Capponi S - 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. 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: capponi s. 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

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: capponi s. 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.

4

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. 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

5

Gain of glycosylation: a new pathomechanism of myelin protein zero mutations.

Prada V, Passalacqua M, Bono M, Luzzi P, Scazzola S, Nobbio LA, Capponi S, Bellone E, Mandich P, Mancardi G, Shy M, Schenone A, Grandis M. Prada V, et al. Among authors: capponi s. Ann Neurol. 2012 Mar;71(3):427-31. doi: 10.1002/ana.22695. Ann Neurol. 2012. PMID: 22451207 Free PMC article.

6

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: capponi s. 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

7

Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation.

Prada V, Capponi S, Ursino G, Alberti A, Callegari I, Passalacqua M, Marotta R, Mandich P, Bellone E, Schenone A, Grandis M. Prada V, et al. Among authors: capponi s. Neuropathology. 2015 Jun;35(3):254-9. doi: 10.1111/neup.12179. Epub 2014 Nov 11. Neuropathology. 2015. PMID: 25388615

8

A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family.

Manganelli F, Pisciotta C, Nolano M, Capponi S, Geroldi A, Topa A, Bellone E, Suls A, Mandich P, Santoro L. Manganelli F, et al. Among authors: capponi s. J Peripher Nerv Syst. 2012 Sep;17(3):351-5. doi: 10.1111/j.1529-8027.2012.00414.x. J Peripher Nerv Syst. 2012. PMID: 22971097

9

Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.

Manganelli F, Tozza S, Pisciotta C, Bellone E, Iodice R, Nolano M, Geroldi A, Capponi S, Mandich P, Santoro L. Manganelli F, et al. Among authors: capponi s. J Peripher Nerv Syst. 2014 Dec;19(4):292-8. doi: 10.1111/jns.12092. J Peripher Nerv Syst. 2014. PMID: 25429913

10

Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy.

Tufano M, Cappuccio G, Terrone G, Manganelli F, Pisciotta C, Geroldi A, Capponi S, Del Giudice E. Tufano M, et al. Among authors: capponi s. J Peripher Nerv Syst. 2015 Dec;20(4):415-8. doi: 10.1111/jns.12148. J Peripher Nerv Syst. 2015. PMID: 26307494

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