Preview
Sign-in for full Details 
Sign-in free and Explore the Exciting World of BiomedExperts:
- Over 1.500.000 Profiles
- More than 1.800 Organizations worldwide
- State of the Art Network Visualizations
- Manage your own Profile
- Locate Experts in your Country/Region
- Locate Experts in your 1. and 2. Level Network
- Connect to Experts Worldwide
NetworkView
Filippo Santorelli
This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers
together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles
free of charge to researchers worldwide.
Research Profile (preview)
Chemicals & Drugs
Physiology
Concepts & Ideas
Procedures
Disorders
Geographic Areas
Living Beings
Anatomy
Sign-in to see full Profile
Network (preview)
39
Tessa, Alessandra
34
Bertini, Enrico
25
Casali, Carlo
24
DiMauro, Salvatore
21
Carrozzo, Rosalba
18
Bruno, Claudio
17
Dionisi-Vici, Carlo
15
Vilarinho, Laura
14
Shanske, Sara
12
Piemonte, Fiorella
12
Grieco, Gabriella
11
Fortini, Daniela
11
Minetti, Carlo
11
Pierelli, Francesco
11
Cassandrini, Denise
Sign-in to see all Coauthors
Publications
Sign-in to see all Publications
Sign in free and see...
Visualized networks:
See your personal network in
sophisticated graphical views
GeoTargeted Searches:
Locate experts around the world
and connect with global collaborators
Research Profiles:
See the visualized research activity
of experts around the globe
Sign-in to see more
Geonetwork of Filippo Santorelli (preview)
Cities where this author has publications
Cities where co-authors of this author have publications
Sign-in to see more
All Publications
-
2009: Sparaco Marco; Gaeta Laura Maria; Santorelli Filippo Maria; Passarelli Chiara; Tozzi Giulia; Bertini Enrico; Simonati Alessandro; Scaravilli Francesco; Taroni Franco; Duyckaerts Charles; Feleppa Michele; Piemonte Fiorella
Friedreich's ataxia: Oxidative stress and cytoskeletal abnormalities.
Journal of the neurological sciences 2009;287(1-2):111-8.
-
2009: Messina S; Tortorella G; Concolino D; Spanò M; D'Amico A; Bruno C; Santorelli F M; Mercuri E; Bertini E
Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy.
Neurology 2009;73(19):1599-601.
-
2009: Francalanci Paola; Santorelli Filippo M; Saccani Simona; Bonetti Maria F; Medicina Daniela; Coni Pierpaolo; Faa Gavino; Callea Francesco
Z and Mmalton-1-antitrypsin deficiency-associated hepatocellular carcinoma: a genetic study.
Liver international : official journal of the International Association for the Study of the Liver 2009;29(10):1593-6.
-
2009: Di Lorenzo Cherubino; Di Lorenzo Giorgio; Santorelli Filippo M
Pharmacogenomics and medication overuse headache: when the cure may turn to poison.
Pharmacogenomics 2009;10(10):1557-9.
-
2009: Di Lorenzo Cherubino; Di Lorenzo Giorgio; Sances Grazia; Ghiotto Natascia; Guaschino Elena; Grieco Gaetano S; Santorelli Filippo M; Casali Carlo; Troisi Alfonso; Siracusano Alberto; Pierelli Francesco
Drug consumption in medication overuse headache is influenced by brain-derived neurotrophic factor Val66Met polymorphism.
The journal of headache and pain 2009;10(5):349-55.
-
2009: Tessa Alessandra; Fiermonte Giuseppe; Dionisi-Vici Carlo; Paradies Eleonora; Baumgartner Matthias R; Chien Yin-Hsiu; Loguercio Carmela; de Baulny Helene Ogier; Nassogne Marie-Cecile; Schiff Manuel; Deodato Federica; Parenti Giancarlo; Rutledge S Lane; Vilaseca M Antonia; Melone Mariarosa A B; Scarano Gioacchino; Aldamiz-Echevarría Luiz; Besley Guy; Walter John; Martinez-Hernandez Eugenia; Hernandez Jose M; Pierri Ciro L; Palmieri Ferdinando; Santorelli Filippo M
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.
Human mutation 2009;30(5):741-8.
-
2009: Simonati Alessandro; Tessa Alessandra; Bernardina Bernardo Dalla; Biancheri Roberta; Veneselli Edvige; Tozzi Giulia; Bonsignore Maria; Grosso Salvatore; Piemonte Fiorella; Santorelli Filippo M
Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.
Pediatric neurology 2009;40(4):271-6.
-
2009: DiFabio Roberto; Santorelli Filippo M; Nola Giuseppe; Cricchi Federica; Masi Roberto; Ingrosso Angelo; Fattori Fabiana; Carrozzo Rosalba; Vanacore Nicola; Pierelli Francesco; Ralli Giovanni; Casali Carlo
Clinical and audiological follow up of a family with the 8363G>A mutation in the mitochondrial DNA.
Neuromuscular disorders : NMD 2009;19(4):291-6.
-
2009: Terracciano Alessandra; Casali Carlo; Grieco Gaetano S; Orteschi Daniela; Di Giandomenico Silvia; Seminara Laura; Di Fabio Roberto; Carrozzo Rosalba; Simonati Alessandro; Stevanin Giovanni; Zollino Marcella; Santorelli Filippo M
An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss.
Neurogenetics 2009;10(2):151-5.
-
2009: D'Onofrio Mara; Ambrosini Anna; Di Mambro Alessandra; Arisi Ivan; Santorelli Filippo M; Grieco Gaetano S; Nicoletti Ferdinando; Nappi Giuseppe; Pierelli Francesco; Schoenen Jean; Buzzi Maria Gabriella
The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribute to migraine susceptibility.
Neuroscience letters 2009;453(1):12-5.
-
2009: Aiello Chiara; Terracciano Alessandra; Simonati Alessandro; Discepoli Giancarlo; Cannelli Natalia; Claps Dianela; Crow Yanick J; Bianchi Marzia; Kitzmuller Claudia; Longo Daniela; Tavoni Antonietta; Franzoni Emilio; Tessa Alessandra; Veneselli Edwige; Boldrini Renata; Filocamo Mirella; Williams Ruth E; Bertini Enrico S; Biancheri Roberta; Carrozzo Rosalba; Mole Sara E; Santorelli Filippo M
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
Human mutation 2009;30(3):E530-40.
-
2009: Cannelli Natalia; Garavaglia Barbara; Simonati Alessandro; Aiello Chiara; Barzaghi Chiara; Pezzini Francesco; Cilio Maria Roberta; Biancheri Roberta; Morbin Michela; Dalla Bernardina Bernardo; Granata Tiziana; Tessa Alessandra; Invernizzi Federica; Pessagno Alice; Boldrini Renata; Zibordi Federica; Grazian Luisa; Claps Dianela; Carrozzo Rosalba; Mole Sara E; Nardocci Nardo; Santorelli Filippo M
Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.
Biochemical and biophysical research communications 2009;379(4):892-7.
-
2009: Denora Paola S; Muglia Maria; Casali Carlo; Truchetto Jérémy; Silvestri Gabriella; Messina Demetrio; Boukrhis Amir; Magariello Angela; Modoni Anna; Masciullo Marcella; Malandrini Alessandro; Morelli Maurizio; de Leva Maria Fulvia; Villanova Marcello; Giugni Elisabetta; Citrigno Luigi; Rizza Teresa; Federico Antonio; Pierallini Alberto; Quattrone Aldo; Filla Alessandro; Brice Alexis; Stevanin Giovanni; Santorelli Filippo M
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.
Journal of the neurological sciences 2009;277(1-2):22-5.
-
2009: Biancheri Roberta; Ciccolella Marianna; Rossi Andrea; Tessa Alessandra; Cassandrini Denise; Minetti Carlo; Santorelli Filippo M
White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1.
Neuromuscular disorders : NMD 2009;19(1):62-5.
-
2008: Masciullo Marcella; Modoni Anna; Fattori Fabiana; Santoro Massimo; Denora Paola S; Tonali Pietro; Santorelli Filippo M; Silvestri Gabriella
A novel mutation in the SACS gene associated with a complicated form of spastic ataxia.
Journal of neurology 2008;255(9):1429-31.
-
2008: Carrozzo Rosalba; Bellini Carlo; Lucioli Simona; Deodato Federica; Cassandrini Denise; Cassanello Michela; Caruso Ubaldo; Rizzo Cristiano; Rizza Teresa; Napolitano Matteo L; Wanders Ronald J A; Jakobs Cornelis; Bruno Claudio; Santorelli Filippo M; Dionisi-Vici Carlo; Bonioli Eugenio
Peroxisomal acyl-CoA-oxidase deficiency: two new cases.
American journal of medical genetics. Part A 2008;146A(13):1676-81.
-
2008: Messina S; Mora M; Pegoraro E; Pini A; Mongini T; D'Amico A; Pane M; Aiello C; Bruno C; Biancheri R; Berardinelli A; Boito C; Farina L; Morandi L; Moroni I; Pezzani R; Pichiecchio A; Ricci E; Ruggieri A; Saredi S; Scuderi C; Tessa A; Toscano A; Tortorella G; Trevisan C P; Uggetti C; Santorelli F M; Bertini E; Mercuri E
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
Neuromuscular disorders : NMD 2008;18(7):565-71.
-
2008: Barisoni Laura; Diomedi-Camassei Francesca; Santorelli Filippo M; Caridi Gianluca; Thomas David B; Emma Francesco; Piemonte Fiorella; Ghiggeri Gian Marco
Collapsing glomerulopathy associated with inherited mitochondrial injury.
Kidney international 2008;74(2):237-43.
-
2008: Hanein Sylvain; Martin Elodie; Boukhris Amir; Byrne Paula; Goizet Cyril; Hamri Abdelmadjid; Benomar Ali; Lossos Alexander; Denora Paola; Fernandez José; Elleuch Nizar; Forlani Sylvie; Durr Alexandra; Feki Imed; Hutchinson Michael; Santorelli Filippo M; Mhiri Chokri; Brice Alexis; Stevanin Giovanni
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.
American journal of human genetics 2008;82(4):992-1002.
-
2008: Nogueira Célia; Aiello Chiara; Cerone Roberto; Martins Esmeralda; Caruso Ubaldo; Moroni Isabella; Rizzo Cristiano; Diogo Luísa; Leão Elisa; Kok Fernando; Deodato Federica; Schiaffino Maria Cristina; Boenzi Sara; Danhaive Olivier; Barbot Clara; Sequeira Sílvia; Locatelli Mattia; Santorelli Filippo M; Uziel Graziella; Vilarinho Laura; Dionisi-Vici Carlo
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
Molecular genetics and metabolism 2008;93(4):475-80.
-
2008: Dimmock D P; Zhang Q; Dionisi-Vici C; Carrozzo R; Shieh J; Tang L-Y; Truong C; Schmitt E; Sifry-Platt M; Lucioli S; Santorelli F M; Ficicioglu C H; Rodriguez M; Wierenga K; Enns G M; Longo N; Lipson M H; Vallance H; Craigen W J; Scaglia F; Wong L-J
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
Human mutation 2008;29(2):330-1.
-
2008: D'Amico Adele; Petrini Stefania; Parisi Francesco; Tessa Alessandra; Francalanci Paola; Grutter Giorgia; Santorelli Filippo M; Bertini Enrico
Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy.
Neuromuscular disorders : NMD 2008;18(2):153-5.
-
2008: Mancuso Michelangelo; Ricci Giulia; Choub Anna; Filosto Massimiliano; DiMauro Salvatore; Davidzon Guido; Tessa Alessandra; Santorelli Filippo M; Murri Luigi; Siciliano Gabriele
Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: report of a family.
Journal of affective disorders 2008;106(1-2):173-7.
-
2008: Tuppen H A L; Fattori F; Carrozzo R; Zeviani M; DiMauro S; Seneca S; Martindale J E; Olpin S E; Treacy E P; McFarland R; Santorelli F M; Taylor R W
Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations.
Journal of medical genetics 2008;45(1):55-61.
-
2007: Nogueira Célia; Nunes João; Evangelista Teresinha; Fattori Fabiana; Tessa Alessandra; Pereira Cristina; Santorelli Filippo M; Vilarinho Laura
A new mtDNA-tRNA(Glu) mutation (14728T>C) presenting a late-onset mitochondrial encephalomyopathy.
Mitochondrion 2007;7(6):396-8.
-
2007: Wittig Ilka; Carrozzo Rosalba; Santorelli Filippo M; Schägger Hermann
Functional assays in high-resolution clear native gels to quantify mitochondrial complexes in human biopsies and cell lines.
Electrophoresis 2007;28(21):3811-20.
-
2007: Biancheri Roberta; Falace Antonio; Tessa Alessandra; Pedemonte Marina; Scapolan Sara; Cassandrini Denise; Aiello Chiara; Rossi Andrea; Broda Paolo; Zara Federico; Santorelli Filippo Maria; Minetti Carlo; Bruno Claudio
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
Biochemical and biophysical research communications 2007;363(4):1033-7.
-
2007: Diomedi-Camassei Francesca; Di Giandomenico Silvia; Santorelli Filippo M; Caridi Gianluca; Piemonte Fiorella; Montini Giovanni; Ghiggeri Gian Marco; Murer Luisa; Barisoni Laura; Pastore Anna; Muda Andrea Onetti; Valente Maria Luisa; Bertini Enrico; Emma Francesco
COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.
Journal of the American Society of Nephrology : JASN 2007;18(10):2773-80.
-
2007: Di Lorenzo C; Sances G; Di Lorenzo G; Rengo C; Ghiotto N; Guaschino E; Perrotta A; Santorelli F M; Grieco G S; Troisi A; Siracusano A; Pierelli F; Nappi G; Casali C
The wolframin His611Arg polymorphism influences medication overuse headache.
Neuroscience letters 2007;424(3):179-84.
-
2007: Carrozzo Rosalba; Piemonte Fiorella; Tessa Alessandra; Lucioli Simona; Rizza Teresa; Meschini Maria Chiara; Fattori Fabiana; Santorelli Filippo M
Infantile mitochondrial disorders.
Bioscience reports 2007;27(1-3):105-12.
-
2007: Bouslam Naima; Bouhouche Ahmed; Benomar Ali; Hanein Sylvain; Klebe Stephan; Azzedine Hamid; Di Giandomenico Silvia; Boland-Augé Anne; Santorelli Filippo M; Durr Alexandra; Brice Alexis; Yahyaoui Mohamed; Stevanin Giovanni
A novel locus for autosomal recessive spastic ataxia on chromosome 17p.
Human genetics 2007;121(3-4):413-20.
-
2007: Stevanin Giovanni; Santorelli Filippo M; Azzedine Hamid; Coutinho Paula; Chomilier Jacques; Denora Paola S; Martin Elodie; Ouvrard-Hernandez Anne-Marie; Tessa Alessandra; Bouslam Naïma; Lossos Alexander; Charles Perrine; Loureiro José L; Elleuch Nizar; Confavreux Christian; Cruz Vítor T; Ruberg Merle; Leguern Eric; Grid Djamel; Tazir Meriem; Fontaine Bertrand; Filla Alessandro; Bertini Enrico; Durr Alexandra; Brice Alexis
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
Nature genetics 2007;39(3):366-72.
-
2007: Carrozzo Rosalba; Dionisi-Vici Carlo; Steuerwald Ulrike; Lucioli Simona; Deodato Federica; Di Giandomenico Sivia; Bertini Enrico; Franke Barbara; Kluijtmans Leo A J; Meschini Maria Chiara; Rizzo Cristiano; Piemonte Fiorella; Rodenburg Richard; Santer René; Santorelli Filippo M; van Rooij Arno; Vermunt-de Koning Diana; Morava Eva; Wevers Ron A
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Brain : a journal of neurology 2007;130(Pt 3):862-74.
-
2007: Cricchi F; Di Lorenzo C; Grieco G S; Rengo C; Cardinale A; Racaniello M; Santorelli F M; Nappi G; Pierelli F; Casali C
Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop.
Journal of the neurological sciences 2007;254(1-2):69-71.
-
2007: Petruzzella Vittoria; Tessa Alessandra; Torraco Alessandra; Fattori Fabiana; Dotti Maria Teresa; Bruno Claudio; Cardaioli Elena; Papa Sergio; Federico Antonio; Santorelli Filippo M
The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy.
Biochemical and biophysical research communications 2007;355(1):181-7.
-
2007: Pereira Cristina; Nogueira Celia; Barbot Clara; Tessa Alessandra; Soares Carla; Fattori Fabiana; Guimarães António; Santorelli Filippo M; Vilarinho Laura
Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy.
Biochemical and biophysical research communications 2007;354(4):937-41.
-
2007: Cannelli N; Nardocci N; Cassandrini D; Morbin M; Aiello C; Bugiani M; Criscuolo L; Zara F; Striano P; Granata T; Bertini E; Simonati A; Santorelli F M
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.
Neuropediatrics 2007;38(1):46-9.
-
2007: Striano Pasquale; Specchio Nicola; Biancheri Roberta; Cannelli Natalia; Simonati Alessandro; Cassandrini Denise; Rossi Andrea; Bruno Claudio; Fusco Lucia; Gaggero Roberto; Vigevano Federico; Bertini Enrico; Zara Federico; Santorelli Filippo M; Striano Salvatore
Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations.
Epilepsy & behavior : E&B 2007;10(1):187-91.
-
2006: Cassandrini Denise; Savasta Salvatore; Bozzola Mauro; Tessa Alessandra; Pedemonte Marina; Assereto Stefania; Stringara Silvia; Minetti Carlo; Santorelli Filippo M; Bruno Claudio
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism.
Journal of child neurology 2006;21(11):983-5.
-
2006: Biancheri Roberta; Bertini Enrico; Falace Antonio; Pedemonte Marina; Rossi Andrea; D'Amico Adele; Scapolan Sara; Bergamino Laura; Petrini Stefania; Cassandrini Denise; Broda Paolo; Manfredi Mario; Zara Federico; Santorelli Filippo M; Minetti Carlo; Bruno Claudio
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
Archives of neurology 2006;63(10):1491-5.
-
2006: D'Amico Adele; Graziano Claudio; Pacileo Giuseppe; Petrini Stefania; Nowak Kristen J; Boldrini Renata; Jacques Adam; Feng Juan-Juan; Porfirio Berardino; Sewry Caroline A; Santorelli Filippo M; Limongelli Giuseppe; Bertini Enrico; Laing Nigel; Marston Steven B
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.
Neuromuscular disorders : NMD 2006;16(9-10):548-52.
-
2006: Wittig Ilka; Carrozzo Rosalba; Santorelli Filippo M; Schägger Hermann
Supercomplexes and subcomplexes of mitochondrial oxidative phosphorylation.
Biochimica et biophysica acta 2006;1757(9-10):1066-72.
-
2006: Di Rosa Gabriella; Deodato Federica; Loupatty Ference J; Rizzo Cristiano; Carrozzo Rosalba; Santorelli Filippo M; Boenzi Sara; D'Amico Adele; Tozzi Giulia; Bertini Enrico; Maiorana Andrea; Wanders Ronald J A; Dionisi-Vici Carlo
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.
Journal of inherited metabolic disease 2006;29(4):546-50.
-
2006: Santoro L; Manganelli F; Lanzillo R; Tessa A; Barbieri F; Pierelli F; Di Giacinto G; Nigro V; Santorelli F M
A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy.
Journal of neurology 2006;253(7):869-74.
-
2006: Mercuri E; D'Amico A; Tessa A; Berardinelli A; Pane M; Messina S; van Reeuwijk J; Bertini E; Muntoni F; Santorelli F M
POMT2 mutation in a patient with 'MEB-like' phenotype.
Neuromuscular disorders : NMD 2006;16(7):446-8.
-
2006: Nobili Valerio; Di Giandomenico Silvia; Francalanci Paola; Callea Francesco; Marcellini Matilde; Santorelli Filippo M
A new ABCB11 mutation in two Italian children with familial intrahepatic cholestasis.
Journal of gastroenterology 2006;41(6):598-603.
-
2006: Bonsignore Maria; Tessa Alessandra; Di Rosa Gabriella; Piemonte Fiorella; Dionisi-Vici Carlo; Simonati Alessandro; Calamoneri Filippo; Tortorella Gaetano; Santorelli Filippo M
Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2006;10(3):154-6.
-
2006: D'Amico A; Tessa A; Bruno C; Petrini S; Biancheri R; Pane M; Pedemonte M; Ricci E; Falace A; Rossi A; Mercuri E; Santorelli F M; Bertini E
Expanding the clinical spectrum of POMT1 phenotype.
Neurology 2006;66(10):1564-7; discussion 1461.
-
2006: Deodato Federica; Boenzi Sara; Santorelli Filippo M; Dionisi-Vici Carlo
Methylmalonic and propionic aciduria.
American journal of medical genetics. Part C, Seminars in medical genetics 2006;142C(2):104-12.
-
2006: Cannelli Natalia; Cassandrini Denise; Bertini Enrico; Striano Pasquale; Fusco Lucia; Gaggero Roberto; Specchio Nicola; Biancheri Roberta; Vigevano Federico; Bruno Claudio; Simonati Alessandro; Zara Federico; Santorelli Filippo M
Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.
Neurogenetics 2006;7(2):111-7.
-
2006: Criscuolo C; Chessa L; Di Giandomenico S; Mancini P; Saccà F; Grieco G S; Piane M; Barbieri F; De Michele G; Banfi S; Pierelli F; Rizzuto N; Santorelli F M; Gallosti L; Filla A; Casali C
Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study.
Neurology 2006;66(8):1207-10.
-
2006: Cassandrini Denise; Calevo Maria Grazia; Tessa Alessandra; Manfredi Giovanni; Fattori Fabiana; Meschini Maria Chiara; Carrozzo Rosalba; Tonoli Emmanuel; Pedemonte Marina; Minetti Carlo; Zara Federico; Santorelli Filippo M; Bruno Claudio
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy.
Biochemical and biophysical research communications 2006;342(2):387-93.
-
2006: Francalanci Paola; Santorelli Filippo M; Talini Ilaria; Boldrini Renata; Devito Rita; Camassei Francesca Diomedi; Maggiore Giuseppe; Callea Francesco
Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg-->Trp gene mutation.
The Journal of pediatrics 2006;148(3):396-8.
-
2006: Pierelli F; Grieco G S; Pauri F; Pirro C; Fiermonte G; Ambrosini A; Costa A; Buzzi M G; Valoppi M; Caltagirone C; Nappi G; Santorelli F M
A novel ATP1A2 mutation in a family with FHM type II.
Cephalalgia : an international journal of headache 2006;26(3):324-8.
-
2006: Montagna Giorgia; Teijido Oscar; Eymard-Pierre Eleonore; Muraki Koutarou; Cohen Bruce; Loizzo Annalivia; Grosso Pietro; Tedeschi Gioacchino; Palacín Manuel; Boespflug-Tanguy Odile; Bertini Enrico; Santorelli Filippo M; Estévez Raúl
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1.
Human mutation 2006;27(3):292.
-
2006: Gennaro Elena; Santorelli Filippo M; Bertini Enrico; Buti Daniela; Gaggero Roberto; Gobbi Giuseppe; Lini Marcella; Granata Tiziana; Freri Elena; Parmeggiani Antonia; Striano Pasquale; Veggiotti Pierangelo; Cardinali Simona; Bricarelli Franca Dagna; Minetti Carlo; Zara Federico
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.
Biochemical and biophysical research communications 2006;341(2):489-93.
-
2006: Emma Francesco; Pizzini Carla; Tessa Alessandra; Di Giandomenico Silvia; Onetti-Muda Andrea; Santorelli Filippo M; Bertini Enrico; Rizzoni Gianfranco
"Bartter-like" phenotype in Kearns-Sayre syndrome.
Pediatric nephrology (Berlin, Germany) 2006;21(3):355-60.
-
2006: Curbo Sophie; Lagier-Tourenne Clotilde; Carrozzo Rosalba; Palenzuela Lluis; Lucioli Simona; Hirano Michio; Santorelli Filippo; Arenas Joaquin; Karlsson Anna; Johansson Magnus
Human mitochondrial pyrophosphatase: cDNA cloning and analysis of the gene in patients with mtDNA depletion syndromes.
Genomics 2006;87(3):410-6.
-
2006: Lucioli Simona; Hoffmeier Klaus; Carrozzo Rosalba; Tessa Alessandra; Ludwig Bernd; Santorelli Filippo M
Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient.
Neurogenetics 2006;7(1):51-7.
-
2006: Fecarotta S; Parenti G; Vajro P; Zuppaldi A; Della Casa R; Carbone M T; Correra A; Torre G; Riva S; Dionisi-Vici C; Santorelli F M; Andria G
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.
Journal of inherited metabolic disease 2006;29(1):186-9.
-
2006: Mercuri Eugenio; Topaloglu Haluk; Brockington Martin; Berardinelli Angela; Pichiecchio Anna; Santorelli Filippo; Rutherford Mary; Talim Beril; Ricci Enzo; Voit Thomas; Muntoni Francesco
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.
Archives of neurology 2006;63(2):251-7.
-
2006: Sparaco Marco; Gaeta Laura Maria; Tozzi Giulia; Bertini Enrico; Pastore Anna; Simonati Alessandro; Santorelli Filippo Maria; Piemonte Fiorella
Protein glutathionylation in human central nervous system: potential role in redox regulation of neuronal defense against free radicals.
Journal of neuroscience research 2006;83(2):256-63.
-
2006: Carrozzo Rosalba; Wittig Ilka; Santorelli Filippo M; Bertini Enrico; Hofmann Sabine; Brandt Ulrich; Schägger Hermann
Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders.
Annals of neurology 2006;59(2):265-75.
-
2005: Ambrosini A; D'Onofrio M; Grieco G S; Di Mambro A; Montagna G; Fortini D; Nicoletti F; Nappi G; Sances G; Schoenen J; Buzzi M G; Santorelli F M; Pierelli F
Familial basilar migraine associated with a new mutation in the ATP1A2 gene.
Neurology 2005;65(11):1826-8.
-
2005: Bertini E; Donati M A; Broda P; Cassandrini D; Petrini S; Dionisi-Vici C; Ballerini L; Boldrini R; D'Amico A; Pasquini E; Minetti C; Santorelli F M; Bruno C
Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation.
Neuropediatrics 2005;36(5):309-13.
-
2005: Vilarinho L; Cardoso M L; Gaspar P; Barbot C; Azevedo L; Diogo L; Santos M; Carrilho I; Fineza I; Kok F; Chorão R; Alegria P; Martins E; Teixeira J; Cabral Fernandes H; Verhoeven N M; Salomons G S; Santorelli F M; Cabral P; Amorim A; Jakobs C
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.
Human mutation 2005;26(4):395-6.
-
2005: Coppola Giovanni; Criscuolo Chiara; De Michele Giuseppe; Striano Salvatore; Barbieri Fabrizio; Striano Pasquale; Perretti Anna; Santoro Lucio; Brescia Morra Vincenzo; Saccà Francesco; Scarano Valentina; D'Adamo Adamo P; Banfi Sandro; Gasparini Paolo; Santorelli Filippo M; Lehesjoki Anna E; Filla Alessandro
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.
Journal of neurology 2005;252(8):897-900.
-
2005: Scarano Valentina; Mancini Pietro; Criscuolo Chiara; De Michele Giuseppe; Rinaldi Carlo; Tucci Tecla; Tessa Alessandra; Santorelli Filippo M; Perretti Anna; Santoro Lucio; Filla Alessandro
The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.
Journal of neurology 2005;252(8):901-3.
-
2005: Cardoso M L; Balreira A; Martins E; Nunes L; Cabral A; Marques M; Lima M Reis; Marques J S; Medeira A; Cordeiro I; Pedro S; Mota M C; Dionisi-Vici C; Santorelli F M; Jakobs C; Clayton P T; Vilarinho L
Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.
Molecular genetics and metabolism 2005;85(3):228-35.
-
2005: Patrono Clarice; Scarano Valentina; Cricchi Federica; Melone Mariarosa A B; Chiriaco Maria; Napolitano Alessandro; Malandrini Alessandro; De Michele Giuseppe; Petrozzi Lucia; Giraldi Carlo; Santoro Lucio; Servidei Serena; Casali Carlo; Filla Alessandro; Santorelli Filippo M
Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.
Human mutation 2005;25(5):506.
-
2005: Bornstein Belén; Mas José Antonio; Patrono Clarice; Fernández-Moreno Miguel Angel; González-Vioque Emiliano; Campos Yolanda; Carrozzo Rosalba; Martín Miguel Angel; del Hoyo Pilar; Santorelli Filippo M; Arenas Joaquín; Garesse Rafael
Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene.
The Biochemical journal 2005;387(Pt 3):773-8.
-
2005: Montagna Giorgia; Di Biase Antonella; Cappa Marco; Melone Mariarosa A B; Piantadosi Carlo; Colabianchi Diego; Patrono Clarice; Attori Lucilla; Cannelli Natalia; Cotrufo Roberto; Salvati Serafina; Santorelli Filippo M
Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.
Human mutation 2005;25(2):222.
-
2005: Puppin Cinzia; Pellizzari Lucia; Fabbro Dora; Fogolari Federico; Tell Gianluca; Tessa Alessanda; Santorelli Filippo M; Damante Giuseppe
Functional analysis of a novel RUNX2 missense mutation found in a family with cleidocranial dysplasia.
Journal of human genetics 2005;50(12):679-83.
-
2004: Carrozzo Rosalba; Rizza Teresa; Stringaro Annarita; Pierini Roberta; Mormone Elisabetta; Santorelli Filippo M; Malorni Walter; Matarrese Paola
Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis.
Journal of neurochemistry 2004;90(2):490-501.
-
2004: Formichi P; Malandrini A; Battisti C; Santorelli F M; Gambelli S; Tripodi S A; Berti G; Salvadori C; Tessa A; Federico A
DNA end labelling (TUNEL) in a 3 year old girl with Leigh syndrome and prevalent cortical involvement.
Journal of neurology, neurosurgery, and psychiatry 2004;75(6):930-2.
-
2004: Carrozzo R; Rizza T; Lucioli S; Pierini R; Bertini E; Santorelli F M
A mitochondrial ATPase 6 mutation is associated with Leigh syndrome in a family and affects proton flow and adenosine triphosphate output when modeled in Escherichia coli.
Acta paediatrica (Oslo, Norway : 1992). Supplement 2004;93(445):65-7.
-
2004: Papa Sergio; Petruzzella Vittoria; Scacco Salvatore; Vergari Rosaria; Panelli Damiano; Tamborra Rosanna; Corsi Patrizia; Picciariello Margherita; Lambo Rossana; Bertini Enrico; Santorelli Filippo Maria
Respiratory complex I in brain development and genetic disease.
Neurochemical research 2004;29(3):547-60.
-
2004: Melone Mariarosa A B; Tessa Alessandra; Petrini Stefania; Lus Giacomo; Sampaolo Simone; di Fede Giuseppe; Santorelli Filippo M; Cotrufo Roberto
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.
Archives of neurology 2004;61(2):269-72.
-
2004: Casali C; Valente E M; Bertini E; Montagna G; Criscuolo C; De Michele G; Villanova M; Damiano M; Pierallini A; Brancati F; Scarano V; Tessa A; Cricchi F; Grieco G S; Muglia M; Carella M; Martini B; Rossi A; Amabile G A; Nappi G; Filla A; Dallapiccola B; Santorelli F M
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum.
Neurology 2004;62(2):262-8.
-
2004: Grieco G S; Malandrini A; Comanducci G; Leuzzi V; Valoppi M; Tessa A; Palmeri S; Benedetti L; Pierallini A; Gambelli S; Federico A; Pierelli F; Bertini E; Casali C; Santorelli F M
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.
Neurology 2004;62(1):103-6.
-
2004: Criscuolo C; Banfi S; Orio M; Gasparini P; Monticelli A; Scarano V; Santorelli F M; Perretti A; Santoro L; De Michele G; Filla A
A novel mutation in SACS gene in a family from southern Italy.
Neurology 2004;62(1):100-2.
-
2004: Bruno C; Bertini E; Federico A; Tonoli E; Lispi M L; Cassandrini D; Pedemonte M; Santorelli F M; Filocamo M; Dotti M T; Schenone A; Malandrini A; Minetti C
Clinical and molecular findings in patients with giant axonal neuropathy (GAN).
Neurology 2004;62(1):13-6.
-
2003: Cavalli Pietro; Santorelli Filippo M; Bontardelli Massimo; Tessa Alessandra; Bosi Anna; Poggiani Carlo
Prenatal exclusion of cleidocranial dysplasia.
Prenatal diagnosis 2003;23(11):945-6.
-
2003: Pistilli Daniela; di Gioia Cira R T; D'Amati Giulia; Sciacchitano Salvatore; Quaglione Raffaele; Quitadamo Raffaella; Casali Carlo; Gallo Pietro; Santorelli Filippo M
Detection of deleted mitochondrial DNA in Kearns-Sayre syndrome using laser capture microdissection.
Human pathology 2003;34(10):1058-61.
-
2003: Francalanci Paola; Diomedi-Camassei Francesca; Purificato Cristina; Santorelli Filippo Maria; Giannotti Aldo; Dominici Carlo; Inserra Alessandro; Boldrini Renata
Malignant pancreatic endocrine tumor in a child with tuberous sclerosis.
The American journal of surgical pathology 2003;27(10):1386-9.
-
2003: Bruno Claudio; Santorelli Filippo M; Assereto Stefania; Tonoli Emmanuel; Tessa Alessandra; Traverso Monica; Scapolan Sara; Bado Massimo; Tedeschi Silvana; Minetti Carlo
Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene.
Muscle & nerve 2003;28(4):508-11.
-
2003: Patrono C; Di Giacinto G; Eymard-Pierre E; Santorelli F M; Rodriguez D; De Stefano N; Federico A; Gatti R; Benigno V; Megarbané A; Tabarki B; Boespflug-Tanguy O; Bertini E
Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.
Neurology 2003;61(4):534-7.
-
2003: Fiermonte Giuseppe; Dolce Vincenza; David Laura; Santorelli Filippo Maria; Dionisi-Vici Carlo; Palmieri Ferdinando; Walker John E
The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.
The Journal of biological chemistry 2003;278(35):32778-83.
-
2003: Tessa Alessandra; Salvi Sergio; Casali Carlo; Garavelli Livia; Digilio M Cristina; Dotti M Teresa; Di Giandomenico Silvia; Valoppi Manuela; Grieco Gaetano S; Comanducci Giovanna; Bianchini Giacomo; Fortini Daniela; Federico Antonio; Giannotti Aldo; Santorelli Filippo M
Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia.
Human mutation 2003;22(1):104.
-
2003: Serretti Alessandro; Cusin Cristina; Cristina Silvano; Lorenzi Cristina; Lilli Roberta; Lattuada Enrico; Grieco Gaetano; Costa Alfredo; Santorelli Filippo; Barale Francesco; Smeraldi Enrico; Nappi Giuseppe
Multicentre Italian family-based association study on tyrosine hydroxylase, catechol-O-methyl transferase and Wolfram syndrome 1 polymorphisms in mood disorders.
Psychiatric genetics 2003;13(2):121-6.
-
2003: Taylor Robert W; Giordano Carla; Davidson Mercy M; d'Amati Giulia; Bain Hugh; Hayes Christine M; Leonard Helen; Barron Martin J; Casali Carlo; Santorelli Filippo M; Hirano Michio; Lightowlers Robert N; DiMauro Salvatore; Turnbull Douglass M
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.
Journal of the American College of Cardiology 2003;41(10):1786-96.
-
2003: Siciliano Gabriele; Pasquali Livia; Manca Maria Laura; Del Corona Alberto; Tessa Alessandra; Patrono Clarice; Prontera Concetta; Zucchelli Giancarlo; Santorelli Filippo M
The relationship between anaerobic lactate threshold and plasma catecholamines during incremental exercise in hereditary spastic paraplegia.
Functional neurology 2003;18(2):83-7.
-
2003: Bruno Claudio; Sacco Oliviero; Santorelli Filippo M; Assereto Stefania; Tonoli Emmanuel; Bado Massimo; Rossi Giovanni A; Minetti Carlo
Mitochondrial myopathy and respiratory failure associated with a new mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene.
Journal of child neurology 2003;18(4):300-3.
-
2003: Cupini Letizia M; Santorelli Filippo M; Iani Cesare; Fariello Giuseppe; Calabresi Paolo
Cyclic vomiting syndrome, migraine, and epilepsy: a common underlying disorder?
Headache 2003;43(4):407-9.
-
2003: Carrozzo R; Bornstein B; Lucioli S; Campos Y; de la Pena P; Petit N; Dionisi-Vici C; Vilarinho L; Rizza T; Bertini E; Garesse R; Santorelli F M; Arenas J
Mutation analysis in 16 patients with mtDNA depletion.
Human mutation 2003;21(4):453-4.
-
2003: Cupini L M; Massa R; Floris R; Manenti G; Martini B; Tessa A; Nappi G; Bernardi G; Santorelli F M
Migraine-like disorder segregating with mtDNA 14484 Leber hereditary optic neuropathy mutation.
Neurology 2003;60(4):717-9.
-
2003: Lesca G; Eymard-Pierre E; Santorelli F M; Cusmai R; Di Capua M; Valente E M; Attia-Sobol J; Plauchu H; Leuzzi V; Ponzone A; Boespflug-Tanguy O; Bertini E
Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families.
Neurology 2003;60(4):674-82.
-
2003: Siciliano G; Tessa A; Petrini S; Mancuso M; Bruno C; Grieco G S; Malandrini A; DeFlorio L; Martini B; Federico A; Nappi G; Santorelli F M; Murri L
Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.
Neuromuscular disorders : NMD 2003;13(2):162-5.
-
2003: Fortini Daniela; Cricchi Federica; Di Fabio Roberto; Damiano Maria; Comanducci Giovanna; Benedetti Laura; Valoppi Manuela; Grieco Gaetano S; D'Eugenio Ottavio; Celato Andrea; Santorelli Filippo; Casali Carlo; Amabile Giuseppe A; Pierelli Francesco
Current insights into familial spastic paraparesis: new advances in an old disease.
Functional neurology 2003;18(1):43-9.
-
2002: Tessa A; Casali C; Damiano M; Bruno C; Fortini D; Patrono C; Cricchi F; Valoppi M; Nappi G; Amabile G A; Bertini E; Santorelli F M
SPG3A: An additional family carrying a new atlastin mutation.
Neurology 2002;59(12):2002-5.
-
2002: Eymard-Pierre Eleonore; Lesca Gaetan; Dollet Sandra; Santorelli Filippo Maria; di Capua Matteo; Bertini Enrico; Boespflug-Tanguy Odile
Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.
American journal of human genetics 2002;71(3):518-27.
-
2002: Patrono C; Dionisi-Vici C; Giannotti A; Bembi B; Digilio M C; Rizzo C; Purificato C; Martini C; Pierini R; Santorelli F M
Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome.
Molecular and cellular probes 2002;16(4):315-8.
-
2002: Siciliano Gabriele; Monzani Fabio; Manca Maria Laura; Tessa Alessandra; Caraccio Nadia; Tozzi Giulia; Piemonte Fiorella; Mancuso Michelangelo; Santorelli Filippo Maria; Ferrannini Eleuterio; Murri Luigi
Human mitochondrial transcription factor A reduction and mitochondrial dysfunction in Hashimoto's hypothyroid myopathy.
Molecular medicine (Cambridge, Mass.) 2002;8(6):326-33.
-
2002: Bruno C; Gandullia P; Santorelli F M; Biedi C; Carbone I; Bado M; Gatti R; Minetti C
Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion.
Clinical genetics 2002;61(6):465-7.
-
2002: Serretti Alessandro; Cristina Silvano; Lilli Roberta; Cusin Cristina; Lattuada Enrico; Lorenzi Cristina; Corradi Barbara; Grieco Gaetano; Costa Alfredo; Santorelli Filippo; Barale Francesco; Nappi Giuseppe; Smeraldi Enrico
Family-based association study of 5-HTTLPR, TPH, MAO-A, and DRD4 polymorphisms in mood disorders.
American journal of medical genetics 2002;114(4):361-9.
-
2002: Giordano Carla; Pallotti Francesco; Walker Winsome F; Checcarelli Nicoletta; Musumeci Olimpia; Santorelli Filippo; d'Amati Giulia; Schon Eric A; DiMauro Salvatore; Hirano Michio; Davidson Mercy M
Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation.
Biochemical and biophysical research communications 2002;293(1):521-9.
-
2002: Patrono Clarice; Casali Carlo; Tessa Alessandra; Cricchi Federica; Fortini Daniela; Carrozzo Rosalba; Siciliano Gabriele; Bertini Enrico; Santorelli Filippo M
Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia.
Journal of neurology 2002;249(2):200-5.
-
2001: Vilarinho L; Barbot C; Carrozo R; Calado E; Tessa A; Dionisi-Vici C; Guimarães A; Santorelli F M
Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation.
Journal of inherited metabolic disease 2001;24(8):883-4.
-
2001: Salvi S; Santorelli F M; Bertini E; Boldrini R; Meli C; Donati A; Burlina A B; Rizzo C; Di Capua M; Fariello G; Dionisi-Vici C
Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Neurology 2001;57(5):911-4.
-
2001: Piemonte F; Casali C; Carrozzo R; Schägger H; Patrono C; Tessa A; Tozzi G; Cricchi F; Di Capua M; Siciliano G; Amabile G A; Morocutti C; Bertini E; Santorelli F M
Respiratory chain defects in hereditary spastic paraplegias.
Neuromuscular disorders : NMD 2001;11(6-7):565-9.
-
2001: Francalanci P; Eymard-Pierre E; Dionisi-Vici C; Boldrini R; Piemonte F; Virgili R; Fariello G; Bosman C; Santorelli F M; Boespflug-Tanguy O; Bertini E
Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27.
Neurology 2001;57(2):265-70.
-
2001: Barbieri F; Pellecchia M T; Esposito E; Di Stasio E; Castaldo I; Santorelli F; Perretti A; Santoro L; De Michele G
Adult-onset familial laryngeal abductor paralysis, cerebellar ataxia, and pure motor neuropathy.
Neurology 2001;56(10):1412-4.
-
2001: Casali C; Bonifati V; Santorelli F M; Casari G; Fortini D; Patrignani A; Fabbrini G; Carrozzo R; D'Amati G; Locuratolo N; Vanacore N; Damiano M; Pierallini A; Pierelli F; Amabile G A; Meco G
Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family.
Neurology 2001;56(6):802-5.
-
2001: Santorelli F M; Tessa A; D'amati G; Casali C
The emerging concept of mitochondrial cardiomyopathies.
American heart journal 2001;141(1):E1.
-
2001: Martini B; Grieco G S; Fortini D; Costa A; Nappi G; Santorelli F M
Heterogeneity in migraine: many genes for many phenotypes?
Functional neurology 2001;16(4 Suppl):63-7.
-
2000: 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 2000;15(4):211-4.
-
2000: Santorelli F M; Patrono C; Fortini D; Tessa A; Comanducci G; Bertini E; Pierallini A; Amabile G A; Casali C
Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation.
Neurology 2000;55(5):702-5.
-
2000: Santoro L; Carrozzo R; Malandrini A; Piemonte F; Patrono C; Villanova M; Tessa A; Palmeri S; Bertini E; Santorelli F M
A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency.
Neuromuscular disorders : NMD 2000;10(6):450-3.
-
2000: Di Gennaro G; Buzzi M G; Ciccarelli O; Santorelli F M; Pierelli F; Fortini D; D'Onofrio M; Costa A; Nappi G; Casali C
Assessing the relative incidence of mitochondrial DNA A3243G in migraine without aura with maternal inheritance.
Headache 2000;40(7):568-71.
-
2000: 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;92(1):53-6.
-
2000: 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 2000;101(4):255-8.
-
2000: 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 2000;23(2):155-61.
-
2000: Bruno C; Bertini E; Santorelli F M; DiMauro S
HyperCKemia as the only sign of McArdle's disease in a child.
Journal of child neurology 2000;15(2):137-8.
-
2000: Buzzi M G; Di Gennaro G; D'Onofrio M; Ciccarelli O; Santorelli F M; Fortini D; Nappi G; Nicoletti F; Casali C
mtDNA A3243G MELAS mutation is not associated with multigenerational female migraine.
Neurology 2000;54(4):1005-7.
-
2000: Vilarinho L; Leão E; Barbot C; Santos M; Rocha H; Santorelli F M
Clinical and molecular studies in three Portuguese mtDNA T8993G families.
Pediatric neurology 2000;22(1):29-32.
-
2000: 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 2000;54(1):266-7.
-
2000: 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 2000;45(2):109-11.
-
1999: Rocha H; Flores C; Campos Y; Arenas J; Vilarinho L; Santorelli F M; Torroni A
About the "Pathological" role of the mtDNA T3308C mutationellipsis.
American journal of human genetics 1999;65(5):1457-9.
-
1999: Villanova M; Ceuterick C; Dotti M T; Santorelli F M; Casali C; Malandrini A; De Stefano N; Lübke U; Martin J J; Guazzi G C; Federico A
Detection of beta-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjögren).
Acta neuropathologica 1999;98(1):78-84.
-
1999: 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 1999;33(6):1584-9.
-
1999: Vilarinho L; Santorelli F M; Coelho I; Rodrigues L; Maia M; Barata I; Cabral P; Dionísio A; Costa A; Guimarães A; DiMauro S
The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families.
Journal of the neurological sciences 1999;163(2):168-74.
-
1999: Casali C; Fabrizi G M; Santorelli F M; Colazza G; Villanova M; Dotti M T; Cavallaro T; Cardaioli E; Battisti C; Manneschi L; DiGennaro G C; Fortini D; Spadaro M; Morocutti C; Federico A
Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family.
Neurology 1999;52(5):1103-4.
-
1999: 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 1999;22(1):90-1.
-
1999: Arenas J; Campos Y; Bornstein B; Ribacoba R; Martín M A; Rubio J C; Santorelli F M; Zeviani M; DiMauro S; Garesse R
A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers.
Neurology 1999;52(2):377-82.
-
1999: 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.
American journal of human genetics 1999;64(1):295-300.
-
1998: 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 1998;44(6):962-4.
-
1998: Santorelli F M; Casali C
Genetic heterogeneity of myoclonus epilepsy with ragged-red fibers syndrome.
Muscle & nerve 1998;21(5):681-2.
-
1998: Bruno C; Minetti C; Tang Y; Magalhães P J; Santorelli F M; Shanske S; Bado M; Cordone G; Gatti R; DiMauro S
Primary adrenal insufficiency in a child with a mitochondrial DNA deletion.
Journal of inherited metabolic disease 1998;21(2):155-61.
-
1998: 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 1998;50(1):99-106.
-
1998: 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 1998;39(3):148-53.
-
1997: Vilarinho L; Maia C; Coelho T; Coutinho P; Santorelli F M
Heterogeneous presentation in Leigh syndrome.
Journal of inherited metabolic disease 1997;20(5):704-5.
-
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 1997;238(2):326-8.
-
1997: 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 1997;34(7):607-9.
-
1997: Santorelli F M; Tanji K; Shanske S; DiMauro S
Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation.
Neurology 1997;49(1):270-3.
-
1997: Santorelli F M; Siciliano G; Casali C; Basirico M G; Carrozzo R; Calvosa F; Sartucci F; Bonfiglio L; Murri L; DiMauro S
Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy.
Neuromuscular disorders : NMD 1997;7(3):156-9.
-
1997: Sobreira C; Hirano M; Shanske S; Keller R K; Haller R G; Davidson E; Santorelli F M; Miranda A F; Bonilla E; Mojon D S; Barreira A A; King M P; DiMauro S
Mitochondrial encephalomyopathy with coenzyme Q10 deficiency.
Neurology 1997;48(5):1238-43.
-
1996: 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 1996;47(5):1320-3.
-
1996: 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 1996;15(2):145-9.
-
1996: Santorelli F M; Sciacco M; Tanji K; Shanske S; Vu T H; Golzi V; Griggs R C; Mendell J R; Hays A P; Bertorini T E; Pestronk A; Bonilla E; DiMauro S
Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients.
Annals of neurology 1996;39(6):789-95.
-
1996: 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 1996;39(5):914-7.
-
1996: 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 tRNA(Lys) gene (G8363A).
American journal of human genetics 1996;58(5):933-9.
-
1996: 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 1996;46(5):1329-34.
-
1996: 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 1996;19(1):43-50.
-
1995: Santorelli F M; Mak S C; Vàzquez-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 1995;216(3):835-40.
-
1995: 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 1995;213(2):588-93.
-
1994: 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 1994;44(5):972-4.
-
1994: Silvestri G; Santorelli F M; Shanske S; Whitley C B; Schimmenti L A; Smith S A; DiMauro S
A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.
Human mutation 1994;3(1):37-43.
-
1993: 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 1993;34(6):827-34.
-
1993: 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 1993;43(6):1200-6.
-
1993: Ciafaloni E; Santorelli F M; Shanske S; Deonna T; Roulet E; Janzer C; Pescia G; DiMauro S
Maternally inherited Leigh syndrome.
The Journal of pediatrics 1993;122(3):419-22.
Sign-in to see more
