Pubblicazioni scientifiche e Comunicazioni a Congressi prodotte con il sostegno della Fondazione *

Casper Jansen, Piero Parchi, Sabina Capellari, Ad J. Vermeij, Patrizia Corrado, Frank Baas, Rosaria Strammiello, Willem A. van Gool, John C. van Swieten, Annemieke J. M. Rozemuller.
Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP
Acta Neuropathol (2010) 119:189–197 .

Piero Parchi, Rosaria Strammiello, Silvio Notari, Armin Giese, Jan P. M. Langeveld, Anna Ladogana, Inga Zerr, Federico Roncaroli, Patrich Cras, Bernardino Ghetti, Maurizio Pocchiari, Hans Kretzschmar, Sabina Capellari.
Incidence and spectrum of sporadic Creutzfeldt–Jakob disease variants with mixed phenotype and co-occurrence of PrPSc types: an updated classification.
Acta Neuropathol (2009) 118:659–671 .

Elisa Baldin, Sabina Capellari, Federica Provini, Patrizia Corrado, Rocco Liguori, Piero Parchi, Pasquale Montagna, Pietro Cortelli.
A case of fatal familial insomnia in Africa.
J Neurol (2009) 256:1778–1779 .

Valerio Carelli, Chiara La Morgia, Maria Lucia Valentino, Piero Barboni, Fred N. Ross-Cisneros, Alfredo A. Sadun.
Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders.
Biochimica et Biophysica Acta 1787 (2009) 518 –528

Filippo Fortuna, Piero Barboni, Rocco Lig uori, Maria Lucia Valentino, Giacomo Savini, Cinzia Gellera, Caterina Mariotti, Giovanni Rizzo, CaterinaTonon, David Manners, Raffaele Lodi, Alfredo A Sadun, Valerio Carelli
Visual system involvement in patients with Friedreich’s ataxia.
Brain 2009 132: 116-123

Carla Giordano, Mariangela Sebastiani, Roberto De Giorgio, Claudia Travaglini, Andrea Tancredi, Maria Lucia Valentino, Marzio Bellan, Andrea Cossarizza, Michio Hirano, Giulia d’Amati, Valerio Carelli.
Gastrointestinal Dysmotility in Mitochondrial Neurogastrointestinal Encephalomyopathy Is Caused by Mitochondrial DNA Depletion.
American Journal of Pathology, 2008; 173(4); 1120-8.

C. La Morgia, A. Achilli, L. Iommarini, P. Barboni, M. Pala, A. Olivieri, C. Zanna, S. Vidoni, C. Tonon, R. Lodi, R. Vetrugno, B. Mostacci, R. Liguori, R. Carroccia, P. Montagna, M. Rugolo, A. Torroni and V. Carelli.
Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus
Neurology 2008;70;762-770;

Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein Belen , Boissiere A, Campos Y, Rivera H, de la Aleja JG, Carroccia, R, Iommarini L, Labauge P, Figarella-Branger D; Marcorelles P, Furby A, Beauvais K, Letournel F, Liguori R, La Morgia C, Montagna P, Liguori, M, Zanna C, Rugolo M, Cossarizza A, Wissinger B, Verny C, Schwarzenbacher R, Martin MA, Arenas J, Ayuso C, Garesse R, Lenaers G, Bonneau D, Carelli V.
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.
Brain 2008 131(2):338-351.

Capellari S, Parchi P, Cortelli P, Avoni P, Casadei GP, Bini C, Baruzzi A, Lugaresi E, Pocchiari M, Gambetti P, Montagna P.  
Sporadic fatal insomnia in a fatal familial insomnia pedigree. 
Neurology. 2008 Mar 11;70(11):884-5.

Carelli V, La Morgia C, Iommarini L, Carroccia R, Mattiazzi M, Sangiorgi S, Farne' S, Maresca A, Foscarini B, Lanzi L, Amadori M, Bellan M, Valentino ML.
Mitochondrial Optic Neuropathies: How Two Genomes may Kill the Same Cell Type?
Biosci Rep. 2007 Jun;27(1-3):173-84.  

Giordano C, Sebastiani M, Plazzi G, Travaglini C, Sale P, Pinti M, Tancredi A, Liguori R, Montagna P, Bellan M, Valentino ML, Cossarizza A, Hirano M, d'Amati G, Carelli V.
Mitochondrial Neurogastrointestinal Encephalomyopathy: Evidence of Mitochondrial DNA Depletion in the Small Intestine
GASTROENTEROLOGY 2006;130:893–901

Valentino ML, Barboni P, Rengo C, Achilli A, Torroni A, Lodi R, Tonon C, Barbiroli B, Fortuna F, Montagna P, Baruzzi A, Carelli V.
The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype.
J Med Genet. 2006 Jul;43(7):e38. 

Carelli V, Achilli A, Valentino ML, Rengo C, Semino O, Pala M, Olivieri A, Mattiazzi M, Pallotti F, Carrara F, Zeviani M, Leuzzi V, Carducci C, Valle G, Simionati B, Mendieta L, Salomao S, Belfort R Jr, Sadun AA, Torroni A.  
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.
Am J Hum Genet. 2006 Apr;78(4):564-74. 

Capellari S, Cardone F, Notari S, Schinina ME, Maras B, Sita D, Baruzzi A, Pocchiari M, Parchi P.
Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene.
Neurology. 2005 Mar 8;64(5):905-7.

Zeviani M, Carelli V. 
Dominance in mitochondrial disorders.
J Inherit Metab Dis. 2005;28(3):287-99. 

Ghezzi D, Marelli C, Achilli A, Goldwurm S, Pezzoli G, Barone P, Pellecchia MT, Stanzione P, Brusa L, Bentivoglio AR, Bonuccelli U, Petrozzi L, Abbruzzese G, Marchese R, Cortelli P, Grimaldi D, Martinelli P, Ferrarese C, Garavaglia B, Sangiorgi S, Carelli V, Torroni A, Albanese A, Zeviani M.  
Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.
Eur J Hum Genet. 2005 Jun;13(6):748-52.

Lodi R, Tonon C, Valentino ML, Iotti S, Clementi V, Malucelli E, Barboni P, Longanesi L, Schimpf S, Wissinger B, Baruzzi A, Barbiroli B, Carelli V.
Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy.
Ann Neurol. 2004 Oct 25;56(5):719-723 

Valentino ML, Barboni P, Ghelli A, Bucchi L, Rengo C, Achilli A, Torroni A, Lugaresi A, Lodi R, Barbiroli B, Dotti M, Federico A, Baruzzi A, Carelli V.
The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy.
Ann Neurol. 2004 Oct 25;56(5):631-641 

Parchi P, Notari S, Strammiello S, Capellari S. 
Further advances in the molecular and pathological diagnosis of sporadic Creutzfeldt-Jakob disease subtypes.
International Symposium on Prion Diseases, Sendai, Japan October 31- November 2, 2004, Abstract Book pag.7.

Zeviani M, Carelli V. 
Mitochondrial DNA and OKPHOS Disorders. 
In:  Oxidative Phosphorylation in Health and Disease; Jan A. M. Smeitink, Rob C. A. Sengers, J. M. Frans Trijbels (eds.), Springer, 2004, pagg- 95-127.

Notari S, Capellari S, Giese A, Westner I, Baruzzi A, Ghetti B, Gambetti P, Kretzschmar HA, Parchi P.
Effects of different experimental conditions on the PrPSc core generated by protease digestion: Implications for strain typing and molecular classification of CJD.
J Biol Chem. 2004 Apr 16;279(16):16797-804

Mancuso M, Filosto M, Bellan M, Liguori R, Montagna P, Baruzzi A, DiMauro S, Carelli V.
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.
Neurology. 2004 Jan 27;62(2):316-8.

Carelli V, Ross-Cisneros FN, Sadun AA.
Mitochondrial dysfunction as a cause of optic neuropathies.
Prog Retin Eye Res. 2004 Jan;23(1):53-89.

Kong Q, Surewicz WK, Petersen RB, Zou W, Chen SG, Gambetti P, Parchi P, Capellari S, Goldfarb L, Montagna P, Lugaresi E, Piccardo P, Ghetti B.
INHERITED PRION DISEASES 
In: Prion Biology and Diseases, Second Edition (Cold Spring Harbor Monograph Series 41) Eds: Prusiner SB. Cold Spring Harbor Laboratory Press, 2004, cap. 14.

S. Capellari, P.Parchi, D. Bennet, E. Cochran, RB Petersen, A Baruzzi, P. Gambetti. 
“CJD ASSOCIATED WITH THE T183A MUTATION IN THE PRION PROTEIN GENE”.
Neurological Sciences 2003, 24:S53.(abstract)

Contin M, Martinelli P, Riva R, Dondi M, Fanti S, Pettinato C, Scaglione C, Albani F, Baruzzi A.
Assessing dopaminergic function in Parkinson's disease: levodopa kinetic-dynamic modeling and SPECT.
J Neurol. 2003 Dec;250(12):1475-81.

Zeviani M, Carelli V.
Mitochondrial disorders.
Curr Opin Neurol. 2003 Oct;16(5):585-94

Carelli V, Giordano C, d'Amati G.      
Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction.
Trends Genet. 2003 May;19(5):257-62.

Zeviani M, Spinazzola A, Carelli V.       
Nuclear genes in mitochondrial disorders.
Curr Opin Genet Dev. 2003 Jun;13(3):262-70.

Capellari S, Parchi P, Wolff BD, Campbell J, Atkinson R, Posey DM, Petersen RB, Gambetti P.
Creutzfeldt-Jakob disease associated with a deletion of two repeats in the prion protein gene.
Neurology. 2002 Nov 26;59(10):1628-30.

Valentino ML, Avoni P, Barboni P, Pallotti F, Rengo C, Torroni A, Bellan M, Baruzzi A, Carelli V.
Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy.
Ann Neurol. 2002 Jun;51(6):774-8.

Carelli V, Ross-Cisneros FN, Sadun AA.
Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies.
Neurochem Int. 2002 May;40(6):573-84.

Capellari S, Parchi P, Petersen RB, Baruzzi A, P Gambetti
"DEMENTIAS RELATED TO INSERTIONS AND DELETION IN THE REPEATS REGION OF THE PRION PROTEIN "
Journal of Neurological Science 2002;23:S25. (abstract)

Carelli V, Baracca A, Barogi S, Pallotti F, Valentino ML, Montagna P, Zeviani M, Pini A, Lenaz G, Baruzzi A, Solaini G.
Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation.
Arch Neurol. 2002 Feb;59(2):264-70.

Capellari S, A Ladogana, G Volpi,  F Roncaroli, D Sità, Baruzzi A, M Pocchiari, P Parchi.
"FIRST REPORT OF THE R208H-129MM HAPLOTYPE IN THE PRION PROTEIN GENE IN AN EUROPEAN SUBJECT WITH CJD" .
Journal of Neurological Science 2001;22:S109. (abstract)

* in grassetto ricercatori che afferiscono al Dipartimento di Scienze Neurologiche, Università di Bologna.