Garavaglia B - Search Results

1

Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder.

Romito LM, Colucci F, Leta V, Panteghini C, Telese R, Tolva G, Villa R, Elia AE, Eleopra R, Peron A, Garavaglia B, Iascone M. Romito LM, et al. Among authors: garavaglia b. Mov Disord Clin Pract. 2024 Oct 24. doi: 10.1002/mdc3.14246. Online ahead of print. Mov Disord Clin Pract. 2024. PMID: 39446029 No abstract available.

2

Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity.

Valente EM, Misbahuddin A, Brancati F, Placzek MR, Garavaglia B, Salvi S, Nemeth A, Shaw-Smith C, Nardocci N, Bentivoglio AR, Berardelli A, Eleopra R, Dallapiccola B, Warner TT. Valente EM, et al. Among authors: garavaglia b. Mov Disord. 2003 Sep;18(9):1047-51. doi: 10.1002/mds.10476. Mov Disord. 2003. PMID: 14502674

3

High frequency stimulation of the subthalamic nucleus is efficacious in Parkin disease.

Romito LM, Contarino MF, Ghezzi D, Franzini A, Garavaglia B, Albanese A. Romito LM, et al. Among authors: garavaglia b. J Neurol. 2005 Feb;252(2):208-11. doi: 10.1007/s00415-005-0638-x. J Neurol. 2005. PMID: 15729528 Clinical Trial.

4

Normal cardiovascular reflex testing in patients with parkin disease.

Del Sorbo F, Elia AE, De Joanna G, Romito LM, Garavaglia B, Albanese A. Del Sorbo F, et al. Among authors: garavaglia b. Mov Disord. 2007 Mar 15;22(4):528-32. doi: 10.1002/mds.21307. Mov Disord. 2007. PMID: 17230469

5

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: garavaglia b. Semin Pediatr Neurol. 2012 Jun;19(2):75-81. doi: 10.1016/j.spen.2012.03.006. Semin Pediatr Neurol. 2012. PMID: 22704260

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: garavaglia b. 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

Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case report.

Frattini D, Nardocci N, Pascarella R, Panteghini C, Garavaglia B, Fusco C. Frattini D, et al. Among authors: garavaglia b. Brain Dev. 2015 Feb;37(2):270-2. doi: 10.1016/j.braindev.2014.04.010. Epub 2014 May 5. Brain Dev. 2015. PMID: 24800972

8

A case of infantile neuroaxonal dystrophy of neonatal onset.

Fusco C, Frattini D, Panteghini C, Pascarella R, Garavaglia B. Fusco C, et al. Among authors: garavaglia b. J Child Neurol. 2015 Mar;30(3):368-70. doi: 10.1177/0883073814535493. Epub 2014 May 27. J Child Neurol. 2015. PMID: 24870368

9

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: garavaglia b. 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

10

Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.

Tonduti D, Chiapparini L, Moroni I, Ardissone A, Zorzi G, Zibordi F, Raspante S, Panteghini C, Garavaglia B, Nardocci N. Tonduti D, et al. Among authors: garavaglia b. Curr Neurol Neurosci Rep. 2016 Jun;16(6):54. doi: 10.1007/s11910-016-0656-3. Curr Neurol Neurosci Rep. 2016. PMID: 27074771 Review.

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