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mtDNA mutation in the ATPase6 gene studied by E. Coli modeling". Neurological Sciences 21 9 (2000): http://www.scopus.com/inward/record.url?eid=2-s2.0-0034570211&partnerID=MN8TOARS.
- Giannotti, A.; Tessa, A.; Patrono, C.; Florio, L.D.; Velardo, M.; Dionisi-Vici, C.; Bertini, E.; Santorelli, F.M.. "A novel
CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.". Human mutation 16 3 (2000): 277-277. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034267570&partnerID=MN8TOARS.
10.1002/1098-1004(200009)16:3<277::AID-HUMU25>3.0.CO;2-V
- Nappi, G.; Costa, A.; Tassorelli, C.; Santorelli, F.M.. "Migraine as a complex disease: Heterogeneity, comorbidity and genotype-phenotype
interactions". Functional Neurology 15 2 (2000): 87-93. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034044590&partnerID=MN8TOARS.
- Tessa, A.; Manca, M.L.; Mancuso, M.; Renna, M.R.; Murri, L.; Martini, B.; Santorelli, F.M.; Siciliano, G.. "Abnormal H-Tfam
in a patient harboring a single mtDNA deletion". Functional Neurology 15 4 (2000): 211-214. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034492934&partnerID=MN8TOARS.
- Santorelli, F.M.; Villanova, M.; Malandrini, A.; Grieco, G.S.; Palmeri, S.; Merlini, L.; Casali, C.. "Chronic diarrhea associated
with the A3243G mtDNA mutation". Neurology 54 1 (2000): 266-267. http://www.scopus.com/inward/record.url?eid=2-s2.0-0033982969&partnerID=MN8TOARS.
10.1212/wnl.54.1.266
- Santoro, L.; Carrozzo, R.; Malandrini, A.; Piemonte, F.; Patrono, C.; Villanova, M.; Tessa, A.; et al. "A novel SURF1 mutation
results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency". Neuromuscular Disorders
10 6 (2000): 450-453. http://www.scopus.com/inward/record.url?eid=2-s2.0-17444437997&partnerID=MN8TOARS.
10.1016/S0960-8966(99)00122-4
- Di Gennaro, G.; Buzzi, M.G.; Ciccarelli, O.; Santorelli, F.M.; Pierelli, F.; Fortini, D.; D'Onofrio, M.; et al. "Assessing
the relative incidence of mitochondrial DNA A3243G in migraine without aura with maternal inheritance". Headache 40
7 (2000): 568-571. http://www.scopus.com/inward/record.url?eid=2-s2.0-0033931918&partnerID=MN8TOARS.
10.1046/j.1526-4610.2000.00088.x
- Vilà, M.R.; Gámez, J.; Solano, A.; Playán, A.; Schwartz, S.; Santorelli, F.M.; Cervera, C.; et al. "Uncoupling protein-1 mRNA
expression in lipomas from patients bearing pathogenic mitochondrial DNA mutations". Biochemical and Biophysical Research
Communications 278 3 (2000): 800-802. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034736071&partnerID=MN8TOARS.
10.1006/bbrc.2000.3828
- Santorelli, F.M.; De Joanna, G.; Casali, C.; Tessa, A.; Siciliano, G.; Amabile, G.A.; Pierelli, F.; Vilarinho, L.; Santoro,
L.. "Multiple mtDNA deletions: Clinical and molecular correlations". Journal of Inherited Metabolic Disease 23 2 (2000):
155-161. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034040515&partnerID=MN8TOARS.
10.1023/A:1005617916260
- Simonati, A.; Santorum, E.; Tessa, A.; Polo, A.; Simonetti, F.; Bernardina, B.D.; Santorelli, F.M.; Rizzuto, N.. "A CLN2 gene
nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL". Neuropediatrics 31 4 (2000): 199-201.
http://www.scopus.com/inward/record.url?eid=2-s2.0-0033780220&partnerID=MN8TOARS.
10.1055/s-2000-7453
- De Joanna, G.; Santorelli, F.M.; Casali, C.; Brescia-Morra, V.; Perretti, A.; Santoro, L.. "Combination of mtDNA mutations
in a patient with a mitochondrial multisystem syndrome". Journal of Human Genetics 45 2 (2000): 109-111. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034095466&partnerID=MN8TOARS.
10.1007/s100380050025
- Santorelli, F.M.; Piemonte, F.; Carrozzo, R.; Tessa, A.; Patrono, C.; Tozzi, G.; Bertini, E.. "OXPHOS and mtDNA alterations
in a family with spastic paraparesis". Acta Neurologica Scandinavica 101 4 (2000): 255-258. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034060130&partnerID=MN8TOARS.
10.1034/j.1600-0404.2000.101004255.x
- Patrono, C.; Rizzo, C.; Tessa, A.; Giannotti, A.; Borrelli, P.; Carrozzo, R.; Piemonte, F.; et al. "Novel 7-DHCR mutation
in a child with Smith-Lemli-Opitz syndrome". American Journal of Medical Genetics 91 2 (2000): 138-140. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034098984&partnerID=MN8TOARS.
10.1002/(SICI)1096-8628(20000313)91:2<138::AID-AJMG12>3.0.CO;2-Q
- Carrozzo, R; Murray, J; Capuano, O; Tessa, A; Chichierchia, G; Neglia, MR; Capaldi, RA; Santorelli, FM. "A novel mtDNA mutation
in the ATPase6 gene studied by E-Coli modeling". Neurological Sciences (2000): https://publons.com/wos-op/publon/11827408/.
10.1007/S100720070016
- Casali, C; Bertini, E; Carrozzo, R; Fortini, D; Piemonte, F; Siciliano, G; Di Capua, M; et al. "Clinical, morphological, and
molecular investigations in Italian families with Hereditary Spastic Paraplegias". Neurology (2000): https://publons.com/wos-op/publon/9935736/.
- Bertini, E; des Portes, V; Zanni, G; Santorelli, F; Dionisi-Vici, C; Vicari, S; Fariello, G; Chelly, J. "X-linked congenital
ataxia: A clinical and genetic study". American Journal of Medical Genetics (2000): https://publons.com/wos-op/publon/7508886/.
10.1002/(SICI)1096-8628(20000501)92:1<53::AID-AJMG9>3.3.CO;2-6
- Tessa, A; Manca, ML; Mancuso, M; Renna, MR; Murri, L; Martini, B; Santorelli, FM; Siciliano, G. "Abnormal H-Team in a patient
harboring a single mtDNA deletion". Functional Neurology (2000): https://publons.com/wos-op/publon/9935739/.
- Patrono, C; Cricchi, F; Fortini, D; Tessa, A; Tozzi, G; Piemonte, F; Carrozzo, R; et al. "Hereditary spastic paraplegias in
Italian families: Clinical and molecular investigations". The American Journal of Human Genetics (2000): https://publons.com/wos-op/publon/3617068/.
- Fortini, D; Comanducci, G; Martini, B; Grieco, GS; Costa, A; Buzzi, MG; Nappi, G; Casali, C; Santorelli, FM. "The mtDNA A3243G
mutation is not frequent in Migraineurs". Confinia Cephalalgica (2000): https://publons.com/wos-op/publon/9860565/.
- Giannotti, Aldo; Tessa, Alessandra; Patrono, Clarice; De Florio, Lucia; Velardo, Margherita; Dionisi-Vici, Carlo; Bertini,
Enrico; Santorelli, Filippo M.. "A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia". Human
Mutation (2000): https://publons.com/wos-op/publon/7508850/.
10.1002/1098-1004(200009)16:3<277::AID-HUMU24>3.0.CO;2-Y
- Carrozzo, R; Tessa, A; Piemonte, F; Chichierchia, G; Patrono, C; Capuano, O; Dionisi-Vici, C; Bertini, E; Santorelli, FM.
"A novel mtDNA mutation (T9176G) hampers ATP production and results in Leigh syndrome". The American Journal of Human Genetics
(2000): https://publons.com/wos-op/publon/11824338/.
- Casali, C.; D'Amati, G.; Bernucci, P.; DeBiase, L.; Autore, C.; Santorelli, F.M.; Coviello, D.; Gallo, P.. "Maternally inherited
cardiomyopathy: Clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial
deoxyribonucleic acid". Journal of the American College of Cardiology 33 6 (1999): 1584-1589. http://www.scopus.com/inward/record.url?eid=2-s2.0-0033133413&partnerID=MN8TOARS.
10.1016/S0735-1097(99)00079-0
- Vilarinho, L.; Chorão, R.; Cardoso, M.L.; Rocha, H.; Nogueira, C.; Santorelli, F.M.. "The ND1 T3308C mutation may be a mtDNA
polymorphism. Report of two Portuguese patients". Journal of Inherited Metabolic Disease 22 1 (1999): 90-91. http://www.scopus.com/inward/record.url?eid=2-s2.0-0033027627&partnerID=MN8TOARS.
10.1023/A:1005471904710
- Santorelli, F.M.; Bertini, E.. "Mitochondrial cardiomyopathies: The need for a multidisciplinary approach,Diagnosi di cardiomiopatia
mitocondriale: Necessita di un approccio multidisciplinare". Giornale Italiano di Cardiologia 29 10 (1999): 1181-1183.
http://www.scopus.com/inward/record.url?eid=2-s2.0-0032745993&partnerID=MN8TOARS.
- Villanova, M.; Selvi, E.; Malandrini, A.; Casali, C.; Santorelli, F.M.; De Stefano, R.; Marcolongo, R.. "Mitochondrial myopathy
mimicking fibromyalgia syndrome [3]". Muscle and Nerve 22 2 (1999): 289-291. http://www.scopus.com/inward/record.url?eid=2-s2.0-0032909281&partnerID=MN8TOARS.
10.1002/(SICI)1097-4598(199902)22:2<289::AID-MUS26>3.0.CO;2-O
- Bruno, C.; Kirby, D.M.; Koga, Y.; Garavaglia, B.; Duran, G.; Santorelli, F.M.; Shield, L.K.; et al. "The mitochondrial DNA
C3303T mutation can cause cardiomyopathy and/or skeletal myopathy". Journal of Pediatrics 135 2 I (1999): 197-202.
http://www.scopus.com/inward/record.url?eid=2-s2.0-0033503930&partnerID=MN8TOARS.
10.1016/S0022-3476(99)70022-3
- Casali, C.; Fabrizi, G.M.; Santorelli, F.M.; Colazza, G.; Villanova, M.; Dotti, M.T.; Cavallaro, T.; et al. "Mitochondrial
G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family". Neurology 52 5 (1999): 1103-1104.
http://www.scopus.com/inward/record.url?eid=2-s2.0-0033596843&partnerID=MN8TOARS.
10.1212/wnl.52.5.1103
- Santorelli, F.M.; Tanji, K.; Manta, P.; Casali, C.; Krishna, S.; Hays, A.P.; Mancini, D.M.; DiMauro, S.; Hirano, M.. "Maternally
inherited cardiomyopathy: An atypical presentation of the mtDNA 12S rRNA gene A1555G mutation [3]". American Journal of
Human Genetics 64 1 (1999): 295-300. http://www.scopus.com/inward/record.url?eid=2-s2.0-0033366515&partnerID=MN8TOARS.
10.1086/302188
- Mancuso, M.; Bianchi, M.C.; Santorelli, F.M.; Tessa, A.; Casali, C.; Murri, L.; Siciliano, G.. "Encephalomyopathy with multiple
mitochondrial DNA deletions and multiple symmetric lipomatosis: Further evidence of a possible association [2]". Journal
of Neurology 246 12 (1999): 1197-1198. http://www.scopus.com/inward/record.url?eid=2-s2.0-0033376479&partnerID=MN8TOARS.
10.1007/s004150050543
- Villanova, M.; Ceuterick, C.; Dotti, M.T.; Santorelli, F.M.; Casali, C.; Malandrini, A.; De Stefano, N.; et al. "Detection
of ß-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjogren)".
Acta Neuropathologica 98 1 (1999): 78-84. http://www.scopus.com/inward/record.url?eid=2-s2.0-0033043535&partnerID=MN8TOARS.
10.1007/s004010051053
- Damore, M.E.; Speiser, P.W.; Slonim, A.E.; New, M.I.; Shanske, S.; Xia, W.; Santorelli, F.M.; DiMauro, S.. "Early onset of
diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: Patient report and literature review". Journal
of Pediatric Endocrinology and Metabolism 12 2 (1999): 207-213. http://www.scopus.com/inward/record.url?eid=2-s2.0-0032914642&partnerID=MN8TOARS.
10.1515/JPEM.1999.12.2.207
- Tessa, A.; Vilarinho, L.; Casali, C.; Santorelli, F.M.. "MtDNA-related idiopathic dilated cardiomyopathy [1]". European
Journal of Human Genetics 7 8 (1999): 847-848. http://www.scopus.com/inward/record.url?eid=2-s2.0-0033378668&partnerID=MN8TOARS.
10.1038/sj.ejhg.5200380
- Rocha, H.; Flores, C.; Campos, Y.; Arenas, J.; Vilarinho, L.; Santorelli, F.M.; Torroni, A.. "About the 'pathological' role
of the mtDNA T3308C mutation... [1]". American Journal of Human Genetics 65 5 (1999): 1457-1459. http://www.scopus.com/inward/record.url?eid=2-s2.0-0033364959&partnerID=MN8TOARS.
10.1086/302641
- Arenas, J.; Campos, Y.; Bornstein, B.; Ribacoba, R.; Martín, M.A.; Rubio, J.C.; Santorelli, F.M.; et al. "A double mutation
(A8296G and G8363A) in the mitochondrial DNA tRNA(Lys) gene associated with myoclonus epilepsy with ragged-red fibers". Neurology
52 2 (1999): 377-382. http://www.scopus.com/inward/record.url?eid=2-s2.0-0033556362&partnerID=MN8TOARS.
10.1212/wnl.52.2.377
- Vilarinho, L.; Santorelli, F.M.; Coelho, I.; Rodrigues, L.; Maia, M.; Barata, I.; Cabral, P.; et al. "The mitochondrial DNA
A3243G mutation in Portugal: Clinical and molecular studies in 5 families". Journal of the Neurological Sciences 163
2 (1999): 168-174. http://www.scopus.com/inward/record.url?eid=2-s2.0-0033104051&partnerID=MN8TOARS.
10.1016/S0022-510X(99)00030-1
- Casali, C; Di Gennaro, G; Costa, A; Santorelli, FM; Buzzi, MG; Ciccarelli, O; Fortini, D; et al. "The mitochondrial A3243G
mutation in maternally inherited migraine without aura". Cephalalgia (1999): https://publons.com/wos-op/publon/9860591/.
- Carrozzo, R; Piemonte, F; Casali, C; Tozzi, G; Patrono, C; Tessa, A; Bertini, E; Santorelli, FM. "Respiratory-chain enzyme
activities in muscle from HSP patients". The American Journal of Human Genetics (1999): https://publons.com/wos-op/publon/3617034/.
- Buzzi, MG; Di Gennaro, G; D'Onofrio, M; Ciccarelli, O; Santorelli, FM; Fortini, D; Pierelli, F; et al. "A3243G melas mutation
in migraine with aura (MwoA) and in three-generation female migraine without aura (MwoA)". Cephalalgia (1999): https://publons.com/wos-op/publon/10990772/.
- Santorelli, FM; Vici, CD; Giannotti, A; Bertini, E; Rizzo, C; Patrono, C; Tessa, A; Piemonte, F; Carrozzo, R. "A novel 7-DHCR
mutation in a Lebanese child with Smith-Lemli-Opitz syndrome". Atherosclerosis (1999): https://publons.com/wos-op/publon/11824342/.
10.1016/S0021-9150(99)80079-3
- Bertini, E; Santorelli, FM; Verardo, M; Dionisi-Vici, C; Piemonte, F; Gagliardi, MG. "Skeletal muscle involvement in dilated
cardiomyopathy. Which is the role of skeletal muscle biopsy?". Xxi Congress of the European Society of Cardiology (1999):
https://publons.com/wos-op/publon/11824341/.
- Bruno, C.; Minetti, C.; Tang, Y.; Magalhães, P.J.; Santorelli, F.M.; Shanske, S.; Bado, M.; et al. "Primary adrenal insufficiency
in a child with a mitochondrial DNA deletion". Journal of Inherited Metabolic Disease 21 2 (1998): 155-161. http://www.scopus.com/inward/record.url?eid=2-s2.0-6844258202&partnerID=MN8TOARS.
10.1023/A:1005347826664
- Blumenthal, D.T.; Shanske, S.; Schochet, S.S.; Santorelli, F.M.; Dimauro, S.; Jaynesm, M.; Bodensteiner, J.. "Myoclonus epilepsy
with ragged red fibers and multiple mtDNA deletions". Neurology 50 2 (1998): 524-525. http://www.scopus.com/inward/record.url?eid=2-s2.0-0031935230&partnerID=MN8TOARS.
10.1212/WNL.50.2.524
- Santorelli, F.M.; Casali, C.. "Genetic heterogeneity of myoclonus epilepsy with ragged-red fibers syndrome.". Muscle &
nerve 21 5 (1998): 681-682. http://www.scopus.com/inward/record.url?eid=2-s2.0-0032063444&partnerID=MN8TOARS.
10.1002/(SICI)1097-4598(199805)21:5<681::AID-MUS27>3.0.CO;2-X
- Santorelli, F.M.; Tanji, K.; Shanske, S.; Krishna, S.; Schmidt, R.E.; Greenwood, R.S.; DiMauro, S.; De Vivo, D.C.. "The mitochondrial
DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: Revisiting the past". Annals
of Neurology 44 6 (1998): 962-964. http://www.scopus.com/inward/record.url?eid=2-s2.0-0031769033&partnerID=MN8TOARS.
10.1002/ana.410440616
- Casali, C.; Santorelli, F.M.; Spadaro, M.; Pierelli, F.. "Genetic aspects of migraine syndromes: A review,Aspetti genetici
delle sindromi emicraniche: Una review". Confinia Cephalalgica 7 2 (1998): 79-90. http://www.scopus.com/inward/record.url?eid=2-s2.0-0031712154&partnerID=MN8TOARS.
- Casali, C.; Santorelli, F.M.; Petrucci, B.; Malandrini, A.; Villanova, M.; Fortini, D.; Damiano, M.; Guazzi, G.; Morocutti,
C.. "Clinical and molecular studies in a patient with atypical leigh syndrome". Nuova Rivista di Neurologia 8 6 (1998):
http://www.scopus.com/inward/record.url?eid=2-s2.0-0040810963&partnerID=MN8TOARS.
- Boldrini, R.; Fusco, L.; Francalanci, P.; Devito, R.; Massazza, G.; Santorelli, F.; Bertini, E.; Bosman, C.. "Le ceroidolipofuscinosi
neuronali. Studio clinico, genetico ed ultrastrutturale". Pathologica 90 5 (1998): 643-644. http://www.scopus.com/inward/record.url?eid=2-s2.0-2542589580&partnerID=MN8TOARS.
- Vilarinho, L.; Santorelli, F.M.; Cardoso, M.L.; Coelho, T.; Guimarães, A.; Coutinho, P.. "Mitochondrial DNA analysis in ocular
myopathy. Observations in 29 Portuguese patients". European Neurology 39 3 (1998): 148-153. http://www.scopus.com/inward/record.url?eid=2-s2.0-0031965836&partnerID=MN8TOARS.
10.1159/000007925
- Santorelli, F.M.; Bertini, E.; Petruzzella, V.; Capua, M.D.; Calvieri, S.; Gasparini, P.; Zeviani, M.. "A novel insertion
mutation (A(169i)) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient". Biochemical
and Biophysical Research Communications 245 2 (1998): 519-522. http://www.scopus.com/inward/record.url?eid=2-s2.0-0032540131&partnerID=MN8TOARS.
10.1006/bbrc.1998.8484
- Carrozzo, R.; Hirano, M.; Fromenty, B.; Casali, C.; Santorelli, F.M.; Bonilla, E.; Dimauro, S.; Schon, E.A.; Miranda, A.F..
"Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses". Neurology
50 1 (1998): 99-106. http://www.scopus.com/inward/record.url?eid=2-s2.0-0031882208&partnerID=MN8TOARS.
10.1212/WNL.50.1.99
- Vázquez-Memije, M.E.; Shanske, S.; Santorelli, F.M.; Kranz-Eble, P.; Devivo, D.C.; Dimauro, S.. "Comparative biochemical studies
of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutations". Journal of Inherited Metabolic
Disease 21 8 (1998): 829-836. http://www.scopus.com/inward/record.url?eid=2-s2.0-0031738945&partnerID=MN8TOARS.
10.1023/A:1005418718299
- Santorelli, FM; Bruno, C; Casali, C; Shanske, S; Hirano, M; DiMauro, S. "The rising role of mtDNA mutations in lethal infantile
cardiomyopathies". European Journal of Human Genetics (1998): https://publons.com/wos-op/publon/25907317/.
- Vilarinho, L; Santorelli, FM; Coelho, I; Rodrigues, L; Maia, C; Cabral, P; Dionisio, A; Guimaraes, A; DiMauro, S. "Mitochondrial
encephalopathy, lactic acidosis and stroke-like episodes in Portugal: evidences for clinical heterogeneity". European Journal
of Human Genetics (1998): https://publons.com/wos-op/publon/53772792/.
- Pons, R; Vilarinho, L; Bruno, C; Shanske, S; Santorelli, FM. "Energy metabolism defects in sudden infantile death". European
Journal of Human Genetics (1998): https://publons.com/wos-op/publon/25907316/.
- Santorelli, FM; Carrozzo, R; Petruzzella, V; Zeviani, M; Bertini, ES. "Clinical and molecular characterization of a novel
INCL mutation in an Italian patient". European Journal of Human Genetics (1998): https://publons.com/wos-op/publon/11827388/.
- De Joanna, G; Casali, C; Santoro, L; Perretti, A; Santorelli, FM. "Atypical clinical and molecular presentation of the mtDNA
A3243G mutation". European Journal of Human Genetics (1998): https://publons.com/wos-op/publon/53772793/.
- Casali, C; Santorelli, FM; Spadaro, M; Pierelli, F. "Genetic aspects of migraine syndromes: a review". Confinia Cephalalgica
(1998): https://publons.com/wos-op/publon/53772796/.
- Carrozzo, R; Santoro, L; Casali, C; Santorelli, FM. "Clinical and molecular correlations in progressive external ophthalmoparesis
with multiple mtDNA deletions". European Journal of Human Genetics (1998): https://publons.com/wos-op/publon/11827389/.
- Santorelli, F.M.; Tanji, K.; Sano, M.; Shanske, S.; El-Shahawi, M.; Kranz-Eble, P.; DiMauro, S.; De Vivo, D.C.. "Maternally
inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNA(Trp) gene". Annals of Neurology
42 2 (1997): 256-260. http://www.scopus.com/inward/record.url?eid=2-s2.0-0030746382&partnerID=MN8TOARS.
10.1002/ana.410420220
- Vilarinho, L.; Santorelli, F.M.; Rosas, M.J.; Tavares, C.; Melo-Pires, M.; DiMauro, S.. "The mitochondrial A3243G mutation
presenting as severe cardiomyopathy". Journal of Medical Genetics 34 7 (1997): 607-609. http://www.scopus.com/inward/record.url?eid=2-s2.0-0030745837&partnerID=MN8TOARS.
10.1136/jmg.34.7.607
- Sobreira, C.; Hirano, M.; Shanske, S.; Keller, R.K.; Haller, R.G.; Davidson, E.; Santorelli, F.M.; et al. "Mitochondrial encephalomyopathy
with coenzyme Q10 deficiency". Neurology 48 5 (1997): 1238-1243. http://www.scopus.com/inward/record.url?eid=2-s2.0-0030975555&partnerID=MN8TOARS.
10.1212/WNL.48.5.1238
- Casali, C.; Santorelli, F.M.; Colazza, G.; Di Gennaro, G.; Tolli, V.S.; Onesti, M.G.; Costantini, M.; Scoppetta, C.; Spadaro,
M.. "Multiple symmetrical lipomatosis in mitochondrial disorders". Italian Journal of Neurological Sciences 18 4 (1997):
109-109. http://www.scopus.com/inward/record.url?eid=2-s2.0-33746351083&partnerID=MN8TOARS.
- Casali, C.; Santorelli, F.M.; Bruno, C.; Fortini, D.; Damiano, M.; D'Amati, G.; Spadaro, M.. "Familial cardiomyopathies associated
to mitochondrial dna mutations: report of two families". Italian Journal of Neurological Sciences 18 4 (1997): 61-61.
http://www.scopus.com/inward/record.url?eid=2-s2.0-33746368413&partnerID=MN8TOARS.
- Casali, C.; Fabrizi, G.M.; Santorelli, F.M.; Colazza, G.B.; Di Gennaro, G.; Cardaioli, E.; Dotti, M.T.; et al. "G8363A mutation
in trnalys in mtdna: report of the first italian family". Italian Journal of Neurological Sciences 18 4
(1997): 25-25. http://www.scopus.com/inward/record.url?eid=2-s2.0-33746344055&partnerID=MN8TOARS.
- Casali, C.; Santorelli, F.M.; Ella, M.; Azan, G.; Carrozzo, R.; Toll, V.S.; Spadaro, M.; Morocutti, C.. "Late-onset cox deficiency
with variable clinical expression in a family: mtdna or ndna defect?". Italian Journal of Neurological Sciences 18
4 (1997): 110-110. http://www.scopus.com/inward/record.url?eid=2-s2.0-33746350786&partnerID=MN8TOARS.
- Santorelli, F; Bertini, E; Petruzzella, V; DiCapua, M; Gasparini, P; Zeviani, M. "Identification of a novel mutation of the
CNL1 gene leading to infantile neuronal ceroid lipofuscinosis in an Italian patient". The American Journal of Human Genetics
(1997): https://publons.com/publon/27130199/.
- Santorelli, F.M.; Tanji, K.; Shanske, S.; DiMauro, S.. "Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation".
Neurology 49 1 (1997): 270-273. http://www.scopus.com/inward/record.url?eid=2-s2.0-0030818636&partnerID=MN8TOARS.
10.1212/WNL.49.1.270
- Whittier, S; Olivier, K; Gilligan, P; Knowles, M; DellaLatta, P; BesserWeik, J; Charache, P; et al. "Proficiency testing of
clinical microbiology laboratories using modified decontamination procedures for detection of nontuberculous mycobacteria
in sputum samples from cystic fibrosis patients". Journal of Clinical Microbiology (1997): https://publons.com/publon/35711449/.
10.1128/JCM.35.10.2706-2708.1997
- Santorelli, F.M.; Tanji, K.; Kulikova, R.; Shanske, S.; Vilarinho, L.; Hays, A.P.; DiMauro, S.. "Identification of a novel
mutation in the mtDNA ND5 gene associated with MELAS". Biochemical and Biophysical Research Communications 238 2 (1997):
326-328. http://www.scopus.com/inward/record.url?eid=2-s2.0-0031577593&partnerID=MN8TOARS.
10.1006/bbrc.1997.7167
- Santorelli, F.M.; Siciliano, G.; Casali, C.; Basirico, M.G.; Carrozzo, R.; Calvosa, F.; Sartucci, F.; et al. "Mitochondrial
tRNA(Cys) gene mutation (A5814G): A second family with mitochondrial encephalopathy". Neuromuscular Disorders 7 3 (1997):
156-159. http://www.scopus.com/inward/record.url?eid=2-s2.0-0030920721&partnerID=MN8TOARS.
10.1016/S0960-8966(97)00444-6
- Santorelli, FM; Hirano, M; Shanske, S; Tanji, K; Bonilla, E; Silvestri, G; Ciafaloni, E; Tonin, P; DiMauro, S. "Clinical,
biochemical, and genetic features of patients with multiple mtDNA deletions". Neurology (1997): https://publons.com/wos-op/publon/51085683/.
- Shanske, S; Santorelli, FM; Hirano, M; DiMauro, S. "Mitochondrial DNA mutations in sudden infant death syndrome". Neurology
(1997): https://publons.com/wos-op/publon/53772786/.
- Manfredi, G; VazquezMemije, ME; Sadlock, J; Santorelli, FM; DeVivo, DC; Schon, EA. "Increased sensitivity to oligomycin of
fibroblasts harboring the mtDNA T8993G (NARP/MILS) mutation". Neurology (1997): https://publons.com/wos-op/publon/53772787/.
- Vilarinho, L; Maia, C; Coelho, T; Coutinho, P; Santorelli, FM. "Heterogeneous presentation in Leigh syndrome". Journal
of Inherited Metabolic Disease (1997): https://publons.com/wos-op/publon/11578983/.
10.1023/A:1005330611147
- Di Gennaro, G; Santorelli, FM; Tolli, VS; Scoppetta, C; Pierelli, C; Spadaro, M; Casali, C. "Multiple symmetrical lipomatosis
in mitochondrial disorders". The American Journal of Human Genetics (1997): https://publons.com/wos-op/publon/33142904/.
- Santorelli, F.M.; Mak, S.-C.; El-Schahawi, M.; Casali, C.; Shanske, S.; Baram, T.Z.; Madrid, R.E.; DiMauro, S.. "Maternally
inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNALys Gene (G8363A)".
American Journal of Human Genetics 58 5 (1996): 933-939. http://www.scopus.com/inward/record.url?eid=2-s2.0-0029962873&partnerID=MN8TOARS.
- Santorelli, F.M.; Sciacco, M.; Tanji, K.; Shanske, S.; Vu, T.H.; Golzi, V.; Griggs, R.C.; et al. "Multiple mitochondrial DNA
deletions in sporadic inclusion body myositis: A study of 56 patients". Annals of Neurology 39 6 (1996): 789-795. http://www.scopus.com/inward/record.url?eid=2-s2.0-8944243541&partnerID=MN8TOARS.
10.1002/ana.410390615
- Santorelli, F.M.; Mak, S.-C.; Vazquez-Memije, M.E.; Shanske, S.; Kranz-Eble, P.; Jain, K.D.; Bluestone, D.L.; De Vivo, D.C.;
DiMauro, S.. "Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation". Pediatric Research
39 5 (1996): 914-917. http://www.scopus.com/inward/record.url?eid=2-s2.0-0029877629&partnerID=MN8TOARS.
10.1203/00006450-199605000-00028
- Santorelli, F.M.; Barmada, M.A.; Pons, R.; Zhang, L.L.; DiMauro, S.. "Leigh-type neuropathology in Pearson syndrome associated
with impaired ATP production and a novel mtDNA deletion". Neurology 47 5 (1996): 1320-1323. http://www.scopus.com/inward/record.url?eid=2-s2.0-0029854881&partnerID=MN8TOARS.
10.1212/WNL.47.5.1320
- Bohlega, S.; Tanji, K.; Santorelli, F.M.; Hirano, M.; Al-Jishi, A.; DiMauro, S.. "Multiple mitochondrial DNA deletions associated
with autosomal recessive ophthalmoplegia and severe cardiomyopathy". Neurology 46 5 (1996): 1329-1334. http://www.scopus.com/inward/record.url?eid=2-s2.0-0029996721&partnerID=MN8TOARS.
10.1212/wnl.46.5.1329
- Vazquez-Memije, M.E.; Shanske, S.; Santorelli, F.M.; Kranz-Eble, P.; Davidson, E.; DeVivo, D.C.; DiMauro, S.. "Comparative
biochemical studies in fibroblasts from patients with different forms of Leigh syndrome". Journal of Inherited Metabolic
Disease 19 1 (1996): 43-50. http://www.scopus.com/inward/record.url?eid=2-s2.0-0029919608&partnerID=MN8TOARS.
10.1007/BF01799347
- Santorelli, F.M.; Schlessel, J.S.; Slonim, A.E.; DiMauro, S.. "Novel mutation in the mitochondrial DNA tRNA glycine gene associated
with sudden unexpected death". Pediatric Neurology 15 2 (1996): 145-149. http://www.scopus.com/inward/record.url?eid=2-s2.0-0030249144&partnerID=MN8TOARS.
10.1016/0887-8994(96)00163-4
- Calvosa, F.; Santorelli, F.M.; Ricci, G.; D'Amati, G.; Casali, C.. "Aspetti clinici e genetico molecolari delle cardiomiopatie
mitocondriali. Necessità di un approccio multispecialistico". Nuova Rivista di Neurologia 6 5 (1996): http://www.scopus.com/inward/record.url?eid=2-s2.0-4043050996&partnerID=MN8TOARS.
- Santorelli, FM; DiMauro, S; Tanji, K; Casali, C; Addonizio, L; Mancini, D; Hirano, M. "Maternally inherited cardiomyopathy:
An atypical clinical presentation of the mitochondrial DNA A1555G mutation". Neurology (1996): https://publons.com/wos-op/publon/53772781/.
- Santorelli, FM; Mak, SC; ElSchahawi, M; Casali, C; Shanske, S; Baram, TZ; Madrid, RE; DiMauro, S. "Maternally inherited cardiomyopathy
and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A)". The American Journal of
Human Genetics (1996): https://publons.com/wos-op/publon/12430203/.
- DAmati, G; Casali, C; Santorelli, FM; Gallo, P; DiMauro, S; DeBiase, L; Laurenti, A; Bernucci, P. "Novel mtdna point mutation
in maternally inherited cardiomyopathy". Laboratory Investigation (1996): https://publons.com/wos-op/publon/19461527/.
- Thyagarajan, D; Santorelli, FM; Fromenty, B; Shanske, S; DeVivo, D; DiMauro, S. "The variety and frequency of mtDNA abnormalities
in Leigh syndrome". Neurology (1996): https://publons.com/wos-op/publon/12317355/.
- Carrozzo, R; Fromenty, B; Casali, C; Santorelli, FM; Hirano, M; DiMauro, S; Schon, EA; Miranda, AF. "Multiple mitochondrial
DNA rearrangements in mitochondrial diseases". Neurology (1996): https://publons.com/wos-op/publon/11827402/.
- Shanske, S; Hirano, M; Santorelli, FM; Kulikova, R; Xia, W; DeVivo, DC; DiMauro, S. "Clinical spectrum in 75 patients with
the MELAS A3243G mitochondrial DNA mutation". Neurology (1996): https://publons.com/wos-op/publon/53772780/.
- Casali, C.; Santorelli, F.M.; D’amati, G.; Bernucci, P.; Debiase, L.; DiMauro, S.. "A novel mtDNA point mutation in maternally
inherited cardiomyopathy". Biochemical and Biophysical Research Communications 213 2 (1995): 588-593. http://www.scopus.com/inward/record.url?eid=2-s2.0-0029116474&partnerID=MN8TOARS.
10.1006/bbrc.1995.2172
- Santorelli, F.M.; Mak, S.-C.; Vázquez-Acevedo, M.; González-Astiazarán, A.; Ridaura-Sanz, C.; González-Halphen, D.; DiMauro,
S.. "A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy". Biochemical and Biophysical
Research Communications 216 3 (1995): 835-840. http://www.scopus.com/inward/record.url?eid=2-s2.0-0028786838&partnerID=MN8TOARS.
10.1006/bbrc.1995.2697
- SCHLESSEL, JS; SANTORELLI, FM; SHANSKE, S; SLONIM, AE; RAPPA, HA; DIMAURO, S. "SUDDEN AND UNEXPECTED DEATH ASSOCIATED WITH
A NEWLY RECOGNIZED MITOCHONDRIAL-DNA MUTATION". Pediatric Research (1995): https://publons.com/wos-op/publon/53772777/.
- SANTORELLI, FM; MAK, B; THYAGARAJAN, D; SHANSKE, S; KRANZEBLE, P; DEVIVO, DC; DIMAURO, S. "CLINICAL HETEROGENEITY OF THE NT-8993
POINT MUTATIONS IN THE MITOCHONDRIAL-DNA". Neurology (1995): https://publons.com/wos-op/publon/12317360/.
- SANTORELLI, FM; ELSHAHAWI, M; SHANSKE, S; CASALI, C; BARAM, TZ; MADRID, RE; DIMAURO, S. "A NOVEL MTDNA MUTATION ASSOCIATED
WITH HUMAN CARDIOMYOPATHY". Circulation (1995): https://publons.com/wos-op/publon/52100021/.
- VAZQUERMEMIJE, ME; SHANSKE, S; SANTORELLI, FM; KRANZEBLE, P; DEVIVO, DC; DIMAURO, S. "COMPARATIVE BIOCHEMICAL-STUDIES IN CELLS
FROM PATIENTS WITH MUTATIONS IN THE ATPASE 6 GENE OF MITOCHONDRIAL-DNA". Neurology (1995): https://publons.com/wos-op/publon/53772776/.
- ELSCHAHAWI, M; SANTORELLI, FM; SHANSKE, S; DEMUNAIN, L; DIMAURO, S. "A FAMILY WITH MATERNALLY INHERITED DEAFNESS AND THE MTDNA
MUTATION AT NP-1555 IN THE 12S RIBOSOMAL-RNA GENE". Neurology (1995): https://publons.com/wos-op/publon/53772775/.
- OBERHELMAN, RA; HUMBERT, JR; SANTORELLI, FW. "PSEUDOMONAS VESICULARIS CAUSING BACTEREMIA IN A CHILD WITH SICKLE-CELL-ANEMIA".
Southern Medical Journal (1994): https://publons.com/publon/35711443/.
10.1097/00007611-199408000-00012
- Silvestri, G.; Santorelli, F.M.; Shanske, S.; Whitley, C.B.; Schimmenti, L.A.; Smith, S.A.; DiMauro, S.. "A new mtDNA mutation
in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy". Human Mutation 3 1 (1994):
37-43. http://www.scopus.com/inward/record.url?eid=2-s2.0-0028012201&partnerID=MN8TOARS.
10.1002/humu.1380030107
- Santorelli, F.M.; Shanske, S.; Jain, K.D.; Tick, D.; Schon, E.A.; DiMauro, S.. "A T ¿ C mutation at nt 8993 of mitochondrial
DNA in a child with Leigh syndrome". Neurology 44 5 (1994): 972-974. http://www.scopus.com/inward/record.url?eid=2-s2.0-0028182912&partnerID=MN8TOARS.
10.1212/wnl.44.5.972
- Pastores, G.M.; Santorelli, F.M.; Shanske, S.; Gelb, B.D.; Fyfe, B.; Wolfe, D.; Willner, J.P.. "Leigh syndrome and hypertrophic
cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G)". American Journal of Medical Genetics
50 3 (1994): 265-271. http://www.scopus.com/inward/record.url?eid=2-s2.0-0028355321&partnerID=MN8TOARS.
10.1002/ajmg.1320500310
- SANTORELLI, FM; SCIACCO, M; SHANSKE, S; GRIGGS, RC; MENDELL, JR; BONILLA, E; DIMAURO, S. "MITOCHONDRIAL-DNA DELETIONS IN PATIENTS
WITH INCLUSION-BODY MYOSITIS". Neurology (1994): https://publons.com/wos-op/publon/51126378/.
- VAZQUEZMEMIJE, ME; SANTORELLI, FM; SHANSKE, S; KRANZEBLE, P; DEVIVO, DC; DIMAURO, S. "ATP SYNTHESIS IN FIBROBLASTS FROM PATIENTS
WITH MATERNALLY INHERITED LEIGH-SYNDROME". Neurology (1994): https://publons.com/wos-op/publon/53772772/.
- Filla, A.; de Michele, G.; Orefice, G.; Santarelli, F.; Trombetta, L.; Banfi, S.; Squitieri, F.; et al. "A Double-Blind Cross-over
Trial of Amantadine Hydrochloride in Friedreich's Ataxia". Canadian Journal of Neurological Sciences / Journal Canadien
des Sciences Neurologiques 20 1 (1993): 52-55. http://www.scopus.com/inward/record.url?eid=2-s2.0-0027511305&partnerID=MN8TOARS.
10.1017/S0317167100047417
- Santorelli, F.M.; Shanske, S.; Macaya, A.; DeVivo, D.C.; DiMauro, S.. "The mutation at nt 8993 of mitochondrial DNA is a common
cause of Leigh's syndrome". Annals of Neurology 34 6 (1993): 827-834. http://www.scopus.com/inward/record.url?eid=2-s2.0-0027451284&partnerID=MN8TOARS.
10.1002/ana.410340612
- Ciafaloni, E.; Santorelli, F.M.; Shanske, S.; Deonna, T.; Roulel, E.; Janzer, C.; Pescia, G.; DiMauro, S.. "Maternally inherited
Leigh syndrome". The Journal of Pediatrics 122 3 (1993): 419-422. http://www.scopus.com/inward/record.url?eid=2-s2.0-0027526490&partnerID=MN8TOARS.
10.1016/S0022-3476(05)83431-6
- Silvestri, G.; Ciafaloni, E.; Santorelli, F.M.; Shanske, S.; Servidei, S.; Graf, W.D.; Sumi, M.; Dimauro, S.. "Clinical features
associated with the a ¿ g transition at nucleotide 8344 of mtdna (“merrf mutation”)". Neurology 43 6 (1993): 1200-1206.
http://www.scopus.com/inward/record.url?eid=2-s2.0-0027190874&partnerID=MN8TOARS.
10.1212/wnl.43.6.1200
- SANTORELLI, FM; SHANSKE, S; JAIN, KD; TICK, D; DIMAURO, S. "A NEW MTDNA MUTATION IN THE ATPASE-6 GENE IN A CHILD WITH LEIGH
SYNDROME". Neurology (1993): https://publons.com/wos-op/publon/53772770/.
- Filla, A.; De Michele, G.; Cavalcanti, F.; Santorelli, F.; Santoro, L.; Campanella, G.. "Intrafamilial phenotype variation
in Friedreich's disease: possible exceptions to diagnostic criteria". Journal of Neurology 238 3 (1991): 147-150. http://www.scopus.com/inward/record.url?eid=2-s2.0-0025736437&partnerID=MN8TOARS.
10.1007/BF00319681
- Michele, G.D.; Filla, A.; Coppola, N.; Bisogno, A.; Trombetta, L.; Santorelli, F.; Campanella, G.. "Influence of age, gender,
height and education on vibration sense. A study by tuning fork in 192 normal subjects". Journal of the Neurological Sciences
105 2 (1991): 155-158. http://www.scopus.com/inward/record.url?eid=2-s2.0-0026055190&partnerID=MN8TOARS.
10.1016/0022-510X(91)90139-X
- Filla, A.; De Michele, G.; Santorelli, F.; D'Arienzo, G.; Mengano, A.; Cavalcanti, F.; Campanella, G.. "Effects of 1-methyl-4-phenylpiridinium
ion on mitochondrial metabolism in frog brain". Medical Science Research 18 10 (1990): 415-416. http://www.scopus.com/inward/record.url?eid=2-s2.0-0025354844&partnerID=MN8TOARS.
- De Michele, G.; Filla, A.; Barbieri, F.; Perretti, A.; Santoro, L.; Trombetta, L.; Santorelli, F.; Campanella, G.. "Late onset
recessive ataxia with Friedreich's disease phenotype". Journal of Neurology Neurosurgery and Psychiatry 52 12 (1989):
1398-1401. http://www.scopus.com/inward/record.url?eid=2-s2.0-0024810893&partnerID=MN8TOARS.
10.1136/jnnp.52.12.1398
- Filla, A.; De Michele, G.; Marconi, R.; Santorelli, F.; Trombetta, L.; Banfi, S.; Campanella, G.. "Effects of thyrotropin-releasing
hormone on heart rate in inherited ataxias". Medical Science Research 17 13 (1989): 569-570. http://www.scopus.com/inward/record.url?eid=2-s2.0-0024354230&partnerID=MN8TOARS.
- DEMICHELE, G; FILLA, A; BARBIERI, F; PERRETTI, A; SANTORO, L; TROMBETTA, L; SANTORELLI, F; CAMPANELLA, G. "LATE ONSET RECESSIVE
ATAXIA WITH FRIEDREICHS DISEASE PHENOTYPE". Journal of Neurology, Neurosurgery & Psychiatry (1989): https://publons.com/publon/35711448/.
10.1136/JNNP.52.12.1398
- ALFEREZ, TS; JANNEY, A; SANTORELLI, F. "ANTIMICROBIAL SUSCEPTIBILITY OF LOUISIANA WATERBORNE VIBRIONACEAE CAUSING HUMAN INFECTIONS".
Clinical Research (1987): https://publons.com/publon/35711447/.
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