M. Hirano
发表
I. Nishino,
A. Spinazzola,
M. Hirano,
1999,
Science.
S. Dimauro,
M. Sano,
W. S. Millar,
2006,
Neurology.
I. Nonaka,
I. Nishino,
K. von Figura,
2005,
Journal of neuropathology and experimental neurology.
M. Hirano,
2004
.
S. Dimauro,
H. Akman,
M. Hirano,
2014,
Muscle & nerve.
S. Dimauro,
M. Hirano,
2009,
Cell.
G. Pita,
J. Clarimón,
A. Bigot,
2016,
EMBO molecular medicine.
H. Aburatani,
H. Takano,
T. Arai,
2000,
Proceedings of the National Academy of Sciences of the United States of America.
A. Gigante,
R. Silverstein,
T. McIntyre,
2014,
Circulation research.
V. Mootha,
S. Pearce,
C. Powell,
2020,
medRxiv.
M. Hirano,
A. Karaa,
Johnston Grier,
2018,
Neurology: Genetics.
Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damage.
M. Vila,
A. Martinuzzi,
C. Guégan,
2005,
Proceedings of the National Academy of Sciences of the United States of America.
S. Sanna-Cherchi,
M. Hirano,
C. Garone,
2017,
Journal of child neurology.
M. Zeviani,
A. Rötig,
R. Horvath,
2009,
Biochimica et biophysica acta.
M. Hirano,
2003,
Current neurology and neuroscience reports.
M. Hirano,
2003
.
F. Lammert,
W. Reith,
S. Zeuzem,
2009,
Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society.
S. Dimauro,
M. Hirano,
2009,
Advances in experimental medicine and biology.
M. Hirano,
2008
.
S. Dimauro,
M. Hirano,
C. Quinzii,
2007,
Mitochondrion.
C. Minetti,
A. Hays,
E. Raps,
1992,
Neurology.
Donna M. Martin,
J. Rosenfeld,
J. Lupski,
2016,
American journal of human genetics.
H. Colecraft,
E. Barca,
J. Morrow,
2017,
PloS one.
H. Colecraft,
E. Barca,
J. Morrow,
2016,
PloS one.
Robert W. Taylor,
P. Chinnery,
Hanns Lochmüller,
2014,
Journal of Neurology.
Robert W. Taylor,
P. Chinnery,
H. Lochmüller,
2014
.
M. Madesh,
K. Drosatos,
H. Colecraft,
2017,
JCI insight.
M. Hirano,
L. García-Corzo,
C. Quinzii,
2014,
Molecular Syndromology.
A. Marsland,
C. Trumpff,
K. Engelstad,
2022,
Journal of molecular medicine.
I. Desguerre,
T. Arimura,
H. Worman,
2004,
Muscle & nerve.
Robert W. Taylor,
S. Dimauro,
S. Marie,
2009,
Brain : a journal of neurology.
G. Hadjigeorgiou,
A. Papadimitriou,
M. Hirano,
1999,
Neurology.
G. Hadjigeorgiou,
A. Papadimitriou,
M. Hirano,
1999,
Neurology.
S. Dimauro,
M. Mancuso,
D. Thorburn,
2005,
Annals of neurology.
D. Mojon,
P. Kaufmann,
M. Hirano,
1997,
Neurology.
S. Dimauro,
E. Schon,
L. Rowland,
1997,
Neuromuscular Disorders.
T. Nagatsu,
M. Hirano,
S. Sakakibara,
1977,
Clinica chimica acta; international journal of clinical chemistry.
A. Hays,
E. Raps,
M. Hirano,
1994,
Neurology.
Anna S. Monzel,
M. Levine,
S. Horvath,
2022,
bioRxiv.
V. Emmanuele,
M. Hirano,
C. Garone,
2013,
FASEB journal : official publication of the Federation of American Societies for Experimental Biology.
M. Hirano,
J. Chae,
E. Bonilla,
2007,
Pediatric Research.
H. Mitsumoto,
M. Hirano,
D. Re,
2014,
Amyotrophic lateral sclerosis & frontotemporal degeneration.
H. Mitsumoto,
L. Rowland,
A. Hays,
2011,
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.
S. Dimauro,
M. Hirano,
C. Quinzii,
2007,
The Journal of clinical investigation.
S. Dimauro,
M. Hirano,
A. Naini,
2008,
BioFactors.
A. Singleton,
J. Hardy,
M. Bitner-Glindzicz,
2009,
American journal of human genetics.
S. Rahman,
C. Clarke,
M. Hirano,
2012,
Neuromuscular Disorders.
M. Hirano,
C. Garone,
C. Quinzii,
2012,
Biochimica et biophysica acta.
S. Dimauro,
M. Schuelke,
S. Rahman,
2010,
PloS one.
V. Emmanuele,
M. Hirano,
I. Barcelos,
2019,
Current opinion in neurology.
N. Drouot,
S. Dimauro,
F. Plewniak,
2008,
American journal of human genetics.
S. Dimauro,
M. Hirano,
C. Quinzii,
2014,
The New England journal of medicine.
S. Dimauro,
V. Emmanuele,
M. Hirano,
2012,
Archives of neurology.
S. Dimauro,
M. Mancuso,
J. Ahlskog,
2006
.
V. Emmanuele,
M. Hirano,
C. Quinzii,
2021,
Mitochondrial Diseases.
V. Emmanuele,
M. Hirano,
C. Quinzii,
2018,
Essays in biochemistry.
S. Dimauro,
I. Nonaka,
I. Nishino,
2000,
Nature.
I. Nonaka,
I. Nishino,
Kiyoharu Inoue,
2003,
Neuromuscular Disorders.
S. Dimauro,
I. Nonaka,
I. Nishino,
2002,
Neurology.
S. Dimauro,
R. Rodenburg,
M. Schuelke,
2006,
American journal of human genetics.
S. Dimauro,
R. Carrozzo,
M. Koenig,
2010,
FASEB journal : official publication of the Federation of American Societies for Experimental Biology.
S. Dimauro,
M. Mancuso,
M. Filosto,
2003,
Archives of neurology.
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.
S. Dimauro,
P. Navas,
E. Trevisson,
2007,
Human molecular genetics.
S. Dimauro,
E. Schon,
E. Trevisson,
2008,
Human molecular genetics.
F. Villarroya,
S. Kalko,
E. Ruiz-Pesini,
2020,
Scientific Reports.
S. Dimauro,
M. Hirano,
C. Quinzii,
2006,
Journal of the Neurological Sciences.
V. Mootha,
S. Dimauro,
H. Akman,
2005,
Neurology.
S. Dimauro,
M. Hirano,
A. Naini,
2003,
BioFactors.
S. Dimauro,
M. Hirano,
2006,
Archives of neurology.
S. Dimauro,
M. Hirano,
2005,
Archives of neurology.
S. Dimauro,
M. Mancuso,
P. Kaufmann,
2005,
Archives of neurology.
S. Dimauro,
A. Hays,
M. Hirano,
2012,
Archives of neurology.
S. Dimauro,
R. Haller,
H. Akman,
2010,
Neuromuscular Disorders.
I. Nonaka,
Y. Hayashi,
I. Nishino,
2009,
Muscle & nerve.
A. Meseguer,
E. García-Arumí,
J. Villarroya,
2011,
Biochemical and biophysical research communications.
A. Meseguer,
J. Villarroya,
M. Hirano,
2009,
Experimental cell research.
V. Carelli,
A. Hahn,
M. Valentino,
2007,
FEBS letters.
M. Hirano,
C. Quinzii,
2011,
BioFactors.
D. Egli,
M. Sauer,
R. Goland,
2012,
Nature.
E. Schon,
J. Frank,
R. Grassucci,
2018,
iScience.
H. Akman,
M. Hirano,
B. Dorado,
2011,
Human molecular genetics.
D. Mojon,
J. Flammer,
A. Mermoud,
2001,
Graefe's Archive for Clinical and Experimental Ophthalmology.
T. Siddique,
M. Hirano,
M. Gaudette,
2000,
Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases.
T. Nagatsu,
M. Hirano,
S. Sakakibara,
1978,
Clinica chimica acta; international journal of clinical chemistry.
W. Vargas,
V. Emmanuele,
M. Hirano,
2019,
Journal of Neurology.
R. Finkel,
K. Bushby,
J. Jaiswal,
2020,
Annals of neurology.
Anna S. Monzel,
M. Levine,
E. Epel,
2022,
bioRxiv.
M. Zeviani,
C. Viscomi,
M. Hirano,
2018,
Human gene therapy.
M. Zeviani,
C. Viscomi,
M. Hirano,
2017
.
J. Goldman,
M. Hirano,
S. Geier,
1986,
The Journal of neuroscience : the official journal of the Society for Neuroscience.
S. Dimauro,
M. Hirano,
A. Naini,
2013
.
M. Hirano,
C. Quinzii,
2010,
Developmental disabilities research reviews.
S. Dimauro,
M. Hirano,
C. Quinzii,
2006,
Neurochemical Research.
P. Navas,
G. Basso,
E. Trevisson,
2016,
Human molecular genetics.
R. Bedlack,
J. Morgenlander,
M. Hirano,
2004,
Muscle & nerve.
Miguel Ángel Martín,
C. Paradas,
M. Madruga-Garrido,
2021,
Orphanet Journal of Rare Diseases.
A. Meseguer,
E. García-Arumí,
J. Villarroya,
2008,
Journal of the Neurological Sciences.
I. Nonaka,
Y. Hayashi,
I. Nishino,
2009,
Neuromuscular Disorders.
K. Engelstad,
M. Hirano,
C. Domínguez-González,
2022,
Journal of neuromuscular diseases.
S. Dimauro,
M. Hirano,
S. DiMauro,
1998,
Current opinion in cardiology.
Robert W. Taylor,
S. Dimauro,
D. Turnbull,
2006
.
M. Hirano,
S. Levsky,
Raphael J. Rosen,
2022,
Kidney International Reports.
V. Emmanuele,
M. Hirano,
C. Quinzii,
2014,
Molecular Syndromology.
M. Hirano,
A. Naini,
C. Quinzii,
2012,
PloS one.
M. Hirano,
C. Quinzii,
2010
.
S. Dimauro,
L. Salberg,
R. Lovelace,
1994,
Neurology.
S. Homma,
F. Sera,
V. Emmanuele,
2018,
Human molecular genetics.
W. Dunn,
E. Schwartz,
M. Campanella,
2010,
Arteriosclerosis, thrombosis, and vascular biology.
S. Dimauro,
D. Shungu,
K. Engelstad,
2022,
Annals of clinical and translational neurology.
M. Hirano,
2008
.
S. Dimauro,
C. Angelini,
H. Mitsumoto,
2008,
Archives of neurology.
T. Terao,
N. Kanayama,
M. Hirano,
1995,
Thrombosis research.
S. Dimauro,
M. Schuelke,
L. Salviati,
2008,
FASEB journal : official publication of the Federation of American Societies for Experimental Biology.
J. Barquinero,
M. Hirano,
R. Martí,
2014,
Gene Therapy.
S. Dimauro,
R. Kardon,
M. Mancuso,
2008,
Archives of neurology.
S. Dimauro,
John L.P. Thompson,
D. Egli,
2016,
Human reproduction.
D. Weeks,
S. Dimauro,
L. Salberg,
1998,
American journal of human genetics.
M. Hirano,
2006,
Current neurology and neuroscience reports.
S. Dimauro,
C. Angelini,
G. Basso,
2005,
Neurology.
S. Dimauro,
M. Sano,
X. Mao,
2004,
Neurology.
S. Dimauro,
H. Varma,
P. Faust,
2016,
European journal of medical genetics.
M. Hirano,
2010,
Current neurology and neuroscience reports.
E. Barca,
M. Hirano,
C. Quinzii,
2016
.
V. Pertegato,
S. Dimauro,
P. Navas,
2012,
Journal of Medical Genetics.
Marni J. Falk,
W. Chung,
H. Hakonarson,
2018,
Human molecular genetics.
M. Hirano,
C. López-Gómez,
R. Martí,
2022,
Neuromuscular Disorders.
J. Lupski,
K. Szigeti,
K. Eldin,
2004,
Journal of Medical Genetics.
M. Hirano,
Y. Nishigaki,
R. Martí,
2004,
The neurologist.
P. Chinnery,
J. Enríquez,
V. Carelli,
2021,
Nature reviews. Genetics.
M. Hirano,
J. Chae,
Ki Joong Kim,
2008,
Brain and Development.
M. Hirano,
2014,
Brain : a journal of neurology.
S. Dimauro,
E. Schon,
F. Santorelli,
2002,
Biochemical and biophysical research communications.
J. Ganesh,
S. Dimauro,
K. Flanigan,
2008,
Neuromuscular Disorders.
H. Mandel,
S. Krähenbühl,
A. Gratwohl,
2011,
Bone Marrow Transplantation.
H. Smeets,
R. Rodenburg,
P. Bonnen,
2022,
The Journal of clinical investigation.
S. Lope-Piedrafita,
F. Mingozzi,
M. Hirano,
2020,
EBioMedicine.
F. Mingozzi,
M. Hirano,
R. Martí,
2019,
Human Gene Therapy.
M. Hirano,
R. Martí,
Shufang Li,
2019,
Diagnosis and Management of Mitochondrial Disorders.
J. Barquinero,
A. Andreu,
N. de Luna,
2016,
Human gene therapy.
H. Mandel,
P. Chinnery,
A. Gratwohl,
2015,
Brain : a journal of neurology.
M. Zeviani,
J. Barquinero,
C. Viscomi,
2014,
Molecular therapy : the journal of the American Society of Gene Therapy.
M. Hirano,
R. Martí,
L. C. López,
2012,
Methods in molecular biology.
J. Barquinero,
A. Andreu,
H. Eixarch,
2011,
Gene Therapy.
I. Nishino,
D. Shungu,
Á. García-Cazorla,
2009,
Human molecular genetics.
P. Reichard,
M. Valentino,
V. Bianchi,
2006,
Journal of Biological Chemistry.
A. V. van Kuilenburg,
A. Buchman,
J. Verschuuren,
2005,
Annals of neurology.
Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays.
I. Nishino,
A. Spinazzola,
M. Hirano,
2004,
Clinical chemistry.
M. Hirano,
Y. Nishigaki,
R. Martí,
2003,
Biochemical and biophysical research communications.
S. Dimauro,
D. D. De Vivo,
M. Hirano,
2006,
American journal of human genetics.
S. Dimauro,
M. Hirano,
G. Davidzon,
2006,
Brain : a journal of neurology.
S. Dimauro,
M. Mancuso,
A. Marina,
2002
.
A. Hirano,
M. Hirano,
2004,
Neuropathology : official journal of the Japanese Society of Neuropathology.
P. Navas,
R. Artuch,
L. Salviati,
2009,
Advances in experimental medicine and biology.
M. Picard,
M. Hirano,
2016,
JAMA neurology.
S. Homma,
V. Emmanuele,
H. Akman,
2015,
Human molecular genetics.
K. Wilhelmsen,
S. Barral,
L. Rowland,
2008,
American journal of human genetics.
D. Egli,
M. Sauer,
V. Emmanuele,
2016,
Cell stem cell.
S. Dimauro,
D. Turnbull,
M. Zeviani,
2016,
Nature Reviews Disease Primers.
M. Hirano,
J. Odel,
N. Lincoff,
1993,
JAMA.
S. Dimauro,
G. Cortopassi,
F. Taroni,
2007,
Free radical biology & medicine.
M. Hirano,
B. Dorado,
R. Martí,
2012,
Methods in molecular biology.
R. Carrozzo,
F. Santorelli,
J. Arenas,
2006,
Genomics.
Marni J. Falk,
S. Dimauro,
M. Tarnopolsky,
2014,
Genetics in Medicine.
S. Dimauro,
M. Hirano,
Salvatore DiMauro,
2001,
Neurology.
S. Dimauro,
E. Schon,
M. Hirano,
2006,
Muscle & nerve.
D. Mojon,
M. Hirano,
J. Odel,
1996
.
S. Pavlakis,
M. Hirano,
1994,
Journal of child neurology.
S. Dimauro,
E. Schon,
A. Martinuzzi,
1992,
Annals of neurology.
I. Nishino,
A. Spinazzola,
M. Hirano,
2004,
Nucleosides, nucleotides & nucleic acids.
M. Hirano,
Y. Nishigaki,
M. R. Vilá,
2003,
Clinical chemistry and laboratory medicine.
I. Nishino,
J. A. Oliver,
A. Andreu,
2002,
Mitochondrion.
I. Nishino,
M. Hirano,
Y. Nishigaki,
2001,
Seminars in cell & developmental biology.
M. Hirano,
T. Vu,
2000,
Brain pathology.
S. Dimauro,
I. Nonaka,
I. Nishino,
2000,
Annals of neurology.
J. Arenas,
Miguel Ángel Martín,
E. Rivas,
2019,
Orphanet Journal of Rare Diseases.
Robert W. Taylor,
S. Dimauro,
P. Chinnery,
2018,
Journal of Medical Genetics.
V. Emmanuele,
H. Akman,
M. Hirano,
2014,
EMBO molecular medicine.
M. Hirano,
E. González-Vioque,
R. Martí,
2014,
Human molecular genetics.
S. Dimauro,
M. Mancuso,
A. Marina,
2002,
Annals of neurology.
Salvatore DiMauro,
Michio Hirano,
S. Dimauro,
2010,
Current neurology and neuroscience reports.
S. Dimauro,
H. Prokisch,
K. Gempel,
2007,
Brain : a journal of neurology.
G. Gao,
H. Akman,
M. Hirano,
2021,
Annals of neurology.
G. Gao,
H. Akman,
M. Hirano,
2020,
bioRxiv.
W. Dauer,
Á. García-Cazorla,
H. Akman,
2008,
Human molecular genetics.
M. Hirano,
Y. Nishigaki,
M. R. Vilá,
2004
.
S. Dimauro,
M. Mancuso,
A. Marina,
2002,
Neurology.
S. Kalko,
K. Engelstad,
C. Paradas,
2019,
Annals of neurology.
G. Plazzi,
G. Savini,
P. Barboni,
2004,
Graefe's Archive for Clinical and Experimental Ophthalmology.
I. Nishino,
A. Spinazzola,
M. Hirano,
2001,
Neuromuscular Disorders.
I. Nishino,
J. A. Oliver,
A. Andreu,
2002,
The Journal of Biological Chemistry.
I. Nishino,
A. Spinazzola,
M. Hirano,
2001
.
M. Hirano,
W. Copeland,
Y. Nishigaki,
2003,
The Journal of clinical investigation.
A. Andreu,
L. Guarner,
J. Gámez,
2002,
Neurology.
F. Villarroya,
S. Kalko,
E. Ruiz-Pesini,
2020,
Scientific Reports.
Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiency
E. Konofagou,
M. Juanola-Falgarona,
H. Akman,
2019,
EBioMedicine.
E. Barca,
M. Juanola-Falgarona,
M. Hirano,
2017,
Annals of neurology.
K. Engelstad,
E. Barca,
V. Emmanuele,
2020,
Journal of inherited metabolic disease.
Owen S. Skinner,
V. Mootha,
E. Schon,
2017,
Human molecular genetics.
Robert W. Taylor,
G. Elgar,
D. Thorburn,
2016,
PLoS genetics.
M. Hirano,
C. Garone,
S. Tadesse,
2011,
Brain : a journal of neurology.
S. Dimauro,
C. Casali,
M. Cairo,
2006,
Neurology.
S. Dimauro,
E. Rivas,
C. Paradas,
2013,
Neurology.
V. Mootha,
S. Dimauro,
S. Calvo,
2012,
Archives of neurology.
S. Dimauro,
A. Marina,
A. Meseguer,
2003,
Neurology.
S. Dimauro,
E. Schon,
C. Moraes,
1994
.
A. Paetau,
A. Rissanen,
L. Kluijtmans,
2011,
The Lancet Neurology.
G. Enns,
F. Scaglia,
E. Pomfret,
2020,
Molecular genetics and metabolism.
Beatriz Dorado,
Francesc Villarroya,
Michio Hirano,
2011,
PloS one.
E. Barca,
M. Hirano,
C. Garone,
2014,
Brain : a journal of neurology.
R. De Giorgio,
V. Carelli,
A. Cossarizza,
2010
.
M. Valentino,
M. Hirano,
R. Martí,
2007,
Bioscience reports.
Y. Anikster,
B. Weiss,
A. Andreu,
2006,
Neurology.
M. Valentino,
C. Lagier-Tourenne,
M. Hirano,
2005,
Gene.
M. Zeviani,
H. Prokisch,
M. Mancuso,
2017,
Neuromuscular Disorders.
S. Dimauro,
M. Hirano,
2005,
Neuromuscular Disorders.
S. Dimauro,
C. Sue,
D. Vivo,
1999,
Seminars in perinatology.
D. Louis,
M. Maccollin,
M. Hirano,
2001,
Journal of the American Academy of Dermatology.
P. Kaplan,
S. Dimauro,
E. Schon,
1999,
Nature Genetics.
P. Kaplan,
S. Dimauro,
L. Papadopoulou,
2000,
Annals of neurology.
V. Mootha,
E. Schon,
A. Terzic,
2016,
The EMBO journal.
S. Dimauro,
C. Berlin,
J. Vockley,
2003,
Neuromuscular Disorders.
R. Schiffmann,
P. Kang,
D. Bali,
2023,
Molecular genetics and metabolism.
S. Dimauro,
E. Schon,
V. Carelli,
2013,
Nature Reviews Neurology.
Jacqueline A Palace,
S. Banka,
E. Zanoteli,
2019,
Brain : a journal of neurology.
S. Dimauro,
E. Schon,
M. Hirano,
2012,
Nature Reviews Genetics.
S. Dimauro,
E. Schon,
M. Hirano,
1998,
Biochimica et biophysica acta.
S. Dimauro,
M. Hirano,
P. Greene,
2010,
Muscle & nerve.
F. Chédin,
Wencheng Li,
B. Tian,
2020,
Autophagy.
S. Dimauro,
E. Schon,
M. Hirano,
2000,
Neurological Sciences.
Anna S. Monzel,
M. Levine,
Saeed Tavazoie,
2023,
Communications Biology.
F. Mingozzi,
M. Hirano,
R. Martí,
2019,
Human gene therapy.
Anna S. Monzel,
D. Belsky,
M. Levine,
2021,
bioRxiv.
Owen S. Skinner,
V. Mootha,
C. Clish,
2021,
The Journal of clinical investigation.
S. Horvath,
S. Hägg,
M. Picard,
2019,
bioRxiv.
S. Dimauro,
M. Sano,
X. Mao,
2011,
Neurology.
S. Dimauro,
M. Sano,
Ying Wei,
2009,
Archives of neurology.
M. Dalakas,
N. Latov,
T. Brannagan,
2005
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Nicola Pavese,
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