Garavaglia B - Search Results

1

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.

Carecchio M, Invernizzi F, Gonzàlez-Latapi P, Panteghini C, Zorzi G, Romito L, Leuzzi V, Galosi S, Reale C, Zibordi F, Joseph AP, Topf M, Piano C, Bentivoglio AR, Girotti F, Morana P, Morana B, Kurian MA, Garavaglia B, Mencacci NE, Lubbe SJ, Nardocci N. Carecchio M, et al. Among authors: garavaglia b. Mov Disord. 2019 Oct;34(10):1516-1527. doi: 10.1002/mds.27771. Epub 2019 Jun 19. Mov Disord. 2019. PMID: 31216378

2

Bilateral striatal necrosis, dystonia and optic atrophy in two siblings.

Leuzzi V, Bertini E, De Negri AM, Gallucci M, Garavaglia B. Leuzzi V, et al. Among authors: garavaglia b. J Neurol Neurosurg Psychiatry. 1992 Jan;55(1):16-9. doi: 10.1136/jnnp.55.1.16. J Neurol Neurosurg Psychiatry. 1992. PMID: 1548491 Free PMC article.

3

A case of Refsum disease with atypical clinical picture in family members.

Marano R, Soliveri P, Garavaglia B, Antonelli A, Girotti F. Marano R, et al. Among authors: garavaglia b. Ital J Neurol Sci. 1989 Aug;10(4):451-4. doi: 10.1007/BF02334952. Ital J Neurol Sci. 1989. PMID: 2477346

4

Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency.

Pons R, Cavadini P, Baratta S, Invernizzi F, Lamantea E, Garavaglia B, Taroni F. Pons R, et al. Among authors: garavaglia b. Pediatr Neurol. 2000 Feb;22(2):98-105. doi: 10.1016/s0887-8994(99)00132-0. Pediatr Neurol. 2000. PMID: 10738914

5

Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency.

Invernizzi F, Burlina AB, Donadio A, Giordano G, Taroni F, Garavaglia B. Invernizzi F, et al. Among authors: garavaglia b. J Inherit Metab Dis. 2001 Oct;24(5):601-2. doi: 10.1023/a:1012476029536. J Inherit Metab Dis. 2001. PMID: 11757589

6

Frequency of DYT1 mutation in early onset primary dystonia in Italian patients.

Zorzi G, Garavaglia B, Invernizzi F, Girotti F, Soliveri P, Zeviani M, Angelini L, Nardocci N. Zorzi G, et al. Among authors: garavaglia b. Mov Disord. 2002 Mar;17(2):407-8. doi: 10.1002/mds.10045. Mov Disord. 2002. PMID: 11921134

7

Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency.

Nardocci N, Zorzi G, Blau N, Fernandez Alvarez E, Sesta M, Angelini L, Pannacci M, Invernizzi F, Garavaglia B. Nardocci N, et al. Among authors: garavaglia b. Neurology. 2003 Jan 28;60(2):335-7. doi: 10.1212/01.wnl.0000044049.99690.ad. Neurology. 2003. PMID: 12552057

8

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

9

GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations.

Garavaglia B, Invernizzi F, Carbone ML, Viscardi V, Saracino F, Ghezzi D, Zeviani M, Zorzi G, Nardocci N. Garavaglia B, et al. J Inherit Metab Dis. 2004;27(4):455-63. doi: 10.1023/B:BOLI.0000037349.08483.96. J Inherit Metab Dis. 2004. PMID: 15303002

10

Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity.

Hörtnagel K, Nardocci N, Zorzi G, Garavaglia B, Botz E, Meitinger T, Klopstock T. Hörtnagel K, et al. Among authors: garavaglia b. Neurology. 2004 Sep 14;63(5):922-4. doi: 10.1212/01.wnl.0000137046.28085.b2. Neurology. 2004. PMID: 15365152

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