Mandich P - Search Results

1

Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.

Geroldi A, Ponti C, Mammi A, Patrone S, Gotta F, Trevisan L, Sanguineri F, Origone P, Gaudio A, La Barbera A, Cataldi M, Gemelli C, Massucco S, Schenone A, Lanteri P, Fiorillo C, Grandis M, Mandich P, Bellone E. Geroldi A, et al. Among authors: mandich p. Pediatr Neurol. 2024 May;154:4-8. doi: 10.1016/j.pediatrneurol.2024.02.002. Epub 2024 Feb 10. Pediatr Neurol. 2024. PMID: 38428336

2

Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype.

Callegari I, Gemelli C, Geroldi A, Veneri F, Mandich P, D'Antonio M, Pareyson D, Shy ME, Schenone A, Prada V, Grandis M. Callegari I, et al. Among authors: mandich p. J Neurol. 2019 Nov;266(11):2629-2645. doi: 10.1007/s00415-019-09453-3. Epub 2019 Jul 5. J Neurol. 2019. PMID: 31278453

3

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. J Child Neurol. 2010 Jan;25(1):107-9. doi: 10.1177/0883073809334387. Epub 2009 May 11. J Child Neurol. 2010. PMID: 19435728

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. Among authors: mandich p. 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: mandich p. Ann Neurol. 2012 Mar;71(3):427-31. doi: 10.1002/ana.22695. Ann Neurol. 2012. PMID: 22451207 Free PMC article.

6

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: mandich p. Eur J Neurol. 2015 Feb;22(2):406-9. doi: 10.1111/ene.12434. Epub 2014 Apr 12. Eur J Neurol. 2015. PMID: 24724718

7

Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise".

Grandis M, Geroldi A, Gulli R, Manganelli F, Gotta F, Lamp M, Origone P, Trevisan L, Gemelli C, Fabbri S, Schenone A, Tozza S, Santoro L, Bellone E, Mandich P. Grandis M, et al. Among authors: mandich p. Orphanet J Rare Dis. 2018 Oct 4;13(1):177. doi: 10.1186/s13023-018-0917-0. Orphanet J Rare Dis. 2018. PMID: 30286783 Free PMC article.

8

Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017.

Prada V, Massucco S, Venturi C, Geroldi A, Bellone E, Mandich P, Minuto M, Varaldo E, Mancardi G, Grandis M, Schenone A. Prada V, et al. Among authors: mandich p. Front Neurol. 2019 Nov 22;10:1218. doi: 10.3389/fneur.2019.01218. eCollection 2019. Front Neurol. 2019. PMID: 31824401 Free PMC article.

9

Early onset demyelinating Charcot-Marie-Tooth disease caused by a novel in-frame isoleucine deletion in peripheral myelin protein 2.

Geroldi A, Prada V, Veneri F, Trevisan L, Origone P, Grandis M, Schenone A, Gemelli C, Lanteri P, Fossa P, Mandich P, Bellone E. Geroldi A, et al. Among authors: mandich p. J Peripher Nerv Syst. 2020 Jun;25(2):102-106. doi: 10.1111/jns.12375. Epub 2020 May 4. J Peripher Nerv Syst. 2020. PMID: 32277537

10

A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?

Gotta F, Lamp M, Geroldi A, Trevisan L, Origone P, Fugazza G, Fabbri S, Nesti C, Rubegni A, Morani F, Santorelli FM, Bellone E, Mandich P. Gotta F, et al. Among authors: mandich p. Ann Hum Genet. 2020 Sep;84(5):417-422. doi: 10.1111/ahg.12384. Epub 2020 Apr 12. Ann Hum Genet. 2020. PMID: 32281099

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