Piemonte F - Search Results

1

Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.

Ferreira M, Torraco A, Rizza T, Fattori F, Meschini MC, Castana C, Go NE, Nargang FE, Duarte M, Piemonte F, Dionisi-Vici C, Videira A, Vilarinho L, Santorelli FM, Carrozzo R, Bertini E. Ferreira M, et al. Among authors: piemonte f. Neurogenetics. 2011 Feb;12(1):9-17. doi: 10.1007/s10048-010-0265-2. Epub 2011 Jan 4. Neurogenetics. 2011. PMID: 21203893

2

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: piemonte f. 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

3

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: piemonte f. Acta Neurol Scand. 2000 Apr;101(4):255-8. doi: 10.1034/j.1600-0404.2000.101004255.x. Acta Neurol Scand. 2000. PMID: 10770522

4

A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency.

Santoro L, Carrozzo R, Malandrini A, Piemonte F, Patrono C, Villanova M, Tessa A, Palmeri S, Bertini E, Santorelli FM. Santoro L, et al. Among authors: piemonte f. Neuromuscul Disord. 2000 Aug;10(6):450-3. doi: 10.1016/s0960-8966(99)00122-4. Neuromuscul Disord. 2000. PMID: 10899453

5

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome.

Carrozzo R, Tessa A, Vázquez-Memije ME, Piemonte F, Patrono C, Malandrini A, Dionisi-Vici C, Vilarinho L, Villanova M, Schägger H, Federico A, Bertini E, Santorelli FM. Carrozzo R, et al. Among authors: piemonte f. Neurology. 2001 Mar 13;56(5):687-90. doi: 10.1212/wnl.56.5.687. Neurology. 2001. PMID: 11245730

6

Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27.

Francalanci P, Eymard-Pierre E, Dionisi-Vici C, Boldrini R, Piemonte F, Virgili R, Fariello G, Bosman C, Santorelli FM, Boespflug-Tanguy O, Bertini E. Francalanci P, et al. Among authors: piemonte f. Neurology. 2001 Jul 24;57(2):265-70. doi: 10.1212/wnl.57.2.265. Neurology. 2001. PMID: 11468311

7

Respiratory chain defects in hereditary spastic paraplegias.

Piemonte F, Casali C, Carrozzo R, Schägger H, Patrono C, Tessa A, Tozzi G, Cricchi F, Di Capua M, Siciliano G, Amabile GA, Morocutti C, Bertini E, Santorelli FM. Piemonte F, et al. Neuromuscul Disord. 2001 Sep;11(6-7):565-9. doi: 10.1016/s0960-8966(01)00214-0. Neuromuscul Disord. 2001. PMID: 11525886

8

Hypertrophic cardiomyopathy and mtDNA depletion. Successful treatment with heart transplantation.

Santorelli FM, Gagliardi MG, Dionisi-Vici C, Parisi F, Tessa A, Carrozzo R, Piemonte F, Pfeiffer K, Schägger H, Bertini E. Santorelli FM, et al. Among authors: piemonte f. Neuromuscul Disord. 2002 Jan;12(1):56-9. doi: 10.1016/s0960-8966(01)00248-6. Neuromuscul Disord. 2002. PMID: 11731286

9

Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit.

Petruzzella V, Di Giacinto G, Scacco S, Piemonte F, Torraco A, Carrozzo R, Vergari R, Dionisi-Vici C, Longo D, Tessa A, Papa S, Bertini E. Petruzzella V, et al. Among authors: piemonte f. Neurology. 2003 Oct 14;61(7):1017-8. doi: 10.1212/01.wnl.0000080363.10902.e9. Neurology. 2003. PMID: 14557590 No abstract available.

10

Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis.

Bonsignore M, Tessa A, Di Rosa G, Piemonte F, Dionisi-Vici C, Simonati A, Calamoneri F, Tortorella G, Santorelli FM. Bonsignore M, et al. Among authors: piemonte f. Eur J Paediatr Neurol. 2006 May;10(3):154-6. doi: 10.1016/j.ejpn.2006.04.002. Epub 2006 Jun 8. Eur J Paediatr Neurol. 2006. PMID: 16759889

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