Reale C - Search Results

1

Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype.

Carecchio M, Panteghini C, Reale C, Barzaghi C, Monti V, Romito L, Sasanelli F, Garavaglia B. Carecchio M, et al. Among authors: reale c. Parkinsonism Relat Disord. 2016 Feb;23:66-71. doi: 10.1016/j.parkreldis.2015.12.012. Epub 2015 Dec 18. Parkinsonism Relat Disord. 2016. PMID: 26725140

2

The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration.

Chiapparini L, Savoiardo M, D'Arrigo S, Reale C, Zorzi G, Zibordi F, Cordelli DM, Franzoni E, Garavaglia B, Nardocci N. Chiapparini L, et al. Among authors: reale c. Neuropediatrics. 2011 Aug;42(4):159-62. doi: 10.1055/s-0031-1285925. Epub 2011 Aug 29. Neuropediatrics. 2011. PMID: 21877312

3

C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.

Panteghini C, Zorzi G, Venco P, Dusi S, Reale C, Brunetti D, Chiapparini L, Zibordi F, Siegel B, Garavaglia B, Simonati A, Bertini E, Nardocci N, Tiranti V. Panteghini C, et al. Among authors: reale c. Semin Pediatr Neurol. 2012 Jun;19(2):75-81. doi: 10.1016/j.spen.2012.03.006. Semin Pediatr Neurol. 2012. PMID: 22704260

4

Expanding the clinical phenotype of DYT5 mutations: is multiple system atrophy a possible one?

Ceravolo R, Nicoletti V, Garavaglia B, Reale C, Kiferle L, Bonuccelli U. Ceravolo R, et al. Among authors: reale c. Neurology. 2013 Jul 16;81(3):301-2. doi: 10.1212/WNL.0b013e31829bfd7c. Epub 2013 Jun 14. Neurology. 2013. PMID: 23771491 No abstract available.

5

Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia.

Cilia R, Reale C, Castagna A, Nasca A, Muzi-Falconi M, Barzaghi C, Marzegan A, Granata M, Marotta G, Sacilotto G, Vallauri D, Pezzoli G, Goldwurm S, Garavaglia B. Cilia R, et al. Among authors: reale c. Neurology. 2014 Sep 23;83(13):1155-62. doi: 10.1212/WNL.0000000000000821. Epub 2014 Aug 22. Neurology. 2014. PMID: 25150291 Free PMC article.

6

Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts.

Zanellati MC, Monti V, Barzaghi C, Reale C, Nardocci N, Albanese A, Valente EM, Ghezzi D, Garavaglia B. Zanellati MC, et al. Among authors: reale c. Front Genet. 2015 Mar 11;6:78. doi: 10.3389/fgene.2015.00078. eCollection 2015. Front Genet. 2015. PMID: 25815004 Free PMC article.

7

DYT2 screening in early-onset isolated dystonia.

Carecchio M, Reale C, Invernizzi F, Monti V, Petrucci S, Ginevrino M, Morgante F, Zorzi G, Zibordi F, Bentivoglio AR, Valente EM, Nardocci N, Garavaglia B. Carecchio M, et al. Among authors: reale c. Eur J Paediatr Neurol. 2017 Mar;21(2):269-271. doi: 10.1016/j.ejpn.2016.10.001. Epub 2016 Oct 13. Eur J Paediatr Neurol. 2017. PMID: 27771228

8

The relevance of gene panels in movement disorders diagnosis: A lab perspective.

Reale C, Panteghini C, Carecchio M, Garavaglia B. Reale C, et al. Eur J Paediatr Neurol. 2018 Mar;22(2):285-291. doi: 10.1016/j.ejpn.2018.01.013. Epub 2018 Jan 31. Eur J Paediatr Neurol. 2018. PMID: 29396176

9

Encephalopathies with intracranial calcification in children: clinical and genetic characterization.

Tonduti D, Panteghini C, Pichiecchio A, Decio A, Carecchio M, Reale C, Moroni I, Nardocci N, Campistol J, Garcia-Cazorla A, Perez Duenas B; Cerebral Calcification International Study Group; Chiapparini L, Garavaglia B, Orcesi S. Tonduti D, et al. Among authors: reale c. Orphanet J Rare Dis. 2018 Aug 16;13(1):135. doi: 10.1186/s13023-018-0854-y. Orphanet J Rare Dis. 2018. PMID: 30111349 Free PMC article.

10

Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy.

Monzio Compagnoni G, Kleiner G, Bordoni A, Fortunato F, Ronchi D, Salani S, Guida M, Corti C, Pichler I, Bergamini C, Fato R, Pellecchia MT, Vallelunga A, Del Sorbo F, Elia A, Reale C, Garavaglia B, Mora G, Albanese A, Cogiamanian F, Ardolino G, Bresolin N, Corti S, Comi GP, Quinzii CM, Di Fonzo A. Monzio Compagnoni G, et al. Among authors: reale c. Biochim Biophys Acta Mol Basis Dis. 2018 Dec;1864(12):3588-3597. doi: 10.1016/j.bbadis.2018.09.018. Epub 2018 Sep 19. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 30254015 Free article.

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