Santorelli FM - Search Results

1

DNA end labelling (TUNEL) in a 3 year old girl with Leigh syndrome and prevalent cortical involvement.

Formichi P, Malandrini A, Battisti C, Santorelli FM, Gambelli S, Tripodi SA, Berti G, Salvadori C, Tessa A, Federico A. Formichi P, et al. Among authors: santorelli fm. J Neurol Neurosurg Psychiatry. 2004 Jun;75(6):930-2. doi: 10.1136/jnnp.2003.016410. J Neurol Neurosurg Psychiatry. 2004. PMID: 15146020 Free PMC article.

2

A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.

Santorelli FM, Shanske S, Jain KD, Tick D, Schon EA, DiMauro S. Santorelli FM, et al. Neurology. 1994 May;44(5):972-4. doi: 10.1212/wnl.44.5.972. Neurology. 1994. PMID: 8190310

3

Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family.

Casali C, Fabrizi GM, Santorelli FM, Colazza G, Villanova M, Dotti MT, Cavallaro T, Cardaioli E, Battisti C, Manneschi L, DiGennaro GC, Fortini D, Spadaro M, Morocutti C, Federico A. Casali C, et al. Among authors: santorelli fm. Neurology. 1999 Mar 23;52(5):1103-4. doi: 10.1212/wnl.52.5.1103. Neurology. 1999. PMID: 10102446 No abstract available.

4

Detection of beta-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjögren).

Villanova M, Ceuterick C, Dotti MT, Santorelli FM, Casali C, Malandrini A, De Stefano N, Lübke U, Martin JJ, Guazzi GC, Federico A. Villanova M, et al. Among authors: santorelli fm. Acta Neuropathol. 1999 Jul;98(1):78-84. doi: 10.1007/s004010051053. Acta Neuropathol. 1999. PMID: 10412803

5

MtDNA-related idiopathic dilated cardiomyopathy.

Tessa A, Vilarinho L, Casali C, Santorelli FM. Tessa A, et al. Among authors: santorelli fm. Eur J Hum Genet. 1999 Dec;7(8):847-8. doi: 10.1038/sj.ejhg.5200380. Eur J Hum Genet. 1999. PMID: 10602359 No abstract available.

6

Chronic diarrhea associated with the A3243G mtDNA mutation.

Santorelli FM, Villanova M, Malandrini A, Grieco GS, Palmeri S, Merlini L, Casali C. Santorelli FM, et al. Neurology. 2000 Jan 11;54(1):266-7. doi: 10.1212/wnl.54.1.266. Neurology. 2000. PMID: 10636171 No abstract available.

7

Encephalomyopathy with multiple mitochondrial DNA deletions and multiple symmetric lipomatosis: further evidence of a possible association.

Mancuso M, Bianchi MC, Santorelli FM, Tessa A, Casali C, Murri L, Siciliano G. Mancuso M, et al. Among authors: santorelli fm. J Neurol. 1999 Dec;246(12):1197-8. doi: 10.1007/s004150050543. J Neurol. 1999. PMID: 10653316 No abstract available.

8

Multiple mtDNA deletions: clinical and molecular correlations.

Santorelli FM, De Joanna G, Casali C, Tessa A, Siciliano G, Amabile GA, Pierelli F, Vilarinho L, Santoro L. Santorelli FM, et al. J Inherit Metab Dis. 2000 Mar;23(2):155-61. doi: 10.1023/a:1005617916260. J Inherit Metab Dis. 2000. PMID: 10801057

9

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: santorelli fm. Neuromuscul Disord. 2000 Aug;10(6):450-3. doi: 10.1016/s0960-8966(99)00122-4. Neuromuscul Disord. 2000. PMID: 10899453

10

A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.

Giannotti A, Tessa A, Patrono C, Florio LD, Velardo M, Dionisi-Vici C, Bertini E, Santorelli FM. Giannotti A, et al. Among authors: santorelli fm. Hum Mutat. 2000 Sep;16(3):277. doi: 10.1002/1098-1004(200009)16:3<277::AID-HUMU25>3.0.CO;2-V. Hum Mutat. 2000. PMID: 10980549 No abstract available.

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