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1

Drugs and mitochondrial diseases: 40 queries and answers

Mancuso, Michelangelo, Orsucci, Daniele, Filosto, Massimiliano, Simoncini, Costanza, Siciliano, Gabriele

Journal:

Expert Opinion on Pharmacotherapy

Year:

2012

Language:

english

File:

PDF, 398 KB

english, 2012

2

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition

Filosto, Massimiliano, Alberici, Antonella, Tessa, Alessandra, Padovani, Alessandro, Santorelli, Filippo M.

Journal:

Neurological Sciences

Year:

2013

Language:

english

File:

PDF, 278 KB

english, 2013

3

Muscle pain in mitochondrial diseases: a picture from the Italian network

Filosto, Massimiliano, Cotti Piccinelli, Stefano, Lamperti, Costanza, Mongini, Tiziana, Servidei, Serenella, Musumeci, Olimpia, Tonin, Paola, Santorelli, Filippo Maria, Simoncini, Costanza, Primiano,

Journal:

Journal of Neurology

Year:

2019

Language:

english

File:

PDF, 854 KB

english, 2019

4

Primary mitochondrial myopathy

Montano, Vincenzo, Gruosso, Francesco, Carelli, Valerio, Comi, Giacomo Pietro, Filosto, Massimiliano, Lamperti, Costanza, Mongini, Tiziana, Musumeci, Olimpia, Servidei, Serenella, Tonin, Paola, Toscan

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 448 KB

2020

5

New motor outcome function measures in evaluation of Late-Onset Pompe disease before and after enzyme replacement therapy

Corrado Angelini, Claudio Semplicini, Sabrina Ravaglia, Maurizio Moggio, Giacomo P. Comi, Olimpia Musumeci, Elena Pegoraro, Paola Tonin, Massimiliano Filosto, Serenella Servidei, Lucia Morandi, Grazia

Journal:

Year:

2012

Language:

english

File:

PDF, 781 KB

english, 2012

6

Hemangioma of the semimembranosus muscle in a patient with late-onset glycogenosis II

Cotelli, Maria Sofia, Todeschini, Alice, Vielmi, Valentina, Seddio, Claudio, Padovani, Alessandro, Filosto, Massimiliano

Journal:

Year:

2013

Language:

english

File:

PDF, 865 KB

english, 2013

7

Erythropoietin in amyotrophic lateral sclerosis: a multicentre, randomised, double blind, placebo controlled, phase III study

Lauria, Giuseppe, Dalla Bella, Eleonora, Antonini, Giovanni, Borghero, Giuseppe, Capasso, Margherita, Caponnetto, Claudia, Chiò, Adriano, Corbo, Massimo, Eleopra, Roberto, Fazio, Raffaella, Filosto, M

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2015

Language:

english

File:

PDF, 2.71 MB

english, 2015

8

Small Nerve Fiber Pathology in Critical Illness

Latronico, Nicola, Filosto, Massimiliano, Fagoni, Nazzareno, Gheza, Laura, Guarneri, Bruno, Todeschini, Alice, Lombardi, Raffaella, Padovani, Alessandro, Lauria, Giuseppe, Barnes, Steven

Journal:

Year:

2013

Language:

english

File:

PDF, 1.16 MB

english, 2013

9

Advances in Quantitative Imaging of Genetic and Acquired Myopathies: Clinical Applications and Perspectives

Paoletti, Matteo, Pichiecchio, Anna, Cotti Piccinelli, Stefano, Tasca, Giorgio, Berardinelli, Angela L., Padovani, Alessandro, Filosto, Massimiliano

Journal:

Frontiers in Neurology

Year:

2019

Language:

english

File:

PDF, 2.59 MB

english, 2019

10

Chronic inflammatory demyelinating polyradiculoneuropathy: Can we make a diagnosis in patients not fulfilling electrodiagnostic criteria?

Liberatore, Giuseppe, Manganelli, Fiore, Doneddu, Pietro Emiliano, Cocito, Dario, Fazio, Raffaella, Briani, Chiara, Filosto, Massimiliano, Benedetti, Luana, Mazzeo, Anna, Antonini, Giovanni, Cosentino

Journal:

European Journal of Neurology

Year:

2020

File:

PDF, 10.51 MB

2020

11

Progressive external ophthalmoplegia: A new family with tremor and peripheral neuropathy

Fuki M. Hisama, Michelangelo Mancuso, Massimiliano Filosto, Salvatore DiMauro

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 99 KB

english, 2005

12

Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies

Massimiliano Filosto, Michelangelo Mancuso, Cristofol Vives-Bauza, Maya R. Vilà, Sara Shanske, Michio Hirano, Antoni L. Andreu, Salvatore DiMauro

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 49 KB

english, 2003

13

P301L Tau mutation and non-Alzheimer dementias in Italy

Michelangelo Mancuso, Maria Leone, Massimiliano Filosto, Gloria Tognoni, Gabriele Siciliano, Paolo Nichelli, Luigi Murri

Journal:

Acta Neurologica Scandinavica

Year:

2003

Language:

english

File:

PDF, 61 KB

english, 2003

14

Transcription factors c-Jun/activator protein-1 and nuclear factor-kappa B in oxidative stress response in mitochondrial diseases

M. Filosto, P. Tonin, G. Vattemi, C. Savio, N. Rizzuto, G. Tomelleri

Journal:

Neuropathology and Applied Neurobiology

Year:

2003

Language:

english

File:

PDF, 913 KB

english, 2003

15

Ocular pseudomyasthenia: Report of a case with a pineal region tumor

B. Fierro, G. Croce, L. Filosto, N. Carbone, I. Lupo

Journal:

Neurological Sciences

Year:

1991

Language:

english

File:

PDF, 455 KB

english, 1991

16

Avoiding tunnel collisions between fibular collateral ligament and ACL posterolateral bundle reconstruction

Lawrence Camarda, Michele D′Arienzo, Giovanni Palermo Patera, Leone Filosto, Robert F. LaPrade

Journal:

Knee Surgery, Sports Traumatology, Arthroscopy

Year:

2011

Language:

english

File:

PDF, 379 KB

english, 2011

17

Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease)

Alessandro Simonati, Massimiliano Filosto, Chiara Savio, Giuliano Tomelleri, Paola Tonin, Bernardo Dalla Bernardina, Nicolo' Rizzuto

Journal:

Acta Neuropathologica

Year:

2003

Language:

english

File:

PDF, 822 KB

english, 2003

18

Spinal muscular atrophy and mitochondrial DNA depletion

M. Mancuso, M. Filosto, M. Hirano, S. DiMauro

Journal:

Acta Neuropathologica

Year:

2003

Language:

english

File:

PDF, 119 KB

english, 2003

19

Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation

Massimiliano Filosto, Michelangelo Mancuso, Giuliano Tomelleri, Nicolo’ Rizzuto, Bernardo Dalla Bernardina, Salvatore DiMauro, Alessandro Simonati

Journal:

Acta Neuropathologica

Year:

2004

Language:

english

File:

PDF, 352 KB

english, 2004

20

Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases

Massimiliano Filosto, Paola Tonin, Gaetano Vattemi, Michele Spagnolo, Nicolò Rizzuto, Giuliano Tomelleri

Journal:

Acta Neuropathologica

Year:

2002

Language:

english

File:

PDF, 160 KB

english, 2002

21

Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease

Alessandro Simonati, Massimiliano Filosto, Giuliano Tomelleri, Chiara Savio, Paola Tonin, Alberto Polo, Nicolò Rizzuto

Journal:

Journal of Neurology

Year:

2003

Language:

english

File:

PDF, 419 KB

english, 2003

22

The role of mitochondria in neurodegenerative diseases

Massimiliano Filosto, Mauro Scarpelli, Maria Sofia Cotelli, Valentina Vielmi, Alice Todeschini, Valeria Gregorelli, Paola Tonin, Giuliano Tomelleri, Alessandro Padovani

Journal:

Journal of Neurology

Year:

2011

Language:

english

File:

PDF, 1.65 MB

english, 2011

23

Cutis verticis gyrata, mental retardation and Lennox-Gastaut syndrome: a case report

M. Filosto, P. Tonin, G. Vattemi, L. G. Bongiovanni, N. Rizzuto, G. Tomelleri

Journal:

Neurological Sciences

Year:

2001

Language:

english

File:

PDF, 122 KB

english, 2001

24

Mitochondrial DNA-related Disorders

Michelangelo Mancuso, Massimiliano Filosto, Anna Choub, Marta Tentorio, Laura Broglio, Alessandro Padovani, Gabriele Siciliano

Journal:

Bioscience Reports

Year:

2007

Language:

english

File:

PDF, 129 KB

english, 2007

25

Neuropathology of mitochondrial diseases

Massimiliano Filosto, Giuliano Tomelleri, Paola Tonin, Mauro Scarpelli, Gaetano Vattemi, Nicolò Rizzuto, Alessandro Padovani, Alessandro Simonati

Journal:

Bioscience Reports

Year:

2007

Language:

english

File:

PDF, 345 KB

english, 2007

26

Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy

Massimiliano Filosto, Mauro Scarpelli, Paola Tonin, Silvia Testi, Maria Sofia Cotelli, Mara Rossi, Andrea Salvi, Alberto Grottolo, Valentina Vielmi, Alice Todeschini, Gian Maria Fabrizi, Alessandro Pa

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 253 KB

english, 2011

27

Environmentally relevant cadmium concentrations affect development and induce apoptosis ofParacentrotus lividuslarvae cultured in vitro

Simone Filosto, Maria Carmela Roccheri, Rosa Bonaventura, Valeria Matranga

Journal:

Cell Biology and Toxicology

Year:

2008

Language:

english

File:

PDF, 337 KB

english, 2008

28

Expression of late myogenic differentiation markers in sarcoplasmic masses of patients with myotonic dystrophy

G. Vattemi, G. Tomelleri, M. Filosto, C. Savio, N. Rizzuto, P. Tonin

Journal:

Neuropathology and Applied Neurobiology

Year:

2005

Language:

english

File:

PDF, 277 KB

english, 2005

29

McArdle disease and sporadic inclusion body myositis

M. Scarpelli, G. Vattemi, M. Filosto, S. Krause, M. Marini, G. Tomelleri, P. Tonin

Journal:

Neuropathology and Applied Neurobiology

Year:

2009

Language:

english

File:

PDF, 382 KB

english, 2009

30

A non-syndromic hearing loss caused by very low levels of the mtDNA A3243G mutation

M. Mancuso, M. Filosto, F. Forli, A. Rocchi, S. Berrettini, G. Siciliano, L. Murri

Journal:

Acta Neurologica Scandinavica

Year:

2004

Language:

english

File:

PDF, 97 KB

english, 2004

31

Mitochondrial diseases: a nosological update

M. Filosto, M. Mancuso

Journal:

Acta Neurologica Scandinavica

Year:

2007

Language:

english

File:

PDF, 515 KB

english, 2007

32

Increased Expression of the Normal Cellular Isoform of Prion Protein in Inclusion-Body Myositis, Inflammatory Myopathies and Denervation Atrophy

Gianluigi Zanusso, Gaetano Vattemi, Sergio Ferrari, Massimo Tabaton, Elisa Pecini, Tiziana Cavallaro, Giuliano Tomelleri, Massimiliano Filosto, Paola Tonin, Ettore Nardelli, Nicola Rizzuto, Salvatore

Journal:

Brain Pathology

Year:

2001

Language:

english

File:

PDF, 360 KB

english, 2001

33

Electron transfer mediators and other metabolites and cofactors in the treatment of mitochondrial dysfunction

Daniele Orsucci, Massimiliano Filosto, Gabriele Siciliano, Michelangelo Mancuso

Journal:

Nutrition Reviews

Year:

2009

Language:

english

File:

PDF, 278 KB

english, 2009

34

Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4

Angelini, C., Semplicini, C., Ravaglia, S., Bembi, B., Servidei, S., Pegoraro, E., Moggio, M., Filosto, M., Sette, E., Crescimanno, G.

Journal:

Journal of Neurology

Year:

2012

Language:

english

File:

PDF, 250 KB

english, 2012

35

EGF Receptor Activation Under Oxidative Stress is Ligand Independent and Proceeds Without Dimerization

Tzipora Goldkorn, Elaine Khan, Simone Filosto, Emiliana Tognon, Cathleen Becker

Journal:

Free Radical Biology and Medicine

Year:

2010

Language:

english

File:

PDF, 385 KB

english, 2010

36

Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: Report of a family

Michelangelo Mancuso, Giulia Ricci, Anna Choub, Massimiliano Filosto, Salvatore DiMauro, Guido Davidzon, Alessandra Tessa, Filippo M. Santorelli, Luigi Murri, Gabriele Siciliano

Journal:

Journal of Affective Disorders

Year:

2008

Language:

english

File:

PDF, 186 KB

english, 2008

37

T-cell anti-apoptotic mechanisms in inflammatory myopathies

Gaetano Vattemi, Paola Tonin, Massimiliano Filosto, Michele Spagnolo, Nicolo’ Rizzuto, Giuliano Tomelleri

Journal:

Journal of Neuroimmunology

Year:

2000

Language:

english

File:

PDF, 917 KB

english, 2000

38

MERRF syndrome without ragged-red fibers: The need for molecular diagnosis

Michelangelo Mancuso, Lucia Petrozzi, Massimiliano Filosto, Claudia Nesti, Anna Rocchi, Anna Choub, Sabina Pistolesi, Roberto Massetani, Gabriella Fontanini, Gabriele Siciliano

Journal:

Biochemical and Biophysical Research Communications

Year:

2007

Language:

english

File:

PDF, 320 KB

english, 2007

39

Involvement of the central nervous system myelin in a POEMS patient

Laura Broglio, Maria Sofia Cotelli, Chiara Cattaneo, Giuseppe Rossi, Marta Tentorio, Valeria Gregorelli, Valentina Vielmi, Alice Todeschini, Marco Benelle, Alessandro Padovani, Massimiliano Filosto

Journal:

Clinical Neurology and Neurosurgery

Year:

2011

Language:

english

File:

PDF, 309 KB

english, 2011

40

Mitochondrial DNA haplogroups do not influence the Huntington's disease phenotype

Michelangelo Mancuso, Lorenzo Kiferle, Lucia Petrozzi, Claudia Nesti, Anna Rocchi, Roberto Ceravolo, Daniele Orsucci, Maria Rosaria Maluccio, Ubaldo Bonuccelli, Massimiliano Filosto, Gabriele Sicilian

Journal:

Neuroscience Letters

Year:

2008

Language:

english

File:

PDF, 127 KB

english, 2008

41

M.P.1.13 Novel mitochondrial tRNA LEU(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype

M. Filosto, P. Tonin, M. Scarpelli, C. Savio, M. Mancuso, R. Tupler, G. Vattemi, G. Tomelleri

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 47 KB

english, 2007

42

M.P.3.13 Vascular endothelium involvement in mitochondrial diseases

G. Vattemi, P. Minuz, L. Grigoli, A. Meneguzzi, P. Tonin, M. Marini, M. Degan, D. Benedetti, M. Filosto, N. Rizzuto, A. Lechi, G. Tomelleri

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 63 KB

english, 2007

43

C.P.1.02 Clinical and histopathological evolution of a calpain-3 deficiency presenting as congenital fiber type disproportion

G. Vattemi, F. Gualandi, P. Tonin, P. Rimessi, M. Marini, M. Filosto, A. Ferlini, G. Tomelleri

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 48 KB

english, 2007

44

Novel mitochondrial tRNALeu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype

Massimiliano Filosto, Paola Tonin, Mauro Scarpelli, Chiara Savio, Francesca Greco, Michelangelo Mancuso, Gaetano Vattemi, Vittorio Govoni, Nicolò Rizzuto, Rossella Tupler, Giuliano Tomelleri

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 754 KB

english, 2008

45

G.P.3.11 Increased protein nitration in mitochondrial diseases: Evidence for vessel wall involvement

G. Vattemi, Y. Mechref, M. Marini, P. Tonin, P. Minuz, L. Grigoli, Klouckova, C. Chiamulera, A. Meneguzzi, M. Di Chio, V. Tedesco, L. Lovato, M. Degan, M. Filosto, G. Arcaro, M. Riccadonna, V. Gugliel

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

46

Decreased platelet cytochrome c oxidase activity is accompanied by increased blood lactate concentration during exercise in patients with Alzheimer disease

Michelangelo Mancuso, Massimiliano Filosto, Francesca Bosetti, Roberto Ceravolo, Anna Rocchi, Gloria Tognoni, Maria Laura Manca, Giancarlo Solaini, Gabriele Siciliano, Luigi Murri

Journal:

Experimental Neurology

Year:

2003

Language:

english

File:

PDF, 107 KB

english, 2003

47

A new mutation in the mitochondrial tRNAAla gene in a patient with ophthalmoplegia and dysphagia

M Spagnolo, G Tomelleri, G Vattemi, M Filosto, N Rizzuto, P Tonin

Journal:

Neuromuscular Disorders

Year:

2001

Language:

english

File:

PDF, 187 KB

english, 2001

48

Anaemia in cancer: pathophysiology and treatment

S. Mercadante, V. Gebbia, A. Marrazzo, S. Filosto

Journal:

Cancer Treatment Reviews

Year:

2000

Language:

english

File:

PDF, 169 KB

english, 2000

49

Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy

Filosto, Massimiliano, Scarpelli, Mauro, Tonin, Paola, Lucchini, Giovanna, Pavan, Fabio, Santus, Francesca, Parini, Rossella, Donati, Maria Alice, Cotelli, Maria Sofia, Vielmi, Valentina, Todeschini,

Journal:

Journal of Neurology

Year:

2012

Language:

english

File:

PDF, 374 KB

english, 2012

50

Antimyoclonic effect of levetiracetam in MERRF syndrome

Michelangelo Mancuso, Renato Galli, Chiara Pizzanelli, Massimiliano Filosto, Gabriele Siciliano, Luigi Murri

Journal:

Journal of the Neurological Sciences

Year:

2006

Language:

english

File:

PDF, 76 KB

english, 2006