E. Bertini
发表
Ching H. Wang,
R. Finkel,
E. Bertini,
2007,
Journal of child neurology.
E. Bertini,
K. Pelin,
M. Lek,
2014,
Neuromuscular Disorders.
E. Bertini,
E. Mercuri,
G. Neri,
2005,
European Journal of Human Genetics.
E. Bertini,
M. Pane,
E. Mercuri,
2010,
Journal of Medical Genetics.
E. Bertini,
H. Lue,
W. Antonin,
2019,
The Cerebellum.
Raphael Schiffmann,
Enrico Bertini,
Odile Boespflug-Tanguy,
2004,
European Journal of Human Genetics.
E. Bertini,
D. Diodato,
D. Martinelli,
2015,
Orphanet Journal of Rare Diseases.
C. Ponting,
D. Bonthron,
E. Bertini,
2006,
Nature Genetics.
E. Bertini,
R. Gatti,
G. Vaula,
2012,
neurogenetics.
E. Bertini,
M. Rocchi,
T. Meitinger,
1998,
American journal of human genetics.
E. Bertini,
C. Pignata,
A. Capuano,
2019,
Clinical genetics.
R. Finkel,
E. Bertini,
S. Peltz,
2017,
The Lancet.
E. Bertini,
R. Carrozzo,
D. Martinelli,
2014,
Clinica chimica acta; international journal of clinical chemistry.
E. Bertini,
R. Carrozzo,
G. Siciliano,
2002,
Journal of Neurology.
E. Bertini,
C. Wallgren‐Pettersson,
J. Mandel,
1997,
Human molecular genetics.
E. Bertini,
D. Lev,
B. Pode-Shakked,
2020,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
E. Bertini,
A. Vanderver,
D. Rowitch,
2014,
Annals of neurology.
E. Bertini,
G. Vasco,
M. Petrarca,
2020,
Journal of Neuroscience Methods.
E. Bertini,
T. Strom,
M. Zeviani,
2012,
Brain : a journal of neurology.
E. Bertini,
C. Brahe,
1996,
Journal of Molecular Medicine.
Carol J. Saunders,
R. Pfundt,
E. Bertini,
2016,
American journal of human genetics.
S. Gabriel,
M. Daly,
D. MacArthur,
2014,
The Journal of clinical investigation.
E. Bertini,
C. Compagnucci,
A. Masotti,
2015,
Oncotarget.
C. Bosman,
E. Bertini,
C. Piantadosi,
1997,
Annals of neurology.
E. Bertini,
B. Dallapiccola,
A. Novelli,
2020,
American journal of medical genetics. Part A.
Vladimir G. Gainullin,
E. Bertini,
A. Vanderver,
2020,
Annals of clinical and translational neurology.
E. Bertini,
A. Capuano,
P. Curatolo,
2018,
Brain and Development.
E. Bertini,
A. Montpetit,
R. Carrozzo,
2013,
Brain : a journal of neurology.
E. Bertini,
V. Petruzzella,
G. De Michele,
2009,
Biochimica et biophysica acta.
C. Bosman,
R. Boldrini,
E. Bertini,
2001,
Neurology.
E. Bertini,
C. Vaurs-Barrière,
O. Boespflug-Tanguy,
2012,
Annals of neurology.
E. Bertini,
G. Vasco,
S. Gazzellini,
2016
.
Enrico Bertini,
E. Bertini,
C. Compagnucci,
2016,
Oncotarget.
E. Bertini,
C. Compagnucci,
S. Petrini,
2016,
Human molecular genetics.
E. Bertini,
R. Carrozzo,
G. Federici,
2003,
Journal of Biological Chemistry.
E. Bertini,
A. Durr,
P. Billuart,
2005,
Neurology.
E. Bertini,
C. Passarelli,
A. Pastore,
2011,
Neuroscience.
E. Bertini,
B. Bernardi,
G. Colafati,
2013,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
E. Bertini,
R. Carrozzo,
S. Petrillo,
2014,
International journal of molecular sciences.
E. Bertini,
M. Elmaleh,
A. Pichiecchio,
2016,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
E. Bertini,
P. Striano,
F. Zara,
2006,
Epilepsia.
E. Bertini,
L. Vallée,
F. Zara,
2003,
Neurology.
E. Bertini,
S. Schurmans,
H. Kayserili,
2009,
Nature Genetics.
Marika Pane,
Claudio Bruno,
Gessica Vasco,
2010,
Neuromuscular Disorders.
E. Bertini,
E. Mazzone,
V. Ricotti,
2021,
PloS one.
E. Bertini,
M. Main,
V. Ricotti,
2019,
Neuromuscular Disorders.
G. Comi,
E. Bertini,
E. Mazzone,
2019,
PloS one.
G. Comi,
E. Bertini,
M. Sormani,
2016,
PloS one.
E. Bertini,
E. Mazzone,
V. Ricotti,
2016,
PloS one.
G. Comi,
E. Bertini,
M. Sormani,
2014,
PloS one.
G. Comi,
E. Bertini,
E. Hoffman,
2012,
Neurology.
E. Bertini,
M. Pane,
E. Mercuri,
2015,
Journal of Neurology.
Robert W. Taylor,
E. Bertini,
R. Carrozzo,
2016,
Journal of Inherited Metabolic Disease.
E. Bertini,
R. Carrozzo,
F. Santorelli,
2009
.
E. Bertini,
R. Carrozzo,
F. Santorelli,
2009,
Biochemical and biophysical research communications.
E. Bertini,
C. Garel,
R. Touraine,
2012,
Orphanet Journal of Rare Diseases.
E. Bertini,
E. Schaftingen,
G. Matthijs,
1998,
American journal of human genetics.
C. Bosman,
R. Boldrini,
E. Bertini,
1989,
Epilepsia.
Glutathione metabolism and antioxidant enzymes in patients affected by nonalcoholic steatohepatitis.
E. Bertini,
V. Nobili,
A. Pastore,
2005,
Clinica chimica acta; international journal of clinical chemistry.
E. Bertini,
M. Salvetti,
M. Frontali,
2018,
Clinical Neurology and Neurosurgery.
Marni J. Falk,
Ryan L. Davis,
E. Bertini,
2019,
Journal of Medical Genetics.
E. Bertini,
R. Carrozzo,
S. Petrini,
2012,
Redox report : communications in free radical research.
E. Bertini,
S. Petrini,
C. Passarelli,
2011
.
E. Bertini,
M. Tarnopolsky,
C. Catsman-Berrevoets,
2015,
Annals of clinical and translational neurology.
Enrico Bertini,
Filippo Maria Santorelli,
R. Boldrini,
2011,
Biochemical and biophysical research communications.
E. Bertini,
E. Valente,
G. Zanni,
2014,
Epilepsy Research.
E. Bertini,
B. Bernardina,
A. Sferra,
2012,
Neurogenetics.
E. Bertini,
A. Bentivoglio,
A. D’Amico,
2015,
Journal of the Neurological Sciences.
E. Bertini,
F. Muntoni,
Haiyan Zhou,
2006,
Human molecular genetics.
E. Bertini,
B. Dallapiccola,
A. Novelli,
2020,
Frontiers in Pediatrics.
E. Bertini,
L. Morandi,
M. Capulli,
2011,
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
E. Bertini,
F. Santorelli,
F. Zonta,
2018,
Neurobiology of Disease.
E. Bertini,
C. Marras,
G. Vasco,
2019,
Parkinsonism & related disorders.
E. Bertini,
M. Pane,
E. Mercuri,
2009,
Human mutation.
E. Bertini,
G. Vasco,
S. Petrillo,
2020,
Redox biology.
E. Bertini,
H. Houlden,
2014,
Neurology.
E. Bertini,
B. Dallapiccola,
A. Ferlini,
2013,
neurogenetics.
E. Bertini,
E. Mercuri,
F. Santorelli,
2012,
Annals of neurology.
E. Bertini,
A. D’Amico,
C. Angelini,
2012,
European Journal of Human Genetics.
E. Bertini,
S. Pro,
A. Capuano,
2019,
Parkinsonism & related disorders.
E. Bertini,
B. Nilius,
G. Gillessen‐kaesbach,
2011,
American journal of medical genetics. Part A.
E. Bertini,
G. Federici,
A. Pastore,
2003,
Clinica chimica acta; international journal of clinical chemistry.
E. Bertini,
I. Yavuz,
F. Fattori,
2012,
BMJ Case Reports.
E. Bertini,
G. Comi,
R. Caldara,
2007,
Neurology.
T. Sanger,
E. Bertini,
M. Koenig,
2008,
Clinical genetics.
E. Bertini,
G. Vasco,
G. Tasca,
2018,
The Cerebellum.
E. Bertini,
M. Pagani,
R. Cutrera,
2005,
American journal of physical medicine & rehabilitation.
G. Comi,
E. Bertini,
E. Hoffman,
2020,
Annals of clinical and translational neurology.
Arturo E. Hernandez,
B. Carlin,
E. Bertini,
2021,
Orphanet Journal of Rare Diseases.
E. Bertini,
A. D’Amico,
N. Romero,
2014,
Muscle & nerve.
E. Bertini,
C. Passarelli,
A. Pastore,
2010,
International journal of molecular medicine.
E. Bertini,
P. Striano,
F. Zara,
2006,
Biochemical and biophysical research communications.
E. Bertini,
A. Vanderver,
Q. Waisfisz,
2017,
Neurology.
E. Bertini,
G. Vasco,
C. Stutterd,
2021,
Neurology: Genetics.
E. Bertini,
G. Vasco,
C. Stutterd,
2021,
Neurology. Genetics.
E. Bertini,
A. D’Amico,
F. Cecconi,
2016,
Cell Death and Differentiation.
F. Camassei,
A. Jenkner,
A. Donfrancesco,
2000,
Medical and pediatric oncology.
R. Boldrini,
E. Bertini,
R. Carrozzo,
2012,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
E. Bertini,
D. Tavian,
S. Missaglia,
2017,
Orphanet Journal of Rare Diseases.
E. Bertini,
M. Cilio,
Bing Zhou,
2001
.
E. Bertini,
G. Cestra,
S. Petrini,
2020,
International journal of molecular sciences.
E. Bertini,
A. Di Biase,
M. Cappa,
1994,
Journal of neurology, neurosurgery, and psychiatry.
E. Bertini,
S. Petrini,
A. Alisi,
2016,
Experimental and molecular pathology.
E. Bertini,
A. Musarò,
A. D’Amico,
2015,
EBioMedicine.
E. Bertini,
A. D’Amico,
C. Angelini,
2017
.
E. Bertini,
A. D’Amico,
C. Angelini,
2017,
Journal of Neurology.
E. Bertini,
G. Vasco,
F. Bianco,
2012,
The Journal of pediatrics.
E. Bertini,
S. Petrini,
P. Sabatelli,
2001,
Proceedings of the National Academy of Sciences of the United States of America.
E. Bertini,
A. D’Amico,
S. Petrini,
2011,
Seminars in pediatric neurology.
E. Bertini,
F. Santorelli,
A. Simonati,
2006,
Journal of neuroscience research.
E. Bertini,
M. Digilio,
A. Giannotti,
2003,
The Journal of pediatrics.
E. Bertini,
L. Mannucci,
G. Federici,
2003,
Analytical biochemistry.
E. Bertini,
C. Castiglioni,
A. Terracciano,
2013,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
E. Bertini,
S. Petrillo,
G. Silvestri,
2021,
Frontiers in Neuroscience.
E. Bertini,
R. Carrozzo,
G. Enns,
2013,
Molecular genetics and metabolism.
E. Bertini,
S. Petrillo,
M. Cappa,
2013,
Molecular genetics and metabolism.
E. Bertini,
P. Ciampalini,
C. Passarelli,
2012,
Pediatric diabetes.
E. Bertini,
G. Zanni,
2011,
Orphanet journal of rare diseases.
M. Hallett,
E. Bertini,
K. Gwinn‐Hardy,
2007,
Neurology.
E. Bertini,
S. Servidei,
L. Ptáček,
1996,
American journal of human genetics.
R. Boldrini,
E. Bertini,
S. Petrini,
2008,
Journal of gastroenterology and hepatology.
E. Bertini,
R. Carrozzo,
Cecilia Okuma,
2015,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
E. Bertini,
E. Valente,
F. Santorelli,
2003,
Neurology.
E. Bertini,
F. Santorelli,
J. Chelly,
2000,
American journal of medical genetics.
E. Bertini,
M. Baulac,
C. Fallet-Bianco,
2010,
Brain : a journal of neurology.
E. Bertini,
A. D’Amico,
F. Musumeci,
2016,
Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.
Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and Patients
E. Bertini,
E. Mercuri,
A. Yuryev,
2021,
Frontiers in Physiology.
G. Comi,
E. Bertini,
A. D’Amico,
2015,
Neurology.
E. Bertini,
S. Petrini,
V. Bonetto,
2008,
Journal of Muscle Research and Cell Motility.
E. Bertini,
S. Petrini,
C. Poggesi,
2009,
Cytoskeleton.
E. Bertini,
A. Vanderver,
D. Timmann,
2019,
Neurology. Genetics.
E. Bertini,
A. Vanderver,
M. Elmaleh,
2017,
Brain : a journal of neurology.
E. Bertini,
A. Musarò,
A. D’Amico,
2017,
Human molecular genetics.
E. Bertini,
C. Angelini,
A. Solari,
2003,
Journal of child neurology.
E. Bertini,
C. Angelini,
C. Minetti,
2004,
Muscle & nerve.
E. Bertini,
B. Giusti,
K. Bushby,
2002,
Neuromuscular Disorders.
E. Bertini,
D. Pham‐Dinh,
R. Surtees,
2001,
American journal of human genetics.
E. Bertini,
N. Maraldi,
C. Capanni,
2001,
Matrix biology : journal of the International Society for Matrix Biology.
E. Bertini,
F. Santorelli,
G. Ghiggeri,
2007,
Journal of the American Society of Nephrology : JASN.
E. Bertini,
G. Federici,
C. Casali,
2002,
Archives of disease in childhood.
E. Bertini,
A. D’Amico,
A. Amodeo,
2019,
International journal of cardiology.
A. Battaglia,
E. Bertini,
G. Neri,
1997,
Neurology.
E. Bertini,
R. Hennekam,
H. Kayserili,
2007,
American journal of human genetics.
E. Bertini,
C. Marras,
F. Zara,
2013,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
E. Bertini,
K. Bushby,
A. D’Amico,
2010,
Neuromuscular Disorders.
G. Comi,
E. Bertini,
M. Emdin,
2019,
Annals of Internal Medicine.
E. Bertini,
M. Pane,
E. Mercuri,
2014,
Neurology.
S. Dimauro,
E. Bertini,
R. Pagon,
1990,
Pediatric Research.
E. Bertini,
M. Karayiorgou,
S. Lalani,
2019,
American journal of human genetics.
E. Bertini,
C. Dionisi-Vici,
S. Cascioli,
2012,
American journal of medical genetics. Part A.
Ching H. Wang,
E. Bertini,
F. Muntoni,
2014,
Neuromuscular Disorders.
E. Bertini,
A. D’Amico,
2009
.
E. Bertini,
P. Tonali,
E. Ricci,
1993,
Neurology.
E. Bertini,
R. Carrozzo,
A. D’Amico,
2015,
European Journal of Human Genetics.
E. Bertini,
R. Carrozzo,
F. Santorelli,
2011,
neurogenetics.
E. Bertini,
R. Carrozzo,
F. Santorelli,
2011,
Journal of bioenergetics and biomembranes.
E. Bertini,
S. Ferdinandusse,
H. Waterham,
2012,
JIMD reports.
E. Bertini,
F. Drago,
D. Martinelli,
2021,
Biomolecules.
E. Bertini,
M. Pane,
E. Mercuri,
2020,
European journal of neurology.
Laurie D. Smith,
E. Bertini,
M. Schuelke,
2021,
European Journal of Human Genetics.
E. Bertini,
G. Vasco,
E. Valente,
2021,
The Cerebellum.
Robert W. Taylor,
M. Minczuk,
E. Bertini,
2014,
American journal of human genetics.
E. Bertini,
A. Bruselles,
M. Tartaglia,
2018,
Human molecular genetics.
Robert W. Taylor,
E. Bertini,
T. Meitinger,
2017
.
Robert W. Taylor,
E. Bertini,
T. Meitinger,
2014,
American journal of human genetics.
E. Bertini,
A. D’Amico,
C. Bruno,
2019,
Neuromuscular Disorders.
N. Bresolin,
G. Comi,
S. Corti,
2016,
Journal of Molecular Neuroscience.
E. Bertini,
F. Muntoni,
L. de Meirleir,
2008,
Annals of neurology.
E. Bertini,
A. Oliviero,
Massimiliano Valeriani,
1997,
Brain : a journal of neurology.
E. Bertini,
A. D’Amico,
E. Ricci,
2015,
Neuromuscular Disorders.
R. Finkel,
E. Bertini,
E. Mercuri,
2015,
Neuromuscular Disorders.
E. Bertini,
M. Tosetti,
G. Cioni,
2009,
Human mutation.
E. Bertini,
M. Pane,
E. Mercuri,
2010,
European Journal of Human Genetics.
E. Bertini,
F. Brancati,
E. Valente,
2002,
Annals of neurology.
E. Bertini,
R. Carrozzo,
H. Prokisch,
2022,
American journal of human genetics.
E. Bertini,
R. Schiffmann,
A. Hénaut,
2012,
PloS one.
E. Bertini,
S. Ricci,
F. Vigevano,
1994,
Neuropediatrics.
E. Bertini,
P. Striano,
R. Guerrini,
2018,
Epilepsia.
E. Bertini,
F. Taroni,
B. Garavaglia,
1996,
The Journal of pediatrics.
E. Bertini,
P. Tonali,
E. Ricci,
1994,
Acta Neuropathologica.
E. Bertini,
O. Boespflug-Tanguy,
K. Yamanaka,
2005
.
E. Bertini,
C. Compagnucci,
F. Vigevano,
2016,
Epilepsia.
E. Bertini,
F. Alkuraya,
C. de Bruin,
2022,
European journal of endocrinology.
E. Bertini,
P. Billuart,
G. Neri,
2011,
Human mutation.
E. Bertini,
M. Tosetti,
A. Durr,
2006,
Neurogenetics.
E. Bertini,
A. Oliveira,
Wladimir Bocca Vieira de Rezende Pinto,
2020,
European journal of neurology.
E. Bertini,
F. Santorelli,
O. Boespflug-Tanguy,
2002,
American journal of human genetics.
R. Finkel,
E. Bertini,
M. Main,
2020,
Neurology.
E. Bertini,
T. Huisman,
K. Zerres,
2013,
The Cerebellum.
G. Comi,
E. Bertini,
M. Pane,
2017,
Neuromuscular Disorders.
E. Bertini,
W. Halliday,
J. Tolmie,
2008,
American journal of medical genetics. Part A.
E. Bertini,
M. Koenig,
H. Kayserili,
2005,
Annals of neurology.
E. Bertini,
B. Schlotter-Weigel,
E. Malfatti,
2020,
Neurology.
E. Bertini,
P. Tonali,
E. Ricci,
1993,
Journal of the Neurological Sciences.
E. Bertini,
C. Brahe,
S. Zappata,
1995,
American journal of medical genetics.
R. Finkel,
E. Bertini,
M. Pane,
2021,
Annals of clinical and translational neurology.
R. Finkel,
E. Bertini,
M. Pane,
2021,
Neuromuscular Disorders.
R. Finkel,
E. Bertini,
E. Mazzone,
2020,
Annals of neurology.
E. Bertini,
M. Pane,
E. Mercuri,
2012,
BMC Medical Genetics.
E. Bertini,
A. Pisani,
N. Mercuri,
2020,
Movement disorders : official journal of the Movement Disorder Society.
E. Bertini,
P. Hogarth,
N. Nardocci,
2008,
Neurology.
E. Bertini,
G. Vasco,
A. D’Amico,
2018,
neurogenetics.
E. Bertini,
S. Petrillo,
C. Dionisi-Vici,
2012,
Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals.
E. Bertini,
F. Brancati,
E. Valente,
2006,
Annals of neurology.
E. Bertini,
R. Borgatti,
R. Hennekam,
2012,
Orphanet Journal of Rare Diseases.
E. Bertini,
E. Mercuri,
E. Valente,
2013,
Orphanet Journal of Rare Diseases.
E. Bertini,
B. Bernardi,
E. Valente,
2013,
neurogenetics.
C. Bosman,
R. Boldrini,
E. Bertini,
2001,
Neurology.
E. Bertini,
R. Carrozzo,
F. Santorelli,
2012,
neurogenetics.
E. Bertini,
S. Petrillo,
F. Vigevano,
2021,
Antioxidants.
E. Bertini,
Hui Jiang,
E. Arbustini,
2016,
The Journal of clinical investigation.
E. Bertini,
A. Palamara,
M. Raponi,
2021,
Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi.
E. Bertini,
M. Main,
E. Mercuri,
2004,
Neuromuscular Disorders.
E. Bertini,
R. Schiffmann,
T. Frebourg,
2006,
Annals of human genetics.
E. Bertini,
R. Carrozzo,
A. D’Amico,
2019,
Human mutation.
E. Bertini,
A. D’Amico,
C. Bruno,
2016,
Neuromuscular Disorders.
E. Bertini,
L. Viollet,
B. Estournet,
2015,
Journal of neuromuscular diseases.
S. Dimauro,
E. Bertini,
A. D’Amico,
2008,
Biochemical and biophysical research communications.
R. Finkel,
E. Bertini,
M. Schroth,
2017,
Neuromuscular Disorders.
R. Finkel,
E. Bertini,
C. Palermo,
2019,
Neuromuscular Disorders.
E. Bertini,
R. Cutrera,
A. Petrone,
2007,
American journal of physical medicine & rehabilitation.
E. Bertini,
C. Dionisi-Vici,
V. Leuzzi,
2000,
Neurology.
E. Bertini,
S. Pro,
M. Tartaglia,
2017,
Brain : a journal of neurology.
R. Finkel,
E. Bertini,
M. Pane,
2020,
Neuromuscular Disorders.
E. Bertini,
M. Pane,
E. Mercuri,
2019,
Annals of neurology.
E. Bertini,
C. Palermo,
M. Pane,
2018,
Neurology.
E. Bertini,
C. Palermo,
M. Pane,
2018,
Neuromuscular Disorders.
R. Finkel,
E. Bertini,
M. Main,
2015,
Neuromuscular Disorders.
E. Bertini,
S. Petrillo,
F. Piemonte,
2019,
International journal of molecular sciences.
W. Chung,
R. Finkel,
E. Bertini,
2017,
Neuromuscular Disorders.
E. Bertini,
C. Compagnucci,
M. Tartaglia,
2020,
Oxidative medicine and cellular longevity.
E. Bertini,
A. Bizzi,
A. D’Amico,
2012,
Neuromuscular Disorders.
E. Bertini,
E. Mercuri,
2018,
Nature Reviews Neurology.
E. Bertini,
G. Uziel,
M. Cappa,
1994
.
E. Bertini,
E. Eyal,
M. Scavina,
2017,
Clinical genetics.
E. Bertini,
G. Vasco,
M. Petrarca,
2018,
European journal of neurology.
A. Ziegler,
E. Bertini,
R. Borgatti,
2016,
European Journal of Human Genetics.
E. Bertini,
R. Carrozzo,
E. Lamantea,
2016,
Journal of Neurology.
E. Bertini,
G. Zanni,
A. Sferra,
2022,
Brain sciences.
E. Bertini,
A. D’Amico,
M. Schuelke,
2004,
Human Genetics.
E. Bertini,
B. Giusti,
R. Carrozzo,
2005,
Molecular and Cellular Neuroscience.
E. Bertini,
R. Carrozzo,
A. Tessa,
2003,
Molecular and Cellular Neuroscience.
E. Bertini,
G. Cioni,
R. Battini,
2021,
Brain and Development.
E. Bertini,
R. Carrozzo,
P. Barboni,
2015,
Brain : a journal of neurology.
E. Bertini,
G. Uziel,
M. Rimoldi,
1998,
The Italian Journal of Neurological Sciences.
E. Bertini,
E. Mercuri,
S. Iannaccone,
2012,
The Lancet Neurology.
E. Bertini,
T. Lehner,
G. Penchaszadeh,
2015
.
E. Bertini,
L. Selim,
F. Hassan,
2013
.
E. Bertini,
C. Palermo,
M. Pane,
2021,
Annals of clinical and translational neurology.
E. Bertini,
F. Zacchello,
C. Bachmann,
1991,
The Journal of pediatrics.
E. Bertini,
R. Carrozzo,
A. D’Amico,
2014,
Molecular genetics and metabolism.
E. Bertini,
R. Borgatti,
P. Striano,
2021,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
E. Bertini,
F. Brancati,
E. Valente,
2010,
Human mutation.
S. Klauck,
E. Bertini,
S. Haas,
2015,
Human mutation.
E. Bertini,
V. Petruzzella,
R. Carrozzo,
2013,
Journal of Inherited Metabolic Disease.
Susan C. Brown,
E. Bertini,
E. Mercuri,
2000,
Neuromuscular Disorders.
E. Bertini,
E. Mercuri,
A. Ferlini,
2010,
BMC Medical Genetics.
E. Bertini,
F. Vigevano,
L. Fusco,
1992,
Brain and Development.
E. Bertini,
M. Pane,
E. Mercuri,
2013,
Neuromuscular Disorders.
E. Bertini,
P. Rinaldo,
F. Zacchello,
1991,
The Lancet.
E. Bertini,
R. Carrozzo,
M. Zeviani,
2018,
Journal of Human Genetics.
E. Bertini,
R. Carrozzo,
Domenico de Rasmo,
2018,
Human molecular genetics.
E. Bertini,
R. Carrozzo,
Domenico de Rasmo,
2018,
Human molecular genetics.
E. Bertini,
S. Rahman,
2019,
Diagnosis and Management of Mitochondrial Disorders.
E. Bertini,
F. Callea,
E. Bellacchio,
2016,
Leukemia & lymphoma.
E. Bertini,
F. Iodice,
M. Salzano,
2005,
Paediatric anaesthesia.
E. Bertini,
A. Sferra,
F. Nicita,
2020,
International journal of molecular sciences.
R. Boldrini,
E. Bertini,
A. D’Amico,
2007,
Journal of pediatric surgery.
John H Livingston,
Roberta Battini,
Ivana Olivieri,
2012,
Nature Genetics.
Jonathan C. Fuller,
D. Bonthron,
E. Bertini,
2009,
Nature Genetics.
A. Green,
D. Bonthron,
E. Bertini,
2007,
American journal of human genetics.
E. Bertini,
L. Montecchi-Palazzi,
V. Kalscheuer,
2012,
Proceedings of the National Academy of Sciences.
E. Bertini,
E. Ricci,
S. Servidei,
1992,
The Journal of pediatrics.
E. Bertini,
M. Zeviani,
C. Dionisi-Vici,
2003
.
Robert W. Taylor,
A. Ballabio,
E. Bertini,
2020,
Journal of inherited metabolic disease.
E. Bertini,
C. Dionisi-Vici,
M. Hachem,
2010
.
E. Bertini,
C. Dionisi-Vici,
M. Hachem,
2008
.
E. Bertini,
G. Federici,
C. Dionisi-Vici,
2000,
Journal of Inherited Metabolic Disease.
E. Bertini,
F. Brancati,
E. Valente,
2009,
American journal of medical genetics. Part A.
E. Bertini,
P. Tonali,
A. Federico,
1998,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
E. Bertini,
C. Tifft,
A. D’Amico,
2011,
Biochimica et biophysica acta.
E. Bertini,
I. Gut,
M. Bayés,
2012,
American journal of human genetics.
E. Bertini,
F. Muntoni,
H. Brunner,
2006,
Human mutation.
Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings
E. Bertini,
E. Bertini,
P. Tonali,
2004,
Acta Neuropathologica.
E. Bertini,
M. Manfredi,
L. Calandriello,
1992,
The Italian journal of neurological sciences (Testo stampato).
G. Comi,
E. Bertini,
M. Pane,
2017,
Italian Journal of Pediatrics.
E. Bertini,
C. Ottenheijm,
M. Salvetti,
2020,
Neuromuscular Disorders.
E. Bertini,
L. Selim,
F. Hassan,
2012
.
D. Cacchiarelli,
E. Bertini,
I. Bozzoni,
2011,
EMBO molecular medicine.
E. Bertini,
D. Cooper,
R. Guerrini,
2013,
Orphanet Journal of Rare Diseases.
E. Bertini,
A. D’Amico,
2013,
Handbook of clinical neurology.
Robert W. Taylor,
E. Haan,
Pedro Rebelo-Guiomar,
2018,
bioRxiv.
E. Bertini,
A. D’Amico,
M. Tartaglia,
2014,
Journal of Neurology.
E. Bertini,
R. Vandenberghe,
L. Schöls,
2021,
Frontiers in Neurology.
E. Bertini,
R. Carrozzo,
S. Lucioli,
2005
.
E. Bertini,
R. Carrozzo,
N. Petit,
2003,
Human mutation.
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy
E. Bertini,
A. Boninsegna,
G. Neri,
2004,
European Journal of Human Genetics.
E. Bertini,
A. Vanderver,
R. Carrozzo,
2016,
Brain : a journal of neurology.
E. Bertini,
E. Mazzone,
M. Pane,
2016,
Neuromuscular Disorders.
E. Bertini,
E. Mercuri,
F. Muntoni,
2017,
Journal of Neurology, Neurosurgery, and Psychiatry.
D. MacArthur,
M. Hurles,
A. Hoischen,
2013,
American journal of human genetics.
E. Bertini,
A. D’Amico,
E. Valente,
2011,
Neuromuscular Disorders.
Ching H. Wang,
E. Bertini,
M. Schroth,
2012,
Journal of child neurology.
Susan C. Brown,
E. Bertini,
M. Swash,
2007,
Brain : a journal of neurology.
E. Bertini,
B. Porfirio,
C. Minetti,
2004
.
E. Bertini,
F. Muntoni,
R. Bryson-Richardson,
2013,
American journal of human genetics.
E. Bertini,
M. Klein,
G. Pontrelli,
2012,
Molecular genetics and metabolism.
S. Gabriel,
M. Daly,
D. MacArthur,
2015,
The Journal of clinical investigation.
C. Bosman,
R. Boldrini,
E. Bertini,
1988,
Clinical neuropathology.
E. Bertini,
M. Ryten,
M. Tartaglia,
2017,
Brain : a journal of neurology.
E. Bertini,
R. Carrozzo,
M. Zeviani,
2017,
Biochimica et biophysica acta. Molecular basis of disease.
E. Bertini,
G. Uziel,
M. Rimoldi,
1991,
Developmental neuroscience.
E. Bertini,
A. D’Amico,
C. Bruno,
2018,
Neurological Sciences.
J. Rosenfeld,
L. Vissers,
H. Peeters,
2021,
Genome medicine.
E. Bertini,
F. Piemonte,
P. La Rosa,
2020,
International journal of molecular sciences.
Euan A Ashley,
Enrico Bertini,
Matthew B Klein,
2019,
PloS one.
R. Boldrini,
E. Bertini,
A. D’Amico,
2015,
Neuromuscular Disorders.
E. Bertini,
M. Di Stazio,
E. Bellacchio,
2014,
Oral health and dental management.
E. Bertini,
N. Nardocci,
F. Santorelli,
2013,
Orphanet Journal of Rare Diseases.
E. Bertini,
A. Tessa,
A. Simonati,
2000,
Human mutation.
R. Boldrini,
E. Bertini,
R. Carrozzo,
2009,
Human mutation.
E. Bertini,
C. Compagnucci,
M. Tartaglia,
2020,
International journal of molecular sciences.
E. Bertini,
F. Brancati,
E. Valente,
2009,
Human mutation.
R. Boldrini,
E. Bertini,
F. Vigevano,
1988,
American journal of medical genetics.
E. Bertini,
V. Tiranti,
R. Carrozzo,
2019,
The Journal of clinical investigation.
E. Bertini,
O. Boespflug-Tanguy,
D. Cleveland,
2003,
Proceedings of the National Academy of Sciences of the United States of America.
E. Bertini,
F. Santorelli,
P. Denora,
2013,
Handbook of clinical neurology.
E. Bertini,
V. Petruzzella,
F. Santorelli,
2004,
Neurochemical Research.
E. Bertini,
C. Compagnucci,
A. Masotti,
2014,
Aging.
I. Scheffer,
E. Bertini,
R. Guerrini,
2009,
Neurology.
E. Bertini,
R. Carrozzo,
A. Torraco,
2021,
Genes.
E. Bertini,
C. Compagnucci,
M. Tartaglia,
2021,
Disease Models & Mechanisms.
E. Bertini,
C. Compagnucci,
M. Tartaglia,
2020,
Antioxidants.
E. Bertini,
C. Compagnucci,
M. Tartaglia,
2020
.
S. Salani,
F. Rizzo,
N. Bresolin,
2017,
Scientific Reports.
G. Comi,
S. Corti,
E. Bertini,
2012,
Journal of Medical Genetics.
G. Comi,
E. Bertini,
M. Sormani,
2014,
PloS one.
E. Bertini,
A. Capuano,
P. Curatolo,
2019,
Front. Genet..
T. Wienker,
E. Bertini,
A. Pfeufer,
2001,
Nature Genetics.
E. Bertini,
M. Pane,
E. Mercuri,
2009,
Human mutation.
E. Bertini,
A. Capuano,
G. Zanni,
2020,
International journal of molecular sciences.
E. Bertini,
I. Bozzoni,
V. Ricotti,
2012,
Molecular therapy : the journal of the American Society of Gene Therapy.
E. Bertini,
C. Compagnucci,
2017,
International journal of molecular sciences.
E. Bertini,
G. Uziel,
S. Regis,
2008,
Clinical genetics.
E. Bertini,
C. Willoughby,
M. Callea,
2020,
Journal of Pediatric Neurology.
E. Bertini,
G. Pepe,
2002,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
J. Opitz,
E. Bertini,
M. Genuardi,
1987,
American journal of medical genetics.
P. D. Rose,
E. Bertini,
A. Aloysius,
2008,
Neuromuscular Disorders.
E. Bertini,
M. Zeviani,
P. Tonali,
1991,
Neurology.
E. Bertini,
R. Carrozzo,
A. D’Amico,
2011
.
E. Bertini,
C. Bönnemann,
2010
.
Federico Zara,
Enrico Bertini,
Massimiliano Cecconi,
2003,
Epileptic disorders : international epilepsy journal with videotape.
E. Bertini,
B. Giusti,
R. Abbate,
1999,
Neuromuscular Disorders.
E. Bertini,
R. Carrozzo,
M. Tartaglia,
2017,
Clinical genetics.
E. Bertini,
D. Cooper,
M. Mort,
2011,
Orphanet journal of rare diseases.
E. Bertini,
D. Cooper,
M. Mort,
2011
.
E. Bertini,
R. Schiffmann,
D. Rodriguez,
2006,
Neurogenetics.
E. Bertini,
F. Bianco,
E. Mercuri,
2012,
Neuromuscular Disorders.
N. Bresolin,
G. Comi,
S. Corti,
2020,
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.
E. Bertini,
G. Sabetta,
L. Spagnoli,
1986,
Journal of Neurology.
E. Bertini,
A. Athanasiadis,
F. Locatelli,
2014,
PloS one.
E. Bertini,
B. Giusti,
R. Carrozzo,
2007,
Neuromuscular Disorders.
Claudio Bruno,
Vincenzo Giglio,
Enrico Bertini,
2007,
FASEB journal : official publication of the Federation of American Societies for Experimental Biology.
E. Bertini,
G. Vasco,
C. Catsman-Berrevoets,
2019,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
E. Bertini,
E. Boltshauser,
G. Zanni,
2018,
Handbook of clinical neurology.
E. Bertini,
A. Bruselles,
M. Tartaglia,
2017,
Gene.
E. Bertini,
A. Bruselles,
M. Tartaglia,
2017,
Clinical genetics.
E. Bertini,
R. Borgatti,
T. Mazza,
2014,
Human Genetics.
E. Bertini,
M. Pane,
E. Mercuri,
2020,
Frontiers in Genetics.
E. Bertini,
M. Simpson,
H. Goebel,
2012,
Nature Genetics.
B. Tseng,
Ching H. Wang,
E. Bertini,
2010,
Journal of child neurology.
E. Bertini,
S. Petrillo,
M. Fiorenza,
2020,
Biomolecules.
E. Bertini,
A. Mégarbané,
A. Federico,
2003,
Neurology.
C. Scapoli,
E. Bertini,
M. Pane,
2020,
Frontiers in Genetics.
Madeline A. Lancaster,
E. Bertini,
M. Lancaster,
2006,
Nature Genetics.
E. Bertini,
A. Ferlini,
N. Maraldi,
2011,
Oxidative medicine and cellular longevity.
E. Bertini,
A. Vanderver,
N. Brunetti‐Pierri,
2019,
Annals of clinical and translational neurology.
E. Bertini,
F. Santorelli,
R. Battini,
2020,
Journal of Pediatric Neurology.
E. Bertini,
G. Vasco,
A. D’Amico,
2019,
Neuromuscular Disorders.
Francesco Muntoni,
Marika Pane,
Roberta Battini,
2015,
Neuromuscular Disorders.
G. Comi,
E. Bertini,
M. Sormani,
2013,
PloS one.
E. Bertini,
G. Zanni,
2018,
Handbook of clinical neurology.
E. Bertini,
R. Borgatti,
E. Valente,
2018,
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
E. Bertini,
M. Digilio,
B. Dallapiccola,
2020,
BMC Pediatrics.
E. Bertini,
F. Brancati,
E. Valente,
2003,
American journal of human genetics.
Colin A. Johnson,
S. Gabriel,
E. Bertini,
2013,
European Journal of Human Genetics.
Jocelyn Laporte,
Luciano Merlini,
Christophe Béroud,
2012,
Human mutation.
E. Bertini,
M. Pane,
E. Mercuri,
2020,
Frontiers in Genetics.
C. Bosman,
R. Boldrini,
E. Bertini,
2004,
Acta Neuropathologica.
E. Bertini,
F. Pontén,
M. Uhlén,
2014,
EMBO molecular medicine.
Alessandro Bruselles,
Bjarne Udd,
Alessandra Ferlini,
2017,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
E. Bertini,
J. Bevilacqua,
C. Castiglioni,
2017,
Acta dermato-venereologica.
E. Bertini,
B. Giusti,
E. Mercuri,
2005,
Neurology.
E. Bertini,
R. Borgatti,
T. Mazza,
2021,
Journal of Medical Genetics.
R. Finkel,
E. Bertini,
M. Main,
2015,
Muscle & nerve.
G. Comi,
E. Bertini,
P. Striano,
2018,
Orphanet Journal of Rare Diseases.
G. Comi,
E. Bertini,
E. Mercuri,
2016,
Neurology.
G. Comi,
E. Bertini,
F. Bianco,
2015,
Neurology.
E. Bertini,
M. Pane,
E. Mercuri,
2013,
Brain : a journal of neurology.
G. Comi,
E. Bertini,
M. Pane,
2021,
Neuromuscular Disorders.
E. Bertini,
B. Wong,
E. Mercuri,
2020,
Neuromuscular Disorders.
G. Comi,
E. Bertini,
M. Sormani,
2013,
PLoS ONE.
E. Bertini,
A. Vanderver,
N. Brunetti‐Pierri,
2021,
Human mutation.
E. Bertini,
R. Carrozzo,
A. D’Amico,
2017,
Clinical genetics.
G. Comi,
E. Bertini,
E. Mercuri,
2018,
Genes.
E. Bertini,
E. Valente,
B. Dallapiccola,
2005,
Journal of Medical Genetics.
E. Bertini,
R. Borgatti,
G. Vasco,
2020,
Journal of Medical Genetics.
E. Bertini,
E. Valente,
B. Dallapiccola,
2013,
Handbook of Clinical Neurology.
Antonio Cerasa,
Gennaro Tartarisco,
Giovanni Pioggia,
2021,
IEEE Access.
G Pioggia,
M Petrarca,
S Summa,
2020,
Comput. Methods Programs Biomed..
E. Bertini,
S. Petrillo,
F. Piemonte,
2020,
Biomolecules.
E. Bertini,
A. D’Amico,
G. Siciliano,
2017,
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.
Colin A. Johnson,
S. Gabriel,
T. Ideker,
2015,
eLife.
E. Bertini,
J. Bevilacqua,
C. Castiglioni,
2014,
American journal of medical genetics. Part A.
E. Bertini,
R. Carrozzo,
G. Parisi,
2014,
Mitochondrion.
E. Bertini,
D. Hale,
K. Gibson,
1994,
The Journal of pediatrics.
E. Bertini,
T. Meitinger,
T. Strom,
2015,
American journal of human genetics.
E. Bertini,
M. Gonfiantini,
P. Francalanci,
2022,
American journal of medical genetics. Part A.
E. Bertini,
K. Bushby,
F. Muntoni,
2003,
Annals of neurology.
E. Bertini,
Massimiliano Valeriani,
A. D’Amico,
2017,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
E. Bertini,
A. D’Amico,
M. De Bardi,
2020,
EMBO reports.
Giuseppe De Nicolao,
Marika Pane,
Maurizio Rocchetti,
2016,
Neuromuscular Disorders.
E. Bertini,
C. Compagnucci,
A. Coppola,
2016,
American journal of human genetics.
E. Bertini,
F. Callea,
E. Bellacchio,
2017,
Leukemia & lymphoma.
E. Bertini,
P. Tonali,
G. Neri,
1993,
American journal of medical genetics.
Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy
E. Bertini,
G. Novelli,
F. Sangiuolo,
2004,
Prenatal diagnosis.
E. Bertini,
G. Silvestri,
A. Perna,
2020,
Neuromuscular Disorders.
E. Bertini,
P. Tonali,
E. Ricci,
1998,
Neurology.
E. Bertini,
R. Schiffmann,
R. Surtees,
2004,
Neurology.
E. Bertini,
O. Boespflug-Tanguy,
A. Fogli,
2002,
Neurology.
E. Bertini,
G. Cioni,
R. Battini,
2015,
BMC Medical Genetics.
E. Bertini,
G. Rizzoni,
A. Tessa,
2006,
Pediatric Nephrology.
E. Bertini,
B. Weschke,
A. D’Amico,
2008,
Brain : a journal of neurology.
E. Bertini,
S. Naidu,
D. Rodriguez,
2005,
Neurology.
Interferon-alpha may benefit steroid unresponsive chronic inflammatory demyelinating polyneuropathy.
E. Bertini,
V. Di Lazzaro,
P. Tonali,
1995,
Journal of neurology, neurosurgery, and psychiatry.
E. Bertini,
F. Vigevano,
M. Capua,
1989
.
E. Bertini,
K. Pelin,
E. Mercuri,
2014,
Human mutation.
E. Bertini,
P. Tonali,
S. Servidei,
2004,
Acta Neuropathologica.
J. Gécz,
E. Bertini,
G. Biagini,
2017,
Epilepsia.
E. Bertini,
A. Bentivoglio,
R. Carrozzo,
2017,
Clinical genetics.
E. Bertini,
M. Zoppello,
D. Riva,
2016,
American journal of medical genetics. Part A.
E. Bertini,
T. Huisman,
K. Zerres,
2014,
The Cerebellum.
E. Bertini,
S. Pro,
D. Diodato,
2019,
Orphanet Journal of Rare Diseases.
E. Bertini,
S. Rahman,
S. Parikh,
2018,
Journal of Inherited Metabolic Disease.
E. Bertini,
E. Valente,
G. Caridi,
2006,
Kidney international.
E. Bertini,
M. Shy,
J. Kamholz,
2003,
Annals of neurology.
E. Bertini,
C. Compagnucci,
S. Petrini,
2015,
Oncotarget.
E. Bertini,
C. Dionisi-Vici,
S. Boenzi,
2009,
Pediatric Research.
E. Bertini,
D. Rodriguez,
O. Boespflug-Tanguy,
2008,
Neurology.
E. Bertini,
O. Gabrielli,
A. D’Amico,
2015,
Orphanet Journal of Rare Diseases.
E. Bertini,
P. Sabatelli,
S. Squarzoni,
2002,
The Journal of Biological Chemistry.
E. Bertini,
A. D’Amico,
B. Bembi,
2013,
Molecular genetics and metabolism.
E. Bertini,
G. Federici,
A. Pastore,
2002,
Clinica chimica acta; international journal of clinical chemistry.
E. Bertini,
C. Palermo,
M. Pane,
2017,
Neuromuscular Disorders.
L. Ravà,
E. Bertini,
M. Pane,
2008
.
E. Bertini,
C. Duyckaerts,
F. Scaravilli,
2009,
Journal of the Neurological Sciences.
Enrico Bertini,
E. Bertini,
C. Compagnucci,
2016,
Molecular and Cellular Neuroscience.
E. Bertini,
G. Bedogni,
A. D’Amico,
2020,
The American journal of clinical nutrition.
Tommaso Mazza,
Jessica Rosati,
William B Dobyns,
2017,
American journal of human genetics.
E. Bertini,
L. Merlini,
A. J. van der Kooi,
2006,
Archives of neurology.
Silvio C. E. Tosatto,
E. Bertini,
M. Pane,
2022,
Acta neuropathologica communications.
Effects of levosimendan on mitochondrial function in patients with septic shock: a randomized trial.
E. Bertini,
R. Carrozzo,
A. Torraco,
2014,
Biochimie.
E. Bertini,
E. Mercuri,
Massimiliano Valeriani,
2011,
neurogenetics.
E. Bertini,
E. Mercuri,
Massimiliano Valeriani,
2011
.
E. Bertini,
R. Carrozzo,
A. D’Amico,
2018,
European Journal of Human Genetics.
E. Bertini,
R. Carrozzo,
N. Petit,
2003
.
E. Bertini,
A. Oliviero,
Massimiliano Valeriani,
1999,
Neurology.
E. Bertini,
M. Cilio,
2004
.
E. Bertini,
A. Federico,
A. Malandrini,
2022,
Neurological Sciences.
E. Bertini,
G. Vasco,
A. D’Amico,
2018,
neurogenetics.
E. Bertini,
S. Pro,
A. Rebelo,
2019,
Clinical genetics.
E. Bertini,
A. Jezela-Stanek,
R. Płoski,
2019,
Journal of Neurology.
E. Bertini,
G. Vasco,
F. Nicita,
2019,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
E. Bertini,
S. Pro,
E. Bellacchio,
2017,
Journal of the Neurological Sciences.
E. Bertini,
C. Aiello,
F. Nicita,
2016,
Journal of Neurological Sciences.
E. Bertini,
B. Garavaglia,
C. Dionisi-Vici,
1992,
European Journal of Pediatrics.
E. Bertini,
A. D’Amico,
A. Tessa,
2004,
Neurology.
Lee-Jen Wei,
G. Comi,
R. Finkel,
2020,
Journal of comparative effectiveness research.
E. Bertini,
H. Mandel,
S. Rahman,
2015,
Journal of Inherited Metabolic Disease.
E. Bertini,
R. Carrozzo,
R. Wanders,
2006,
Journal of Inherited Metabolic Disease.
E. Bertini,
F. Emma,
L. Salviati,
2011,
Pediatric Nephrology.
E. Bertini,
G. Uziel,
I. Ferrer,
2014,
Glia.
E. Bertini,
S. Petrillo,
D. Martinelli,
2014,
Journal of Inherited Metabolic Disease.
E. Bertini,
R. Carrozzo,
H. Prokisch,
2021,
Human mutation.
M. Minczuk,
E. Bertini,
R. Carrozzo,
2020,
Neurobiology of Disease.
D. Lynch,
S. Dimauro,
E. Bertini,
2003,
Neurology.
E. Bertini,
R. Carrozzo,
M. Zeviani,
2016,
Cell metabolism.
E. Bertini,
R. Carrozzo,
M. Zeviani,
2016
.
E. Bertini,
M. Zeviani,
S. Seneca,
1998,
Journal of Inherited Metabolic Disease.
E. Bertini,
A. Pichiecchio,
N. Nardocci,
2019,
Journal of clinical medicine.
E. Bertini,
G. Vasco,
A. Capuano,
2020,
Parkinsonism & related disorders.
E. Bertini,
S. Orcesi,
P. Lebon,
2005,
Neurology.
E. Bertini,
A. Polizzi,
M. Ruggieri,
2019,
Journal of Pediatric Neurology.
E. Bertini,
M. Lancaster,
F. Brancati,
2006
.
Caitlin V. Miller,
E. Bertini,
R. Borgatti,
2021,
Journal of Medical Genetics.
E. Bertini,
G. Tedeschi,
F. Santorelli,
2006,
Human mutation.
J. Opitz,
E. Bertini,
J. Chelly,
2008,
American journal of medical genetics. Part A.
E. Bertini,
R. Carrozzo,
E. Lamantea,
2017,
Orphanet Journal of Rare Diseases.
E. Bertini,
M. di Paola,
G. Colafati,
2022,
International journal of environmental research and public health.
E. Bertini,
R. Carrozzo,
A. Kessel,
2019,
Journal of inherited metabolic disease.
E. Bertini,
A. D’Amico,
S. Petrini,
2013,
BMC Medical Genetics.
S. Dimauro,
E. Bertini,
S. Servidei,
1994,
Advances in pediatrics.
E. Bertini,
B. Giusti,
R. Abbate,
1999,
Biochemical and biophysical research communications.
E. Bertini,
R. Borgatti,
E. Valente,
2020,
Neurology.
E. Bertini,
E. Valente,
B. Dallapiccola,
2005
.
E. Bertini,
A. D’Amico,
A. Tessa,
2008,
Neuromuscular Disorders.
E. Bertini,
A. D’Amico,
S. Cascioli,
2012,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
E. Bertini,
G. Cantalupo,
R. Michelucci,
2015,
Epilepsia.
E. Bertini,
G. Vasco,
A. Amodeo,
2021,
Minerva Pediatrica.
E. Bertini,
B. Giusti,
S. Petrini,
2005,
Annals of neurology.
E. Bertini,
G. Gensini,
M. Monici,
2008,
Journal of biomedical optics.
G. Pesole,
E. Bertini,
K. Bushby,
2016,
Journal of Cell Science.
E. Bertini,
R. Carrozzo,
G. Vasco,
2017,
International journal of molecular sciences.
Susanna Summa,
Maurizio Petrarca,
Gessica Vasco,
2018,
Front. Neurol..
E. Bertini,
G. Vasco,
E. Castelli,
2018,
Clinical biochemistry.
E. Bertini,
F. Cecconi,
M. Tartaglia,
2017,
Italian Journal of Pediatrics.
E. Bertini,
R. Carrozzo,
G. Federici,
2001,
European journal of clinical investigation.
E. Bertini,
M. Pane,
E. Mercuri,
2020,
PloS one.
E. Bertini,
E. Mercuri,
E. Ricci,
2012,
Acta Neuropathologica.
N. Bresolin,
G. Comi,
S. Corti,
2016,
Journal of Molecular Neuroscience.
E. Bertini,
N. Romero,
C. Paradas,
2018,
Acta neuropathologica communications.
E. Bertini,
G. Vasco,
E. Valente,
2021,
Human mutation.
E. Bertini,
S. Züchner,
F. Santorelli,
2021,
Frontiers in Neurology.
E. Bertini,
B. Bernardi,
E. Valente,
2013,
neurogenetics.
E. Bertini,
G. Vasco,
A. Durr,
2021,
The Lancet Neurology.
E. Bertini,
A. Oliviero,
Massimiliano Valeriani,
1997,
Muscle & nerve.
E. Bertini,
C. Dionisi-Vici,
S. Boenzi,
2016,
Clinica chimica acta; international journal of clinical chemistry.
E. Bertini,
F. Aarsen,
L. de Meirleir,
2019,
The lancet. Diabetes & endocrinology.
E. Bertini,
G. Vasco,
G. Tasca,
2018,
The Cerebellum.
E. Bertini,
H. Lue,
W. Antonin,
2019,
The Cerebellum.
E. Bertini,
A. Oliveira,
Wladimir Bocca Vieira de Rezende Pinto,
2021,
Orphanet Journal of Rare Diseases.
E. Bertini,
G. Comi,
C. Angelini,
2005,
Journal of Neurology, Neurosurgery & Psychiatry.
E. Bertini,
R. Carrozzo,
G. Vasco,
2019,
Parkinsonism & related disorders.
E. Bertini,
T. Huisman,
A. Poretti,
2013,
Neuropediatrics.
E. Bertini,
G. de Saint Basile,
C. Dionisi-Vici,
1992,
American journal of medical genetics.
Antonio Novelli,
Giuseppe Guglielmi,
Enrico Bertini,
2019,
American journal of medical genetics. Part A.
E. Bertini,
S. Petrini,
S. Petrillo,
2013,
International journal of molecular sciences.
E. Bertini,
M. Pane,
E. Mercuri,
2020,
The Journal of pediatrics.
E. Bertini,
A. D’Amico,
S. Petrini,
2012,
Neurology.
E. Bertini,
B. Wong,
E. Mercuri,
2021,
Neuromuscular Disorders.
E. Bertini,
G. Vasco,
E. Castelli,
2021,
Cerebellum & ataxias.
E. Bertini,
G. Vasco,
S. Rossi,
2015,
Journal of NeuroEngineering and Rehabilitation.
S. Corti,
E. Bertini,
C. Compagnucci,
2014,
Cellular and Molecular Life Sciences.
E. Bertini,
M. Mascalchi,
R. Guerrini,
2015,
Journal of Medical Genetics.
E. Bertini,
M. Sormani,
E. Mazzone,
2014,
Neuromuscular Disorders.
E. Bertini,
A. Sferra,
F. Vigevano,
2012,
neurogenetics.
E. Bertini,
R. Guerrini,
D. Mei,
2011,
Epilepsia.
E. Bertini,
C. Compagnucci,
P. Billuart,
2016,
Stem cells translational medicine.
E. Bertini,
N. Brunetti‐Pierri,
M. Polak,
2020,
The lancet. Diabetes & endocrinology.
Giovanni Pioggia,
Enza Maria Valente,
Enrico Castelli,
2019,
Comput. Methods Programs Biomed..
E. Bertini,
P. Tonali,
E. Ricci,
1992,
Journal of the Neurological Sciences.
E. Bertini,
G. Vasco,
E. Castelli,
2019,
The Cerebellum.
E. Bertini,
F. Bianco,
M. Pane,
2014,
Neuropediatrics.
Insights from genotype–phenotype correlations by novel SPEG mutations causing centronuclear myopathy
E. Bertini,
H. Per,
J. Bevilacqua,
2017,
Neuromuscular Disorders.
E. Bertini,
T. Crawford,
W. Hwu,
2019
.
E. Bertini,
E. Cristiano,
H. Gonorazky,
2016,
Journal of Neuroimmunology.
E. Bertini,
K. Bushby,
F. Muntoni,
2002,
Neuromuscular Disorders.
E. Bertini,
B. Darras,
2015,
Neurology.
E. Bertini,
L. Di Marcotullio,
M. Pane,
2021,
eLife.
E. Bertini,
G. Melino,
A. Terrinoni,
2007,
Journal of Human Genetics.
E. Bertini,
C. Compagnucci,
A. Di Giulio,
2017,
Aging.
R. Finkel,
E. Bertini,
M. Main,
2011,
Neuromuscular Disorders.
Giuseppe Zanotti,
Ernesto Carafoli,
Enza Maria Valente,
2017,
Biochimica et biophysica acta. Molecular basis of disease.
R. Boldrini,
E. Bertini,
A. D’Amico,
2005,
Neuromuscular Disorders.
E. Bertini,
M. Sormani,
E. Mazzone,
2013,
Neuromuscular Disorders.
G. Comi,
E. Bertini,
E. Mazzone,
2019,
PloS one.
E. Bertini,
M. Sormani,
E. Mazzone,
2018,
PloS one.
E. Bertini,
R. Carrozzo,
F. Santorelli,
2012,
neurogenetics.
E. Bertini,
W. Hwu,
D. Vivo,
2017,
Neurology.
E. Bertini,
Q. Waisfisz,
M. Knaap,
2018
.
E. Bertini,
S. Petrillo,
K. Aquilano,
2019,
Front. Cell. Neurosci..
E. Bertini,
A. D’Amico,
S. Messina,
2011,
Epileptic disorders.
E. Bertini,
V. Petruzzella,
A. Signorile,
2006,
The Italian journal of biochemistry.
E. Bertini,
F. Brancati,
A. Novelli,
2017,
Brain and Development.
E. Bertini,
R. Carrozzo,
M. Zeviani,
2018,
EMBO molecular medicine.
E. Bertini,
C. Compagnucci,
S. Petrini,
2015,
Biochemical and biophysical research communications.
E. Bertini,
M. Severino,
G. Zanni,
2021,
Epileptic disorders : international epilepsy journal with videotape.
E. Bertini,
B. Dallapiccola,
A. Ferlini,
2013,
neurogenetics.
E. Bertini,
M. Tarnopolsky,
G. Enns,
2023,
Neurology.
E. Bertini,
S. Gospe,
2015,
Neurology.
E. Bertini,
G. Vasco,
Massimiliano Valeriani,
2021,
Brain sciences.
E. Bertini,
G. Boriani,
E. Mercuri,
2012,
Orphanet Journal of Rare Diseases.
E. Bertini,
C. Compagnucci,
S. Petrini,
2017,
Aging.
E. Bertini,
G. Pioggia,
G. Vasco,
2020,
Data in brief.
E. Bertini,
G. Federici,
A. Pastore,
2005,
Analytical biochemistry.
C. Bosman,
R. Boldrini,
E. Bertini,
1990,
Brain and Development.
E. Bertini,
N. Romero,
J. Böhm,
2016,
Journal of neuromuscular diseases.
E. Bertini,
G. Cantalupo,
L. Parmeggiani,
2021,
Journal of Human Genetics.
Maurizio Petrarca,
Gessica Vasco,
Enrico Castelli,
2016,
PloS one.
E. Bertini,
M. Pane,
E. Mercuri,
2008,
Developmental medicine and child neurology.
C. Bosman,
R. Boldrini,
E. Bertini,
2005,
Virchows Archiv A.
E. Bertini,
L. Pantoni,
D. Inzitari,
2005,
European journal of neurology.
C. Bosman,
E. Bertini,
E. Ricci,
1990,
European Journal of Pediatrics.
E. Bertini,
C. Compagnucci,
S. Petrini,
2017,
Oncotarget.
E. Bertini,
E. Mercuri,
2012,
Neuromuscular Disorders.
E. Bertini,
M. Casacchia,
G. Meco,
1978
.
E. Bertini,
E. Valente,
B. Dallapiccola,
2013,
Handbook of clinical neurology.
E. Bertini,
G. Uziel,
A. Salviati,
2000,
Human Mutation.
G. Comi,
E. Bertini,
M. Sormani,
2015,
PloS one.
E. Bertini,
G. Bedogni,
A. D’Amico,
2021,
Clinical nutrition.
E. Bertini,
Massimiliano Valeriani,
A. Capuano,
2015,
The Journal of Headache and Pain.
E. Bertini,
R. Borgatti,
L. Provenzi,
2021,
Disability and rehabilitation.
E. Bertini,
Massimiliano Valeriani,
A. Capuano,
2018,
The Cerebellum.
E. Bertini,
Massimiliano Valeriani,
A. Capuano,
2016,
Parkinsonism & related disorders.
E. Bertini,
K. Strauss,
A. D’Amico,
2023,
Annals of clinical and translational neurology.
E. Bertini,
A. D’Amico,
S. Petrini,
2011,
Seminars in pediatric neurology.
E. Bertini,
G. Uziel,
R. Estévez,
2014,
neurogenetics.
E. Bertini,
M. Ermani,
O. Boespflug-Tanguy,
2006,
Advances in experimental medicine and biology.
L. Wilkins,
G. Comi,
E. Bertini,
2016,
Neurology.
E. Bertini,
E. Mazzone,
C. Palermo,
2014,
PLoS currents.
E. Bertini,
C. Compagnucci,
M. Tartaglia,
2021,
Brain : a journal of neurology.
E. Bertini,
G. Vasco,
Massimiliano Valeriani,
2018,
International journal of rehabilitation research. Internationale Zeitschrift fur Rehabilitationsforschung. Revue internationale de recherches de readaptation.
R. Boldrini,
E. Bertini,
E. Ricci,
2016,
Journal of Neurology.
E. Bertini,
A. Capuano,
F. Vigevano,
2019,
Acta Neurologica Belgica.
E. Bertini,
R. Carrozzo,
A. D’Amico,
2019,
Human mutation.
E. Bertini,
M. Sormani,
E. Mazzone,
2015,
Neuromuscular Disorders.
E. Bertini,
F. Santorelli,
G. Ghiggeri,
2007,
Journal of the American Society of Nephrology.
R. Boldrini,
E. Bertini,
A. D’Amico,
2005,
Neuropediatrics.
E. Bertini,
A. D’Amico,
F. Musumeci,
2016,
Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.
E. Bertini,
M. Pane,
E. Mercuri,
2013,
Brain : a journal of neurology.
D. MacArthur,
M. Hurles,
A. Hoischen,
2013,
American journal of human genetics.
S. Corti,
E. Bertini,
C. Compagnucci,
2013,
Cellular and Molecular Life Sciences.
Arturo E. Hernandez,
B. Carlin,
E. Bertini,
2021,
Statistics in Biosciences.
E. Bertini,
B. Bernardi,
G. Colafati,
2013,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
R. Finkel,
E. Bertini,
M. Schroth,
2017,
Neuromuscular Disorders.
Neri,
E. Bertini,
M. Pane,
2020
.
G. Comi,
E. Bertini,
F. Bianco,
2015,
Neurology.
E. Bertini,
L. Di Marcotullio,
T. Mazza,
2017,
American journal of human genetics.
E. Bertini,
N. Romero,
C. Paradas,
2018,
Acta Neuropathologica Communications.
E. Bertini,
M. Capua,
1995,
Movement disorders : official journal of the Movement Disorder Society.
E. Bertini,
G. Vasco,
M. Petrarca,
2019,
Cerebellum & Ataxias.
E. Bertini,
A. Vanderver,
D. Rowitch,
2014,
Annals of neurology.
E. Bertini,
P. Billuart,
J. Chelly,
1996,
American journal of medical genetics.
E. Bertini,
M. Pane,
E. Mercuri,
2021,
Neuromuscular Disorders.
E. Bertini,
R. Carrozzo,
A. D’Amico,
2018,
European Journal of Human Genetics.
E. Bertini,
A. D’Amico,
2012,
Cerebrovascular Diseases.
E. Bertini,
A. Tessa,
M. Santorelli,
2004
.
E. Bertini,
F. Brancati,
E. Valente,
2010,
Human mutation.
E. Bertini,
F. Santorelli,
F. Zonta,
2018,
Neurobiology of Disease.
G. Comi,
E. Bertini,
E. Mazzone,
2019,
PloS one.
S. Gabriel,
M. Daly,
D. MacArthur,
2014,
The Journal of clinical investigation.
Stefano Rossi,
Paolo Cappa,
Maurizio Petrarca,
2015,
Journal of NeuroEngineering and Rehabilitation.
E. Bertini,
M. Genuardi,
G. Neri,
1987,
American journal of medical genetics.
E. Bertini,
M. Mascalchi,
R. Guerrini,
2015,
Journal of Medical Genetics.