Tenure Permanent Researcher

Chief of the Laboratory of Neurogenetics, Mitochondrial study group,

Department of Neurological Sciences,

University of Bologna School of Medicine,.

++39 051 209 2747 (office)

++39 051 209 2744-43-42 (laboratory)

++39 051 209 2751 (fax)



Born 08/08/1959 Ancona, Italy.

Nationality: Italian.

Language fluency in: Italian, English.


1990- Degree in Medicine, University of Bologna School of Medicine.

Final mark: 110/110 cum laudae. Thesis: “Leber's Hereditary Optic Neuropathy: familial

study by restriction polymorphisms of DNA.”

1990-1994- Residency in Neurology, University of Bologna School of Medicine.

Final mark: 70/70 cum laudae. Thesis: “Leber's Hereditary Optic Neuropathy: molecular

and biochemical analysis of mitochondrial subunits of NADH - dehydrogenase.”

1994-1998- PhD in Neuroscience, University of Verona School of Medicine.

Thesis: “Leber’s Hereditary Optic Neuropathy: investigations on its pathogenesis at

biochemical, cellular and morphological level.”


1998-2001- Research Associate, Department of Ophthalmology, Doheny Eye Institute,

Keck School of Medicine of the University of Southern California, Los Angeles,

California, USA.

2001-Present – Tenure Permanent Researcher, Chief of the Laboratory of Neurogenetics,

Department of Neurological Sciences, University of Bologna School of Medicine,

Bologna, Italy.

July 1, 2003-Present - Research Assistant Professor of Ophthalmology, Department of

Valerio Carelli, MD, PhD 2

Ophthalmology, Doheny Eye Institute, Keck School of Medicine of the University of

Southern California, Los Angeles, California, USA.


1990-1994-(Bologna, Residency in Neurology)

Since 1990 I have been participating in clinical activities at the Neurological Division of

the Institute of Neurology, University of Bologna, run by Prof. Elio Lugaresi. During the

same period I also undertook intense training in molecular biology, participating in

research projects and molecular diagnosis on mitochondrial diseases at the Laboratory of

Neurogenetics at the same institution.

This period coincided with the rapid development of mitochondrial medicine after the

seminal identification of mitochondrial DNA (mtDNA) defects underlying Leber’s

hereditary optic neuropathy (LHON) and mitochondrial myopathies in 1988. At the

Institute of Neurology we observed the first Italian cases of LHON, mitochondrial

encephalomyopathy, lactic acidosis, stroke-like syndrome (MELAS), neuropathy, ataxia,

retinitis pigmentosa (NARP), identifying the causative mtDNA mutations.

Within the framework of this research activity, a collaborative effort with the

Biochemistry Department was started, in particular with Dr. Mauro Degli Esposti, an

expert in respiratory complex I. The availability of a few pedigrees with LHON carrying

different mutations affecting complex I represented an important opportunity to apply

basic enzymology to study a human disorder. The first results were published in FEBS

Lett (Degli Esposti et al. 1994 Oct 3;352(3):375-9).

Another important collaboration established in the same period was with Dr. Andrea

Martinuzzi (University of Padova), who had the availability of the new cellular model

called cybrids (transmitochondrial cytoplasmic hybrids), imported from the Giuseppe

Attardi’s lab at Caltech, Pasadena, CA, USA. We first applied the cybrid model to study

LHON and this study was published in Biochem Biophys Res Commun (1995 May

25;210(3):880-8). The construction and study of the LHON cybrid cell lines was

supported by a Telethon-Italy grant (Project # 391, grant to Prof. Elio Lugaresi

1993-1994: Title "Molecular-biochemical pathophysiology of mitochondrial DNA

mutations associated with Leber's Hereditary Optic Neuropathy (LHON)") and I was

awarded a one-year fellowship (1993-1994).

1994-1998-(Bologna/Verona, PhD in Neuroscience)

The focus of my PhD studies was mitochondrial genetics and the investigation of disease

pathophysiology, in particular of LHON.

The previously established collaborative projects were expanded and the collection of

positively diagnosed families was remarkably increased. A large-scale investigation of

biochemical features in LHON patients carrying the different mtDNA mutations, was

supported by a Telethon-Italy grant (Project # 616, grant to Dr. Mauro Degli Esposti

1995-1996: Title "Elucidation of the biochemical defects in human diseases associated

with missense point mutations of mitochondrial DNA: a basis for therapeutical

strategies"). I was awarded a one-year fellowship (1995-1996) and during this period I

spent four months at the Centre for Molecular Biology and Medicine, Monash University,

Clayton, Victoria, Australia. The results of this study at both the enzymological level and

Valerio Carelli, MD, PhD 3

using specific complex I inhibitors, were published in two separate papers in Neurology

(1997 Jun;48(6):1623-32) and Ann Neurol (1999 Mar;45(3):320-8), respectively.

The use of the coenzyme Q analog idebenone as a therapeutical agent in LHON was

studied biochemically in vitro, and used experimentally in vivo in patients. The results of

these investigations were published respectively in Arch Biochem Biophys (1996 Jun

15;330(2):395-400) and J Neurol Sci (1997 May 1;148(1):25-31).

A new line of investigation, based on the analysis of population-specific variants of

mtDNA defining the so-called mtDNA haplogroups, was established collaborating with

Prof. Antonio Torroni (University of Rome “La Sapienza”). A specific association of two

LHON mutations (nucleotides 11778 and 14484) with mtDNA haplogroup J was

described and the implications for LHON expression were explored. These population

genetic studies were published in Am J Hum Genet (1996 Jul;59(1):248-52; 1997


The investigation of male prevalence in LHON was also pursued, in collaboration with

Dr. Elena Pegoraro (University of Pittsburgh), testing for the existence of an X-linked

modifying gene by studying the X-inactivation pattern in LHON affected females. This

study was published in Am J Med Genet (1996 Feb 2;61(4):356-62).

The construction of LHON cybrid cell lines was a major line of research during this time

and this project was supported by a Telethon-Italy grant (Project # 792, grant to Prof.

Elio Lugaresi 1996-1998: "In vitro phenotypic expression of the mtDNA point mutations

associated with Leber's Hereditary Optic Neuropathy (LHON)"). Extensive studies on

cellular features related to the LHON mutations, using the cybrid model, were carried

out. The results of these studies were subsequently published.

1998-2001-(Los Angeles, Research Assistant at Doheny Eye Institute, USC School of


In March 1998 I moved to Los Angeles to continue the in depth investigation of LHON,

taking advantage of an opportunity to investigate a collection of autopsy specimens from

some LHON patients under the supervision of Prof. Alfredo A. Sadun. The results of

these extensive studies were published in various papers, reviews and book chapters, and

are still the object of ongoing projects. For example, some sets of data were published in

Trans Am Ophthalmol Soc (2000;98:223-32), Ophthalmology (2002 Jun;109(6):1085-

1091), and Neurochem Int (2002 May;40(6):573-84).

At this time I also started studying the genetic/biochemical features of another

mitochondrial syndrome called NARP and of Leigh syndrome, both determined by

different loads of the same mtDNA mutation, in collaboration with Prof. Giancarlo

Solaini (Scuola Superiore Sant’Anna, Pisa, Italy). We set up various biochemical assays

to test the function of proton transport through the ATP synthase and its coupling with

the catalytic activity hydrolizing and synthesizing ATP in the presence of the mtDNA

point mutation T8993G. The results of this project were published in J Biol Chem (2000

Feb 11;275(6):4177-82) and Arch Neurol (2002 Feb;59(2):264-70). These studies were

supported by a Telethon-Italy grant (Project # 1048, grant to Prof. Giancarlo Solaini

1998-1999: "mtDNA encoded ATPase6 subunit: pathogenetic role of the T8993G


During this same period some of the ongoing projects on LHON cybrids came to an end,

in particular the first approach to investigate apoptotic cell death in collaboration with

Valerio Carelli, MD, PhD 4

Prof. Gino Cortopassi (UCDavis), which was published in J Biol Chem (2002 Feb

22;277(8):5810-5). In the year 2000 I also spent a few months working at Columbia

University (NYC) collaborating on a project of gene therapy led by Prof. John Guy and

Prof. Eric Schon, aimed to recode the defective mtDNA genes implicated in NARP

(8993/ATPase6 mutation) and LHON (11778/ND4 mutation) using the nuclear genetic

code, in order to transfect with a specific construct inserted in an adeno-associated virus

NARP or LHON cybrids, express the corrected protein in the nucleus, import the protein

in the mitochondria and rescue the pathological cellular phenotype. The LHON study was

published in Ann Neurol (2002 Nov;52(5):534-42).

2001-now-(Bologna, Tenure Permanent Researcher at the Department of

Neurological Sciences, University of Bologna).

In June 2001 I got a permanent position at the Department of Neurological Sciences,

University of Bologna, and I was funded by Telethon-Italy as a co-contractor with Prof.

Solaini for the NARP/Leigh studies (Project # GP0280/01, grant to Prof. Giancarlo

Solaini 2001-2003: "Pathogenetic role and biochemical dysfunctions associated with

mtDNA ATPase6 gene mutations"), and as principal investigator and coordinator of a

four laboratories network (Dr. Valerio Carelli, Dept. of Neuroscience, University of

Bologna; Dr. Anna Ghelli, Dept. of Biology, University of Bologna; Dr. Alessandra

Baracca, Dept. of Biochemistry, University of Bologna; Dr. Andrea Martinuzzi, Dept. of

Farmacology, University of Padua) for the LHON cybrid studies (Project # GGP02323,

grant to Dr. Valerio Carelli 2002-2004: "Leber's hereditary optic neuropathy: systematic

investigation of energy depletion and oxidative stress, and their relevance to cell death,

using cybrid cell lines with 11778, 3460, 14484, and 14459 mutant mitochondria."- Euro

177.000,00 for 2 years).

Since my return to Italy I have continued studies on LHON cybrids at multiple levels.

The study of cybrids carrying different mtDNA haplogroups was published in Biochim

Biophys Acta (2002 Oct 9;1588(1):7-14). We also set up a model of apoptotic cell death

substituting glucose with galactose in the cell culture medium. This is a well-established

method to force cells to rely only on respiratory chain for ATP synthesis. Under these

conditions LHON cybrids die of apoptosis, which is now proven to be a caspaseindependent

process, despite the cytochrome c release, because of a rapid ATP depletion

and mitochondrial release of other proapoptotic factors such as AIF and EndoG. These

results were published in J Biol Chem (2003 Feb 7;278(6):4145-50), Ann NY Acad Sci

(2003 Dec;1010:213-217), Biochim Biophys Acta (2004 Jul 23;1658(1-2):172-9) and

Apoptosis (2005 Oct;10(5):997-1007). Further projects using the LHON cybrids

investigated the influence of complex I defect and glutamate transport published in Brain

(2004 Oct;127(Pt 10):2183-2192) and the relationship linking complex I defects, either

biochemically induced or of genetic origin, and cardiolipin and cytochrome c, which will

appear soon in Proc Nat Acad Sci USA (2005; in press).

A large-scale mutation analysis project still ongoing is aimed at identifying new mtDNA

mutations in LHON and mitochondrial encephalomyoapthies. A few studies have already

been published in Ann Neurol (2002 Jun;51(6):774-8), Ann Neurol (2004 Oct

25;56(5):631-641), and J Med Genet (2005; in press).

Since the year 2001, I also participate, as neurogeneticist, every year in an annual field

investigation in rural Brazil, in conjunction with Prof. Alfredo A. Sadun (USC, Los

Valerio Carelli, MD, PhD 5

Angeles) and Prof. Ruben Belford Jr. (Federal University, Sao Paolo). We follow at the

genetic, clinical and therapeutic level one of the most extended LHON pedigrees reported

in recent times. Some reports on this project have already been published in Am J

Ophthalmol (2003 Aug;136(2):231-8; 2004 Feb;137(2):271-7) and Doc Ophthalmol

(2004 Mar;108(2):147-155). I have collected DNA samples from nearly all the circa 350

people belonging to the pedigree, and after the initial segregation analysis indicating the

possible existence of a nuclear modifying gene I am now undertaking the search of such a

gene by a multiple approach including the linkage analysis, the screening of candidate

genes and a microarray study on cell lines to add possible candidates. Preliminary ideas

on this large project have already been published as an opinion article in Trends Genet

(2003 May;19(5):257-62). The microarray study on LHON cell lines, carried out in

collaboration with Prof. Gino Cortopassi (UCDavis), is now published in Brain (2005

May;128(Pt 5):1026-1037).

A further upcoming large project is the screening of a collection of Italian pedigrees with

dominant optic atrophy (DOA) for mutations in the recently identified OPA1 gene. I have

already collected a few of these OPA1-related DOA families and we are now intensively

studying the pathophysiological consequences of mutant OPA1 gene product on

fission/fusion of mitochondria, as well as bioenergy and apoptosis. The first results have

already been published in Ann Neurol (2004 Oct 25;56(5):719-723). One of the families

under investigation, affected with optic atrophy and deafness and no OPA1 mutation, has

resulted not linked to the OPA1 locus and after a genome-wide screening we have

identified a new locus for this disorder and we are intensively working to locate the

responsible gene. All the DOA studies are carried out in tight collaboration with the

group of Prof. Bernd Wissinger (University of Tuebingen, Germany) and Prof. Richard

Youle (NIH, Bethesda).

Other projects that have been pursued are the elucidation of the genetic causes of

syndromic progressive external ophthalmoplegia (PEO) due to defects in nuclear genes

involved in mtDNA replication, such as POLG and tymidine phosphorylase. The results

of these studies are now published in Neurology (2004 Jan 27; 62(2): 316-318), Graefes

Arch Clin Exp Ophthalmol (2004 Oct;242(10):878-880), and Gastroenterology (2005; in


Projects focused on the mtDNA haplogroups influence in neurodegerative diseases, such

as Parkinson Disease, and the use of mtDNA haplogroups as a tool for population genetic

studies have been also published in Eur J Hum Genet (2005 Apr 13;1-5) and Am J Hum

Genet (2004 Nov;75(5):910-918).

The possibility that mtDNA haplogroup-related variants may influence the mitochondrial

toxicity of certain antibiotics has been the object of a grant proposal entitled “Cybrids as

a tool to investigate the influence of mitochondrial DNA haplogroups on cellular

sensitivity to Zyvox (Linezolid-Oxazolidinone class of antibiotics)”, which has been

recently approved by Pfizer and funded with 103.000 US $.

To conclude, in the last years I frequently participated in review projects published in

Neurochem Int (2002 May;40(6):573-84), Curr Opin Genet Dev (2003 Jun;13(3):262-

70), Curr Opin Neurol (2003 Oct;16(5):585-94), Prog Retin Eye Res (2004 Jan;23(1):53-

89) and J Inherit Metab Dis (2005;28(3):287-299).

Valerio Carelli, MD, PhD 6


Since 1994 I have held seminars on mitochondrial genetics for the following residency

programs: Neurology, Infantile Neuropsychiatry, Applied Genetics, Cardiology.

Since 2001 I have taught the course "Neurometabolic diseases II" for the residency

programs in Neurology, Infantile Neuropsychiatry, and Medical Genetics.

I am currently teaching the program “Genetic basis of Neurological Diseases” for

students studying Biotechnology at the University of Bologna.

I have supervised numerous undergraduate thesis preparations.


2000-Allergan (Brimonidine)

2004-Pfizer (Linezolid)

2005-Pfizer (Linezolid)

2005-Pfizer (Linezolid)

Valerio Carelli, MD, PhD 7

Valerio Carelli, MD, PhD – Published PubMed indexed, in press and under revision



Gasparre G, Iommarini L, Porcelli AM, Lang M, Ferri GG, Kurelac I, Mariani E, Pennini

LF, Pasquini E, Pasquinelli G, Ghelli A, Bonora E, Ceccarelli C, Rugolo M, Salfi N,

Romeo G, Carelli V.

An inherited mitochondrial DNA disruptive mutation preferentially selected in oncocytic

tumor cells.

Hum Mut. 2008; accepted after revision.

Carelli V, Bellan M.

Myelin, mitochondria, and autoimmunity: What's the connection?

Neurology. 2008 Mar 25;70(13 Pt 2):1075-6.

Shankar SP, Fingert JH, Carelli V, Valentino ML, King TM, Daiger SP, Salomao

SR, Berezovsky A, Belfort R Jr, Braun TA, Sheffield VC, Sadun AA, Stone EM.

Evidence for a novel x-linked modifier locus for leber hereditary optic


Ophthalmic Genet. 2008 Mar;29(1):17-24.

Bellusci C, Savini G, Carbonelli M, Carelli V, Sadun AA, Barboni P.

Retinal nerve fiber layer thickness in nonarteritic anterior ischemic optic

neuropathy: OCT characterization of the acute and resolving phases.

Graefes Arch Clin Exp Ophthalmol. 2008 Feb 28; [Epub ahead of print]

La Morgia C, Achilli A, Iommarini L, Barboni P, Pala M, Olivieri A, Zanna C,

Vidoni S, Tonon C, Lodi R, Vetrugno R, Mostacci B, Liguori R, Carroccia R,

Montagna P, Rugolo M, Torroni A, Carelli V.

Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence

of myoclonus.

Neurology. 2008 Mar 4;70(10):762-70. Epub 2008 Jan 23.

Ghelli A, Porcelli AM, Zanna C, Martinuzzi A, Carelli V, Rugolo M.

Protection against oxidant-induced apoptosis by exogenous glutathione in Leber

hereditary optic neuropathy cybrids.

Invest Ophthalmol Vis Sci. 2008 Feb;49(2):671-6.

Zanna C, Ghelli A, Porcelli AM, Karbowski M, Youle RJ, Schimpf S, Wissinger B,

Pinti M, Cossarizza A, Vidoni S, Valentino ML, Rugolo M, Carelli V.

OPA1 mutations associated with dominant optic atrophy impair oxidative

phosphorylation and mitochondrial fusion.

Brain. 2008 Feb;131(Pt 2):352-67.

Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissière

A, Campos Y, Rivera H, de la Aleja JG, Carroccia R, Iommarini L, Labauge P,

Valerio Carelli, MD, PhD 8

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, Martín MA, Arenas J, Ayuso C, Garesse R, Lenaers G,

Bonneau D, Carelli V.

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus'


Brain. 2008 Feb;131(Pt 2):338-51. Epub 2007 Dec 24.

D'Aguanno S, Barassi A, Lupisella S, d'eril GM, Del Boccio P, Pieragostino D,

Pallotti F, Carelli V, Valentino ML, Liguori R, Avoni P, Bernardini S, Gambi D,

Urbani A, Federici G.

Differential cerebro spinal fluid proteome investigation of Leber hereditary

optic neuropathy (LHON) and multiple sclerosis.

J Neuroimmunol. 2008 Jan;193(1-2):156-60. Epub 2007 Dec 3.


Hudson G, Carelli V, Horvath R, Zeviani M, Smeets HJ, Chinnery PF.

X-Inactivation patterns in females harboring mtDNA mutations that cause Leber

hereditary optic neuropathy.

Mol Vis. 2007 Dec 21;13:2339-43.

Zeviani M, Carelli V.

Mitochondrial disorders.

Curr Opin Neurol. 2007 Oct;20(5):564-71.

Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, Pyle A, Elson J,

Howell N, La Morgia C, Valentino ML, Huoponen K, Savontaus ML, Nikoskelainen E,

Sadun AA, Salomao SR, Belfort R Jr, Griffiths P, Man PY, de Coo RF, Horvath R,

Zeviani M, Smeets HJ, Torroni A, Chinnery PF.

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial

DNA-haplogroup background.

Am J Hum Genet. 2007 Aug;81(2):228-33. Epub 2007 Jun 4.

Genasetti A, Valentino ML, Carelli V, Vigetti D, Viola M, Karousou EG, Melzi d'Eril

GV, De Luca G, Passi A, Pallotti F.

Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G-

>A/MT-ND1 with a real-time PCR quantitative approach.

J Mol Diagn. 2007 Sep;9(4):538-45. Epub 2007 Jul 25.

Valentino ML, Martí R, Tadesse S, López LC, Manes JL, Lyzak J, Hahn A, Carelli V,

Hirano M.

Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial

neurogastrointestinal encephalomyopathy (MNGIE).

FEBS Lett. 2007 Jul 24;581(18):3410-4. Epub 2007 Jun 27.

Valerio Carelli, MD, PhD 9

Baracca A, Sgarbi G, Mattiazzi M, Casalena G, Pagnotta E, Valentino ML, Moggio M,

Lenaz G, Carelli V, Solaini G.

Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at


Biochim Biophys Acta. 2007 Jul;1767(7):913-9. Epub 2007 May 18.

Gasparre G, Porcelli AM, Bonora E, Pennisi LF, Toller M, Iommarini L, Ghelli A,

Moretti M, Betts CM, Martinelli GN, Ceroni AR, Curcio F, Carelli V, Rugolo M, Tallini

G, Romeo G.

Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic

phenotype in thyroid tumors.

Proc Natl Acad Sci U S A. 2007 May 22;104(21):9001-6. Epub 2007 May 15.

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. Epub 2007 May 4.

Ventura DF, Gualtieri M, Oliveira AG, Costa MF, Quiros P, Sadun F, de Negri AM,

Salomao SR, Berezovsky A, Sherman J, Sadun AA, Carelli V.

Male prevalence of acquired color vision defects in asymptomatic carriers of Leber's

hereditary optic neuropathy.

Invest Ophthalmol Vis Sci. 2007 May;48(5):2362-70.

Carelli V, Franceschini F, Venturi S, Barboni P, Savini G, Barbieri G, Pirro E, La

Morgia C, Valentino ML, Zanardi F, Violante FS, Mattioli S.

Grand rounds: could occupational exposure to n-hexane and other solvents

precipitate visual failure in leber hereditary optic neuropathy?

Environ Health Perspect. 2007 Jan;115(1):113-5.


Sadun AA, Salomao SR, Berezovsky A, Sadun F, Denegri AM, Quiros PA, Chicani F,

Ventura D, Barboni P, Sherman J, Sutter E, Belfort R Jr, Carelli V.

Subclinical carriers and conversions in Leber hereditary optic neuropathy: a prospective

psychophysical study.

Trans Am Ophthalmol Soc. 2006;104:51-61.

Sanchez RN, Smith AJ, Carelli V, Sadun AA, Keltner JL.

Leber hereditary optic neuropathy possibly triggered by exposure to tire fire.

J Neuroophthalmol. 2006 Dec;26(4):268-72.

Barboni P, Savini G, Valentino ML, La Morgia C, Bellusci C, De Negri AM, Sadun F,

Carta A, Carbonelli M, Sadun AA, Carelli V.

Leber's Hereditary Optic Neuropathy with Childhood Onset.

Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5303-9.

Valerio Carelli, MD, PhD 10

Savini G, Zannini M, Carelli V, Sadun AA, Ross-Cisneros FN, Barboni P.

Optic nerve structure in healthy subjects.

Arch Ophthalmol. 2006 Oct;124(10):1507; author reply 1508-9.

Savini G, Bellusci C, Carbonelli M, Zanini M, Carelli V, Sadun AA, Barboni P.

Detection and quantification of retinal nerve fiber layer thickness in optic disc edema

using stratus OCT.

Arch Ophthalmol. 2006 Aug;124(8):1111-7.

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.

Cortopassi G, Danielson S, Alemi M, Zhan SS, Tong W, Carelli V, Martinuzzi A,

Marzuki S, Majamaa K, Wong A.

Mitochondrial disease activates transcripts of the unfolded protein response and cell cycle

and inhibits vesicular secretion and oligodendrocyte-specific transcripts.

Mitochondrion. 2006 Aug;6(4):161-75. Epub 2006 May 24.

Sadun AA, Carelli V.

The role of mitochondria in health, ageing, and diseases affecting vision.

Br J Ophthalmol. 2006 Jul;90(7):809-10.

Bonora E, Porcelli AM, Gasparre G, Biondi A, Ghelli A, Carelli V, Baracca A, Tallini

G, Martinuzzi A, Lenaz G, Rugolo M, Romeo G.

Defective oxidative phosphorylation in thyroid oncocytic carcinoma is associated with

pathogenic mitochondrial DNA mutations affecting complexes I and III.

Cancer Res. 2006 Jun 15;66(12):6087-96.

Beretta S, Ferrarese C, Wood JP, Osborne NN, Carelli V.

Pathogenesis of retinal ganglion cell death in Leber hereditary optic neuropathy (LHON):

possible involvement of mitochondria, light and glutamate.

Mitochondrion. 2006 Apr;6(2):102-3. Epub 2006 Apr 3.

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. Epub 2006 Jan 27.

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


Valerio Carelli, MD, PhD 11

Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial

DNA depletion in the small intestine.

Gastroenterology. 2006 Mar;130(3):893-901.

Sgarbi G, Baracca A, Lenaz G, Valentino LM, Carelli V, Solaini G.

Inefficient coupling between proton transport and ATP synthesis may be the pathogenic

mechanism for NARP/Leigh syndromes resulting from the 8993T>G mutation in


Biochem J. 2006 May 1;395(3):493-500.

Quiros PA, Torres RJ, Salomao S, Berezovsky A, Carelli V, Sherman J, Sadun F, de

Negri AM, Belfort R, Sadun AA.

Color vision defects in asymptomatic carriers of the Leber’s hereditary optic neuropathy

(LHON) mtDNA 11778 mutation from a giant Brazilian LHON pedigree: a case control


Br J Ophthalmol. 2006 Feb;90(2):150-153.


Perier C, Tieu K, Guegan C, Caspersen C, Jackson-Lewis V, Carelli V, Martinuzzi A,

Hirano M, Przedborski S, Vila M.

Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial

oxidative damage.

Proc Nat Acad Sci USA. 2005 Dec 27;52(102):19126-19131.

Ventura DF, Quiros P, Carelli V, Salomao RS, Gualtieri M, Oliveira AGF, Costa MF,

Berezovsky A, Sadun F, de Negri AM, Sadun AA.

Chromatic and luminance contrast sensitivities in asymptomatic carriers from a large

Brazilian pedigree of 11778 Leber hereditary optic neuropathy.

Invest Ophthalmol Vis Sci. 2005 Dec;46(12):4809-14.

Zanna C, Ghelli A, Porcelli AM, Martinuzzi A, Carelli V, Rugolo M.

Caspase-independent death of Leber’s hereditary optic neuropathy cybrids is driven by

energetic failure and mediated by AIF and Endonuclease G.

Apoptosis. 2005 Oct;10(5):997-1007.

Bose S, Dhillon N, Ross-Cisneros FN, Carelli V.

Relative post-mortem sparing of afferent pupil fibers in a patient with 3460 Leber's

hereditary optic neuropathy.

Graefes Arch Clin Exp Ophthalmol. 2005 Nov;243(11):1175-9. Epub 2005 Jul 8.

Carta A, Carelli V, D’Adda T, Ross-Cisneros FN, Sadun AA.

Human extraocular muscles in mitochondrial diseases: comparing chronic progressive

external ophthalmoplegia with Leber’s hereditary optic neuropathy.

Br J Ophthalmol. 2005 Jul;89(7):825-7.

Valerio Carelli, MD, PhD 12

Zeviani M, Carelli V.

Dominance in mitochondrial disorders.

J Inherit Metab Dis. 2005;28(3):287-299.

Danielson SR, Carelli V, Tan G, Martinuzzi A, Schapira AHV, Savontaus M-L,

Cortopassi G.

Isolation of transcriptomal changes attributable to LHON mutations and the cybridization


Brain 2005 May;128(Pt 5):1026-1037. Epub 2005 Feb 23.

Baracca A, Solaini G, Sgarbi G, Lenaz G, Baruzzi A, Schapira AHV, Martinuzzi A,

Carelli V.

Severe impairment of complex I-driven ATP synthesis in Leber’s hereditary optic

neuropathy cybrids.

Arch Neurol. 2005 May;62(5):730-6.

See editorial on the same issue.

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.

Savini G, Zanini M, Ross-Cisneros N, Sadun AA, Carelli V, Barboni P.

Correlation between retinal nerve fiber layer thickness and optic nerve head size: an

optical coherence tomography study.

Br J Ophthalmol. 2005 Apr;89(4):489-492.

Floreani M, Napoli E, Martinuzzi A, Pantano G, De Riva V, Trevisan R, Bisetto E,

Valente L, Carelli V, Dabbeni-Sala F.

Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber’s

hereditary optic neuropathy.

FEBS J. 2005 Feb;272(5):1124-1135.

Savini G, Barboni P, Valentino ML, Montagna P, Cortelli P, De Negri AM, Sadun F,

Bianchi S, Longanesi L, Zanini M, Carelli V.

Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected

carriers with Leber's hereditary optic neuropathy mutations.

Ophthalmology. 2005 Jan;112(1):127-131.

See editorial on the same issue.

Barboni P, Savini G, Valentino ML, Montagna P, Cortelli P, De Negri AM, Sadun F,

Bianchi S, Longanesi L, Zanini M, de Vivo A, Carelli V.

Valerio Carelli, MD, PhD 13

Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's

hereditary optic neuropathy.

Ophthalmology. 2005 Jan;112(1):120-126.

See editorial on the same issue.


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


Ann Neurol. 2004 Oct 25;56(5):719-723 [Epub ahead of print]

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


Ann Neurol. 2004 Oct 25;56(5):631-641 [Epub ahead of print]

Achilli A, Rengo C, Magri C, Battaglia V, Olivieri A, Scozzari R, Cruciani F, Zeviani M,

Briem E, Carelli V, Moral P, Dugoujon JM, Roostalu U, Loogvali EL, Kivisild T,

Bandelt HJ, Richards M, Villems R, Santachiara-Benerecetti AS, Semino O, Torroni A.

The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-

Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool.

Am J Hum Genet. 2004 Nov;75(5):910-918. Epub 2004 Sep 20.

Beretta S, Mattavelli L, Sala G, Tremolizzo L, Schapira AH, Martinuzzi A, Carelli V,

Ferrarese C.

Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in

cybrid cell lines.

Brain. 2004 Oct;127(Pt 10):2183-2192. Epub 2004 Sep 01.

Carelli V, Rugolo M, Sgarbi G, Ghelli A, Zanna C, Baracca A, Lenaz G, Napoli E,

Martinuzzi A, Solaini G.

Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a

model of mitochondrial neurodegeneration.

Biochim Biophys Acta. 2004 Jul 23;1658(1-2):172-179.

Lenaz G, Baracca A, Carelli V, D'Aurelio M, Sgarbi G, Solaini G.

Bioenergetics of mitochondrial diseases associated with mtDNA mutations.

Biochim Biophys Acta. 2004 Jul 23;1658(1-2):89-94.

Salomao SR, Berezovsky A, Andrade RE, Belfort R, Carelli V, Sadun AA.

Visual electrophysiologic findings in patients from an extensive Brazilian family with

Leber's hereditary optic neuropathy.

Doc Ophthalmol 2004 Mar;108(2):147-155.

Valerio Carelli, MD, PhD 14

Barboni P, Savini G, Plazzi G, Bellan M, Valentino ML, Zanini M, Montagna P, Hirano

M, Carelli V.

Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report.

Graefes Arch Clin Exp Ophthalmol. 2004 Oct;242(10):878-880. Epub 2004 Mar 24.

Sadun F, De Negri AM, Carelli V, Salomao SR, Berezovsky A, Andrade R, Moraes M,

Passos A, Belfort R, Bastos Da Rosa A, Quiros P, Sadun AA.

Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary

optic neuropathy.

Am J Ophthalmol. 2004 Feb;137(2):271-277.

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.

Mancuso M, Filosto M, Bellan M, Liguori R, Montagna P, Baruzzi A, DiMauro S,

Carelli V.

POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and


Neurology. 2004 Jan 27; 62(2): 316-318.


Zanna C, Ghelli A, Porcelli AM, Carelli V, Martinuzzi A, Rugolo M.

Apoptotic cell death of cybrid cells bearing Leber's hereditary optic neuropathy mutations

is caspase independent.

Ann NY Acad Sci. 2003 Dec;1010:213-217.

Zeviani M, Carelli V.

Mitochondrial disorders.

Curr Opin Neurol. 2003 Oct;16(5):585-594.

Sadun AA, Carelli V.

Mitochondrial function and dysfunction within the optic nerve.

Arch Ophthalmol. 2003 Sep;121(9):1342-1343.

Sadun AA, Carelli V, Salomao SR, Berezovsky A, Quiros PA, Sadun F, DeNegri AM,

Andrade R, Moraes M, Passos A, Kjaer P, Pereira J, Valentino ML, Schein S, Belfort R.

Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber

hereditary optic neuropathy.

Am J Ophthalmol. 2003 Aug;136(2):231-238.

Zeviani M, Spinazzola A, Carelli V.

Nuclear genes in mitochondrial disorders.

Curr Opin Genet Dev. 2003 Jun;13(3):262-270.

Valerio Carelli, MD, PhD 15

Carelli V, Giordano C, d'Amati G.

Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclearmitochondrial


Trends Genet. 2003 May;19(5):257-262.

Pegoraro E, Vettori A, Valentino ML, Molon A, Mostacciuolo ML, Howell N, Carelli V.

X-inactivation pattern in multiple tissues from two Leber's hereditary optic neuropathy

(LHON) patients.

Am J Med Genet. 2003 May 15;119A(1):37-40.

Ghelli A, Zanna C, Porcelli AM, Schapira AH, Martinuzzi A, Carelli V, Rugolo M.

Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrialdependent

apoptotic death in transmitochondrial cells incubated with galactose medium.

J Biol Chem. 2003 Feb 7;278(6):4145-4150.


Sadun AA, Carelli V, Salomao SR, Berezovsky A, Quiros P, Sadun F, DeNegri AM,

Andrade R, Schein S, Belfort R.

A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathy.

Trans Am Ophthalmol Soc. 2002;100:169-178; discussion 178-179.

Guy J, Qi X, Pallotti F, Schon EA, Manfredi G, Carelli V, Martinuzzi A, Hauswirth

WW, Lewin AS.

Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy.

Ann Neurol. 2002 Nov;52(5):534-542.

See editorial on the same issue.

Carelli V, Vergani L, Bernazzi B, Zampieron C, Bucchi L, Valentino M, Rengo C,

Torroni A, Martinuzzi A.

Respiratory function in cybrid cell lines carrying European mtDNA haplogroups:

implications for Leber's hereditary optic neuropathy.

Biochim Biophys Acta. 2002 Oct 9;1588(1):7-14.

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):774-778.

Sadun AA, Carelli V, Bose S, Ross-Cisneros FN, Barboni P, Ahrens ET.

First application of extremely high-resolution magnetic resonance imaging to study

microscopic features of normal and LHON human optic nerve.

Ophthalmology. 2002 Jun;109(6):1085-1091.

Valerio Carelli, MD, PhD 16

Lodi R, Carelli V, Cortelli P, Iotti S, Valentino ML, Barboni P, Pallotti F, Montagna P,

Barbiroli B.

Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical

expression of the G3460A mutation in Leber's hereditary optic neuropathy.

J Neurol Neurosurg Psychiatry. 2002 Jun;72(6):805-807.

Carelli V, Ross-Cisneros FN, Sadun AA.

Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic


Neurochem Int. 2002 May;40(6):573-584.

Carelli V, Baracca A, Barogi S, Pallotti F, Valentino ML, Montagna P, Zeviani M, Pini

A, Lenaz G, Baruzzi A, Solaini.

Biochemical-clinical correlation in patients with different loads of the mitochondrial

DNA T8993G mutation.

Arch Neurol. 2002 Feb;59(2):264-270.

Danielson SR, Wong A, Carelli V, Martinuzzi A, Schapira AH, Cortopassi GA.

Cells bearing mutations causing Leber's hereditary optic neuropathy are sensitized to Fas-

Induced apoptosis.

J Biol Chem. 2002 Feb 22;277(8):5810-5815.


Carelli V, Valentino ML, Liguori R, Meletti S, Vetrugno R, Provini F, Mancardi GL,

Bandini F, Baruzzi A, Montagna P.

Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: report of two cases.

J Neurol Neurosurg Psychiatry. 2001 Dec;71(6):813-816.

Carelli V, Sadun AA.

Optic neuropathy in Lhon and Leigh syndrome.

Ophthalmology. 2001 Jul;108(7):1172-1173.


Sadun AA, Win PH, Ross-Cisneros FN, Walker SO, Carelli V.

Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve.

Trans Am Ophthalmol Soc. 2000;98:223-232; discussion 232-235.

Lodi R, Montagna P, Cortelli P, Iotti S, Cevoli S, Carelli V, Barbiroli B.

'Secondary' 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy

mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative

metabolism when associated with the 11778/ND4 mitochondrial DNA mutation.

Brain. 2000 Sep;123 ( Pt 9):1896-1902.

Cerullo A, Marini C, Cevoli S, Carelli V, Montagna P, Tinuper P.

Valerio Carelli, MD, PhD 17

Colpocephaly in two siblings: further evidence of a genetic transmission.

Dev Med Child Neurol. 2000 Apr;42(4):280-282.

Avoni P, Monari L, Carelli V, Carcangiu R, Barboni P, Donati C, Badiali L, Baruzzi A,

Montagna P.

Congenital encephalomyopathy with epilepsy, chorioretinitis, basal ganglia involvement,

and muscle minicores.

Ann Neurol. 2000 Mar;47(3):395-399.

Baracca A, Barogi S, Carelli V, Lenaz G, Solaini G.

Catalytic activities of mitochondrial ATP synthase in patients with mitochondrial DNA

T8993G mutation in the ATPase 6 gene encoding subunit a.

J Biol Chem. 2000 Feb 11;275(6):4177-4182.


Barbiroli B, Iotti S, Cortelli P, Martinelli P, Lodi R, Carelli V, Montagna P.

Low brain intracellular free magnesium in mitochondrial cytopathies.

J Cereb Blood Flow Metab. 1999 May;19(5):528-532.

Carelli V, Ghelli A, Bucchi L, Montagna P, De Negri A, Leuzzi V, Carducci C, Lenaz G,

Lugaresi E, Degli Esposti M.

Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with

Leber's hereditary optic neuropathy.

Ann Neurol. 1999 Mar;45(3):320-328.


Carelli V, Barboni P, Zacchini A, Mancini R, Monari L, Cevoli S, Liguori R, Sensi M,

Lugaresi E, Montagna P.

Leber's Hereditary Optic Neuropathy (LHON) with 14484/ND6 mutation in a North

African patient.

J Neurol Sci. 1998 Oct 8;160(2):183-188.

Pezzi PP, De Negri AM, Sadun F, Carelli V, Leuzzi V.

Childhood Leber's hereditary optic neuropathy (ND1/3460) with visual recovery.

Pediatr Neurol. 1998 Oct;19(4):308-312.

Rizzi R, Carelli V, Monari L, Mochi M, Liguori R, Sensi M, Cocozza S, Filla A,

Montagna P.

Cerebellar ataxia, hypogonadism and chorioretinopathy: molecular analysis of an Italian


Ital J Neurol Sci. 1998 Feb;19(1):41-44.


Valerio Carelli, MD, PhD 18

Lodi R, Rinaldi R, Gaddi A, Iotti S, D'Alessandro R, Scoz N, Battino M, Carelli V,

Azzimondi G, Zaniol P, Barbiroli B.

Brain and skeletal muscle bioenergetic failure in familial hypobetalipoproteinaemia.

J Neurol Neurosurg Psychiatry. 1997 Jun;62(6):574-580.

Carelli V, Ghelli A, Ratta M, Bacchilega E, Sangiorgi S, Mancini R, Leuzzi V, Cortelli

P, Montagna P, Lugaresi E, Degli Esposti M.

Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1

mutations and correlation with the mitochondrial genotype.

Neurology. 1997 Jun;48(6):1623-1632.

Parmeggiani A, Lehesjoki AE, Carelli V, Posar A, Santi A, Santucci M, Gobbi G, Pini

A, Rossi PG.

Familial Unverricht-Lundborg disease: a clinical, neurophysiologic, and genetic study.

Epilepsia. 1997 Jun;38(6):637-641.

Torroni A, Petrozzi M, D'Urbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, Leuzzi

V, Carelli V, Barboni P, De Negri A, Scozzari R.

Haplotype and phylogenetic analyses suggest that one European-specific mtDNA

background plays a role in the expression of Leber hereditary optic neuropathy by

increasing the penetrance of the primary mutations 11778 and 14484.

Am J Hum Genet. 1997 May;60(5):1107-1121.

Cortelli P, Montagna P, Pierangeli G, Lodi R, Barboni P, Liguori R, Carelli V, Iotti S,

Zaniol P, Lugaresi E, Barbiroli B.

Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's

hereditary optic neuropathy: a clinical and 31P-MRS study.

J Neurol Sci. 1997 May 1;148(1):25-31.

Ghelli A, Degli Esposti M, Carelli V, Lenaz G.

Changes in mitochondrial complex I activity and coenzyme Q binding site in Leber's

hereditary optic neuropathy (LHON).

Mol Aspects Med. 1997;18 Suppl:S263-267.


Torroni A, Carelli V, Petrozzi M, Terracina M, Barboni P, Malpassi P, Wallace DC,

Scozzari R.

Detection of the mtDNA 14484 mutation on an African-specific haplotype: implications

about its role in causing Leber hereditary optic neuropathy.

Am J Hum Genet. 1996 Jul;59(1):248-252.

Esposti MD, Ngo A, Ghelli A, Benelli B, Carelli V, McLennan H, Linnane AW.

The interaction of Q analogs, particularly hydroxydecyl benzoquinone (idebenone), with

the respiratory complexes of heart mitochondria.

Arch Biochem Biophys. 1996 Jun 15;330(2):395-400.

Valerio Carelli, MD, PhD 19

Pegoraro E, Carelli V, Zeviani M, Cortelli P, Montagna P, Barboni P, Angelini C,

Hoffman EP.

X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not

support a strong X-linked determinant.

Am J Med Genet. 1996 Feb 2;61(4):356-362.


Vergani L, Martinuzzi A, Carelli V, Cortelli P, Montagna P, Schievano G, Carrozzo R,

Angelini C, Lugaresi E.

MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on

cytoplasmic hybrid (cybrid) cells.

Biochem Biophys Res Commun. 1995 May 25;210(3):880-888.

Montagna P, Plazzi G, Cortelli P, Carelli V, Lugaresi E, Barboni P, Fiocchi M.

Abnormal lactate after effort in healthy carriers of Leber's hereditary optic neuropathy.

J Neurol Neurosurg Psychiatry. 1995 May;58(5):640-641.

Cortelli P, Zacchini A, Barboni P, Malpassi P, Carelli V, Montagna P.

Lack of association between mitochondrial tRNA(Leu(UUR)) point mutation and cluster


Lancet. 1995 Apr 29;345(8957):1120-1121.


Degli Esposti M, Carelli V, Ghelli A, Ratta M, Crimi M, Sangiorgi S, Montagna P,

Lenaz G, Lugaresi E, Cortelli P.

Functional alterations of the mitochondrially encoded ND4 subunit associated with

Leber's hereditary optic neuropathy.

FEBS Lett. 1994 Oct 3;352(3):375-379.

Carelli V, Liguori R, Cordivari C, Bianchedi G, Montagna P.

Ceftriaxone is ineffective in ALS.

Ital J Neurol Sci. 1994 Feb;15(1):66.


Mochi M, Sangiorgi S, Cortelli P, Carelli V, Scapoli C, Crisci M, Monari L, Pierangeli

G, Montagna P.

Testing models for genetic determination in migraine.

Cephalalgia. 1993 Dec;13(6):389-394.

Book chapters

Valerio Carelli, MD, PhD 20

Pierangeli G, Mochi M, Sangiorgi S, Cortelli P, Carelli V, Scapoli C, Crisci M, Parchi P,

Monari L, Montagna P.

Genetics of migraine with and without aura.

In "New advances in headache research" 3, ED. F Clifford Rose, Smith-Gordon


Valentino ML, Monari L, Mochi M, Cevoli S, Carelli V, Soriani S, Morandi C,

Pulimeno R, Cortelli P, Montagna P.

Searching for CACNL1A4 mutations in migraine patients.

In “Frontiers in headache research. Vol. 8. -Genetics of headache disorders”- ED. J

Olesen and M-G Bousser, Lippincott Williams & Wilkins 2000;147-150.

V. Carelli.

Leber’s hereditary optic neuropathy.

In “Mitochondrial disorders in Neurology” 2 Edition, Blue Book Series in Neurology,

ED. AHV Schapira and S Di Mauro, Butterworth Heinemann, 2002;115-142.

Zeviani M, Carelli V.

Mitochondrial DNA and OXPHOS disorders.

In “Oxidative phosphorylation in health and disease” ED. J Smeitink, F Trijbels and R

Sengers, Landes Bioscience, 2004.

Carelli V, Barboni P, Sadun AA.

Mitochondrial ophthalmology.

In “Mitochondrial medicine” ED. S DiMauro, M Hirano, E Schon, 2006.