Barzaghi 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: barzaghi 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

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: barzaghi 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.

3

Adult-Onset Focal Chorea in Fahr's Disease Resulting From SLC20A2 Mutation: A Novel Phenotype.

Carecchio M, Barzaghi C, Varrasi C, Cantello R, Garavaglia B. Carecchio M, et al. Among authors: barzaghi c. Mov Disord Clin Pract. 2014 Dec 6;2(1):79-80. doi: 10.1002/mdc3.12114. eCollection 2015 Mar. Mov Disord Clin Pract. 2014. PMID: 30713885 Free PMC article. No abstract available.

4

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: barzaghi c. Front Genet. 2015 Mar 11;6:78. doi: 10.3389/fgene.2015.00078. eCollection 2015. Front Genet. 2015. PMID: 25815004 Free PMC article.

5

Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families.

Nardocci N, Zorzi G, Barzaghi C, Zibordi F, Ciano C, Ghezzi D, Garavaglia B. Nardocci N, et al. Among authors: barzaghi c. Mov Disord. 2008 Jan;23(1):28-34. doi: 10.1002/mds.21715. Mov Disord. 2008. PMID: 17853490 Free article.

6

Isolated limb dystonia as presenting feature of Parkin disease.

Elia AE, Del Sorbo F, Romito LM, Barzaghi C, Garavaglia B, Albanese A. Elia AE, et al. Among authors: barzaghi c. J Neurol Neurosurg Psychiatry. 2014 Jul;85(7):827-8. doi: 10.1136/jnnp-2013-307294. Epub 2014 Mar 21. J Neurol Neurosurg Psychiatry. 2014. PMID: 24659796 No abstract available.

7

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.

Mencacci NE, Kamsteeg EJ, Nakashima K, R'Bibo L, Lynch DS, Balint B, Willemsen MA, Adams ME, Wiethoff S, Suzuki K, Davies CH, Ng J, Meyer E, Veneziano L, Giunti P, Hughes D, Raymond FL, Carecchio M, Zorzi G, Nardocci N, Barzaghi C, Garavaglia B, Salpietro V, Hardy J, Pittman AM, Houlden H, Kurian MA, Kimura H, Vissers LE, Wood NW, Bhatia KP. Mencacci NE, et al. Among authors: barzaghi c. Am J Hum Genet. 2016 Apr 7;98(4):763-71. doi: 10.1016/j.ajhg.2016.02.015. Am J Hum Genet. 2016. PMID: 27058447 Free PMC article.

8

A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.

Marelli C, Canafoglia L, Zibordi F, Ciano C, Visani E, Zorzi G, Garavaglia B, Barzaghi C, Albanese A, Soliveri P, Leone M, Panzica F, Scaioli V, Pincherle A, Nardocci N, Franceschetti S. Marelli C, et al. Among authors: barzaghi c. Mov Disord. 2008 Oct 30;23(14):2041-8. doi: 10.1002/mds.22256. Mov Disord. 2008. PMID: 18759336

9

A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction.

Ghezzi D, Canavese C, Kovacevic G, Zamurovic D, Barzaghi C, Giorgi C, Zorzi G, Zeviani M, Pinton P, Garavaglia B, Nardocci N. Ghezzi D, et al. Among authors: barzaghi c. Eur J Paediatr Neurol. 2015 Jan;19(1):64-8. doi: 10.1016/j.ejpn.2014.10.003. Epub 2014 Oct 18. Eur J Paediatr Neurol. 2015. PMID: 25453601

10

Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study.

Gelmetti V, Ferraris A, Brusa L, Romano F, Lombardi F, Barzaghi C, Stanzione P, Garavaglia B, Dallapiccola B, Valente EM. Gelmetti V, et al. Among authors: barzaghi c. Mov Disord. 2008 Apr 30;23(6):881-5. doi: 10.1002/mds.21960. Mov Disord. 2008. PMID: 18307263

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