Bertini E - Search Results

1

Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.

Galosi S, Barca E, Carrozzo R, Schirinzi T, Quinzii CM, Lieto M, Vasco G, Zanni G, Di Nottia M, Galatolo D, Filla A, Bertini E, Santorelli FM, Leuzzi V, Haas R, Hirano M, Friedman J. Galosi S, et al. Among authors: bertini e. Parkinsonism Relat Disord. 2019 Nov;68:8-16. doi: 10.1016/j.parkreldis.2019.09.015. Epub 2019 Sep 28. Parkinsonism Relat Disord. 2019. PMID: 31621627 Review.

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: bertini e. 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 novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient.

Santorelli FM, Bertini E, Petruzzella V, Di Capua M, Calvieri S, Gasparini P, Zeviani M. Santorelli FM, et al. Among authors: bertini e. Biochem Biophys Res Commun. 1998 Apr 17;245(2):519-22. doi: 10.1006/bbrc.1998.8484. Biochem Biophys Res Commun. 1998. PMID: 9571187

4

[Diagnosis of mitochondrial cardiomyopathies: the need for a multidisciplinary approach].

Santorelli FM, Bertini E. Santorelli FM, et al. Among authors: bertini e. G Ital Cardiol. 1999 Oct;29(10):1181-3. G Ital Cardiol. 1999. PMID: 10546130 Italian. No abstract available.

5

HyperCKemia as the only sign of McArdle's disease in a child.

Bruno C, Bertini E, Santorelli FM, DiMauro S. Bruno C, et al. Among authors: bertini e. J Child Neurol. 2000 Feb;15(2):137-8. doi: 10.1177/088307380001500216. J Child Neurol. 2000. PMID: 10695902

6

Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome.

Patrono C, Rizzo C, Tessa A, Giannotti A, Borrelli P, Carrozzo R, Piemonte F, Bertini E, Dionisi-Vici C, Santorelli FM. Patrono C, et al. Among authors: bertini e. Am J Med Genet. 2000 Mar 13;91(2):138-40. doi: 10.1002/(sici)1096-8628(20000313)91:2<138::aid-ajmg12>3.0.co;2-q. Am J Med Genet. 2000. PMID: 10748414

7

OXPHOS and mtDNA alterations in a family with spastic paraparesis.

Santorelli FM, Piemonte F, Carrozzo R, Tessa A, Patrono C, Tozzi G, Bertini E. Santorelli FM, et al. Among authors: bertini e. Acta Neurol Scand. 2000 Apr;101(4):255-8. doi: 10.1034/j.1600-0404.2000.101004255.x. Acta Neurol Scand. 2000. PMID: 10770522

8

X-linked congenital ataxia: a clinical and genetic study.

Bertini E, des Portes V, Zanni G, Santorelli F, Dionisi-Vici C, Vicari S, Fariello G, Chelly J. Bertini E, et al. Am J Med Genet. 2000 May 1;92(1):53-6. Am J Med Genet. 2000. PMID: 10797423

9

A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children.

Tessa A, Simonati A, Tavoni A, Bertini E, Santorelli FM. Tessa A, et al. Among authors: bertini e. Hum Mutat. 2000 Jun;15(6):577. doi: 10.1002/1098-1004(200006)15:6<577::AID-HUMU10>3.0.CO;2-Z. Hum Mutat. 2000. PMID: 10862088

10

Ataxia, deafness, leukodystrophy: inherited disorder of the white matter in three related patients.

Leuzzi V, Rinna A, Gallucci M, Di Capua M, Dionisi-Vici C, Longo D, Bertini E. Leuzzi V, et al. Among authors: bertini e. Neurology. 2000 Jun 27;54(12):2325-8. doi: 10.1212/wnl.54.12.2325. Neurology. 2000. PMID: 10881263

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