et al. Among authors: gulli r. Neuromuscul Disord. 2017 Apr;27(4):377-381. doi: 10.1016/j.nmd.2017.01.010. Epub 2017 Jan 17. Neuromuscul Disord. 2017. PMID: 28215760

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