C. Goizet
发表
A. Durr,
S. Forlani,
A. Brice,
2009,
Brain : a journal of neurology.
C. Ponting,
D. Bonthron,
E. Bertini,
2006,
Nature Genetics.
D. Milea,
D. Bonneau,
P. Amati‐Bonneau,
2008,
Annals of neurology.
H. Cochet,
C. Rooryck,
D. Lacombe,
2020,
The International Journal of Cardiovascular Imaging.
C. Rooryck,
D. Lacombe,
C. Goizet,
2015,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
Hans H. Jung,
C. Tilikete,
M. Koenig,
2018,
JAMA neurology.
Alain Calender,
Laurence Faivre,
E. Babin,
2006,
Human mutation.
M. Montaudon,
I. Sibon,
C. Goizet,
2008,
Neurology.
E. Bertini,
C. Garel,
R. Touraine,
2012,
Orphanet Journal of Rare Diseases.
J. Vallat,
C. Goizet,
L. Magy,
2015,
Journal of Medical Genetics.
J. Vallat,
C. Goizet,
L. Magy,
2015,
Journal of Medical Genetics.
H. Nittono,
P. Clayton,
F. Mochel,
2014,
Journal of Inherited Metabolic Disease.
L. Lagae,
A. Vanderver,
K. Devriendt,
2015,
American journal of medical genetics. Part A.
P. Fergelot,
M. Bryckaert,
P. Nurden,
2013,
Arteriosclerosis, thrombosis, and vascular biology.
M. Holder-Espinasse,
D. Lacombe,
D. Bonneau,
2010,
European journal of medical genetics.
M. Koenig,
P. Calvas,
C. Geny,
2016,
Human mutation.
M. Tekin,
K. Arnos,
A. Pandya,
2009,
European Journal of Human Genetics.
L. Christa,
C. Barnérias,
I. Desguerre,
2018,
Journal of Inherited Metabolic Disease.
C. Goizet,
D. Raldúa,
P. J. Babin,
2014,
Progress in Neurobiology.
J. Orgogozo,
V. Dousset,
P. Calvas,
2007,
Annals of neurology.
J. Viallard,
P. Duffau,
C. Goizet,
2017,
Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery.
D. Lacombe,
F. Tison,
I. Sibon,
2011,
European journal of medical genetics.
J. Gécz,
A. Green,
B. Echenne,
2009,
European Journal of Human Genetics.
V. Fraix,
L. Kremer,
M. Koenig,
2021,
Genetics in Medicine.
M. Vidaud,
B. Parfait,
C. Goizet,
2019,
European journal of medical genetics.
G. L. Masson,
J. Vallat,
C. Goizet,
2019,
Journal of the Neurological Sciences.
J. Yates,
A. Vanderver,
D. Timmann,
2015,
Nature Communications.
M. Bouvard,
N. Philip,
D. Lacombe,
2006,
American journal of medical genetics. Part A.
C. Petit,
F. Denoyelle,
V. Drouin‐Garraud,
2005,
Archives of otolaryngology--head & neck surgery.
H. Mefford,
O. Devinsky,
A. Bayat,
2022,
EBioMedicine.
A. Durr,
J. Melki,
S. Hanein,
2009,
Neurology.
D. Lacombe,
S. Aymé,
M. Breuning,
1998,
American journal of medical genetics.
S. Lehéricy,
F. Mochel,
C. Goizet,
2020,
Current opinion in neurology.
M. Battino,
J. Stéphan,
I. Chapple,
2018
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M. Battino,
J. Stéphan,
I. Chapple,
2018,
The Journal of Biological Chemistry.
C. Schwartz,
S. Lenzner,
H. Van Esch,
2005,
Journal of Medical Genetics.
Enrico Amico,
Philippe Allain,
Mark Mühlau,
2017,
The Lancet. Neurology.
P. Derambure,
P. Fergelot,
S. Rheims,
2021,
Orphanet Journal of Rare Diseases.
P. Fergelot,
C. Marchal,
C. Rooryck,
2012,
European journal of medical genetics.
E. Haan,
S. Robertson,
L. Faivre,
2011,
European journal of medical genetics.
C. Marchal,
A. Toutain,
N. Philip,
2009,
Journal of Neurology, Neurosurgery & Psychiatry.
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.
M. Polak,
D. Lacombe,
S. Romana,
2009,
Human molecular genetics.
B. Dubois,
J. Pariente,
M. Ruberg,
2013,
Journal of Alzheimer's disease : JAD.
O. Rascol,
B. Ghetti,
P. Payoux,
2009,
Movement disorders : official journal of the Movement Disorder Society.
A. Vanderver,
R. Schiffmann,
D. Timmann,
2020,
The Journal of clinical endocrinology and metabolism.
E. Bertini,
A. Vanderver,
D. Timmann,
2019,
Neurology. Genetics.
A. Vanderver,
B. Brais,
C. Stevens,
2013,
Journal of Medical Genetics.
E. Bertini,
D. Pham‐Dinh,
R. Surtees,
2001,
American journal of human genetics.
I. Sibon,
C. Goizet,
M. Miné,
2010,
Archives of ophthalmology.
G. Másson,
C. Goizet,
X. Ferrer,
2004,
Journal of Medical Genetics.
A. Durr,
F. Lamari,
G. Stevanin,
2018,
Brain : a journal of neurology.
C. Tilikete,
F. Lamari,
V. Deramecourt,
2018,
Orphanet Journal of Rare Diseases.
D. Lacombe,
F. Tison,
S. Lyonnet,
2002,
Neurology.
Leber’s optic neuropathy associated with disseminated white matter disease: A case report and review
B. Brochet,
M. Martin-Négrier,
C. Goizet,
2009,
Clinical Neurology and Neurosurgery.
F. Salachas,
J. Pouget,
T. Maisonobe,
2017,
Human mutation.
A. Toutain,
L. Pasquier,
L. Richard,
2019,
Molecular genetics & genomic medicine.
F. Sturtz,
C. Goizet,
P. Derouault,
2022,
Journal of personalized medicine.
F. Tison,
P. Latour,
C. Goizet,
2012,
Neuromuscular Disorders.
T. Eggermann,
K. Huehne,
B. Rautenstrauss,
2008,
Neuromuscular Disorders.
A. Vlahou,
P. Fergelot,
M. Battino,
2016
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J. Vallat,
P. Couratier,
C. Goizet,
2016,
Revue neurologique.
P. Calvas,
M. Cossée,
C. Rooryck,
2022,
Scientific Reports.
N. Elleuch,
A. Brice,
G. Stevanin,
2009,
Clinical genetics.
E. Pasmant,
M. Vidaud,
D. Vidaud,
2018,
Neuro-oncology.
P. Vermersch,
M. Giroud,
M. Clanet,
2015,
Brain : a journal of neurology.
A. Toutain,
T. Jouary,
D. Lacombe,
2008,
The Journal of investigative dermatology.
A. Durr,
S. Forlani,
C. Depienne,
2009,
Human mutation.
C. Rooryck,
D. Lacombe,
L. Taine,
2004,
European Journal of Human Genetics.
F. Rivier,
B. Echenne,
R. Horvath,
2018,
Neurology: Genetics.
D. Halley,
W. Lissens,
A. Jansen,
2013,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
A. Vanderver,
R. Schiffmann,
A. Majnemer,
2018,
Pediatric neurology.
A. Durr,
P. Convers,
M. Koenig,
2015,
Annals of neurology.
A. Gasbarrini,
E. Arbustini,
D. Lacombe,
2018,
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver.
Majida Charif,
G. Lenaers,
C. Goizet,
2015,
Frontiers in Genetics.
K. Petry,
P. Latour,
C. Goizet,
2001,
Journal of the peripheral nervous system : JPNS.
A. Durr,
G. Stevanin,
P. Pennamen,
2018,
Clinical Neurology and Neurosurgery.
M. Votruba,
C. La Morgia,
P. Yu-Wai-Man,
2020,
Neurology: Genetics.
F. Benfenati,
P. Striano,
L. Mazzola,
2022,
Frontiers in Cell and Developmental Biology.
M. Bryckaert,
N. Balayn,
W. Vainchenker,
2019,
Blood.
A. Durr,
P. Krystkowiak,
A. Bachoud-Lévi,
2017,
Movement disorders : official journal of the Movement Disorder Society.
U. Spampinato,
A. Danek,
F. Tison,
2013,
Parkinsonism & related disorders.
H. Gin,
V. Rigalleau,
C. Marchal,
2013,
JIMD reports.
S. Klebe,
C. van Broeckhoven,
A. Durr,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
P. Fergelot,
J. Melki,
A. Verloes,
2016,
Clinical genetics.
C. Petit,
F. Denoyelle,
V. Drouin‐Garraud,
2004,
American journal of medical genetics. Part A.
J. Honnorat,
J. Saurin,
E. Buscarini,
2007,
Genetics in Medicine.
A. Green,
D. Bonthron,
E. Bertini,
2007,
American journal of human genetics.
L. Lagae,
H. Brunner,
Y. Crow,
2005,
Journal of Medical Genetics.
S. Lepreux,
F. Boralevi,
Pierre Vabres,
2005,
The British journal of dermatology.
C. Phornphutkul,
C. Goizet,
D. Barbouth,
2015,
Orphanet Journal of Rare Diseases.
F. Denoyelle,
D. Lacombe,
D. Bonneau,
2008,
American journal of medical genetics. Part A.
D. Lacombe,
J. Pedespan,
C. Goizet,
2003,
Annales de genetique.
D. Bouhassira,
J. Politei,
N. Üçeyler,
2016,
CNS neuroscience & therapeutics.
G. L. Masson,
J. Vallat,
P. Couratier,
2018,
Journal of the Neurological Sciences.
F. Denoyelle,
V. Drouin‐Garraud,
B. Gilbert-Dussardier,
2010,
International journal of pediatric otorhinolaryngology.
M. Bouvard,
D. Lacombe,
L. Taine,
2000,
American journal of medical genetics.
D. Geschwind,
M. Vidailhet,
D. Galasko,
2018,
European Journal of Human Genetics.
D. Geschwind,
M. Vidailhet,
D. Galasko,
2018,
European Journal of Human Genetics.
D. Geschwind,
P. Svenningsson,
J. Pariente,
2015,
Nature Genetics.
A. Durr,
D. Hannequin,
S. Forlani,
2011,
Human mutation.
A. Durr,
M. Hutchinson,
S. Hanein,
2008,
American journal of human genetics.
F. Pasquier,
A. Durr,
D. Hannequin,
2008,
Brain : a journal of neurology.
G. Gyapay,
A. Durr,
F. Lamari,
2012,
American journal of human genetics.
Patricia Fergelot,
Paquita Nurden,
William Vainchenker,
2011,
Blood.
N. Boddaert,
A. Toutain,
M. Picot,
2017,
Clinical Genetics.
D. Vidaud,
D. Lacombe,
C. Goizet,
2014,
European journal of medical genetics.
A. Durr,
A. Dürr,
C. Goizet,
2002,
Neurology.
C. Garel,
A. Afenjar,
A. Toutain,
2018,
Genetics in Medicine.
N. Drouot,
A. Durr,
L. Schöls,
2009,
Brain : a journal of neurology.
A. Singleton,
M. Vidailhet,
A. Durr,
2018,
JAMA neurology.
C. Rooryck,
C. Goizet,
B. Arveiler,
2010,
American journal of medical genetics. Part A.
C Binquet,
A. Mégarbané,
A. Toutain,
2013,
Clinical genetics.
K. Dujardin,
A. Destée,
L. Buée,
2014,
Brain : a journal of neurology.
J. Gécz,
A. Green,
B. Echenne,
2009,
European Journal of Human Genetics.
S. Julia,
R. Touraine,
A. Afenjar,
2018,
Journal of Medical Genetics.
A. Represa,
C. Pellegrino,
E. Buhler,
2012,
Human molecular genetics.
P. Jouk,
F. Escande,
C. Goizet,
2020,
Human mutation.
A. Durr,
D. Hannequin,
A. Brice,
2017,
Brain : a journal of neurology.
C. Lelliott,
B. Yalcin,
P. Grant,
2020,
American journal of human genetics.
F. Lamari,
F. Ory-Magne,
C. Goizet,
2020
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S. Tezenas du Montcel,
C. Duyckaerts,
A. Durr,
2018,
Brain : a journal of neurology.
J. Laplanche,
S. Julia,
A. Toutain,
2015,
Genetics in Medicine.
L. Faivre,
C. Philippe,
C. Thauvin-Robinet,
2018,
Clinical genetics.
S. Pinson,
F. Coulet,
F. Soubrier,
2004,
Human mutation.
D. Lacombe,
M. Breuning,
C. Goizet,
1997
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C. Goizet,
2020,
Journal of Neurology, Neurosurgery, and Psychiatry.
A. Durr,
C. Depienne,
A. Brice,
2015,
Brain : a journal of neurology.
P. Bauer,
P. Latour,
C. Hendriksz,
2016,
Molecular genetics and metabolism.
P. Holmans,
S. Tabrizi,
A. Durr,
2016,
Annals of neurology.
H. Smeets,
M. Koenig,
J. Mandel,
2010,
Human molecular genetics.
C. Goizet,
P. Barat,
O. Puel,
2004,
Acta paediatrica.
A. Vlahou,
P. Fergelot,
M. Battino,
2016,
The FEBS journal.
Y. Agid,
S. Rivaud-Pechoux,
M. Koenig,
2004,
Brain : a journal of neurology.
E. Lazaro,
P. Blanco,
R. Rossignol,
2017,
Rheumatology.
T. Pierson,
C. Toro,
D. Mazza,
2019,
Journal of Medical Genetics.
P. Fergelot,
P. Pennamen,
C. Rooryck,
2019,
American journal of medical genetics. Part A.
John J. Mitchell,
K. White,
F. Stewart,
2018
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M. Vidailhet,
A. Durr,
M. Polak,
2012,
Journal of Neurology, Neurosurgery & Psychiatry.
L. Defebvre,
A. Destée,
L. Buée,
2013,
Neurobiology of Disease.
A. Durr,
A. Dürr,
C. Goizet,
2002,
Journal of medical genetics.
R. Abou Jamra,
M. V. van Slegtenhorst,
C. Goizet,
2020,
Molecular genetics & genomic medicine.
J. Yagüe,
M. Pancorbo,
R. Sánchez-Valle,
2005,
Human Genetics.
F. Mauguière,
S. Vukusic,
C. Confavreux,
2009,
Brain : a journal of neurology.
F. Mauguière,
F. Sedel,
S. Vukusic,
2011,
Revue neurologique.
V. Dousset,
B. Brochet,
O. Boespflug-Tanguy,
2008,
Clinical Neurology and Neurosurgery.
I. Durieu,
Z. Amoura,
C. Goizet,
2017,
La Revue de medecine interne.
Confirmation of Atypical Presentation With Nonprogressive Leukodystrophy in eIF2B-Related Disorders.
D. Lacombe,
O. Boespflug-Tanguy,
J. Pedespan,
2019,
Pediatric neurology.
D. Lacombe,
L. Taine,
C. Goizet,
1997,
Annales de genetique.
C. Möller,
M. Koenig,
D. Lacombe,
2017,
Neurobiology of Disease.
P. Robinson,
E. Arbustini,
C. Béroud,
2012,
American journal of human genetics.
F. Salachas,
N. le Forestier,
A. Echaniz-Laguna,
2020,
Orphanet Journal of Rare Diseases.
M. Sarazin,
F. Lamari,
D. Wallon,
2020,
Journal of Neurology.
D. Bonneau,
G. Lenaers,
P. Reynier,
2020,
Experimental Neurology.
LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2
P. Latour,
T. Stojkovic,
C. Goizet,
2019,
European Journal of Human Genetics.
LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2
P. Latour,
T. Stojkovic,
C. Goizet,
2019,
European Journal of Human Genetics.
A. Hoischen,
N. Drouot,
J. Veltman,
2010,
American journal of human genetics.
H. Mefford,
H. Rehm,
M. Koenig,
2021,
Brain : a journal of neurology.
A. Durr,
F. Lamari,
S. Picaud,
2021,
The Journal of experimental medicine.
A. Munnich,
F. Denoyelle,
D. Lacombe,
2016,
Human mutation.
C. Goizet,
J. Chateil,
C. Delleci,
2019,
European journal of medical genetics.
A. Verloes,
C. Rooryck,
D. Lacombe,
2007,
Neuropediatrics.
T. Barnetche,
C. Cazeneuve,
C. Goizet,
2021,
Amyotrophic lateral sclerosis & frontotemporal degeneration.
A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP
M. Ruberg,
A. Durr,
S. Forlani,
2007,
Neurogenetics.
P. Svenningsson,
A. Durr,
A. Brice,
2021,
Neurogenetics.
C. Depienne,
G. Stevanin,
P. Pennamen,
2021,
European Journal of Human Genetics.
M. Ruberg,
A. Dürr,
P. Ribai,
2006,
Neurology.
P. Berger,
D. Lacombe,
C. Rocher,
2013,
Antioxidants & redox signaling.
M. Martin-Négrier,
D. Lacombe,
C. Combe,
2019,
Clinical genetics.
B. O’Roak,
A. Munnich,
G. Jondeau,
2020,
Journal of Medical Genetics.
A. Durr,
A. Brice,
G. Stevanin,
2016,
Human molecular genetics.
A. Durr,
D. Hannequin,
P. Ribai,
2011,
Movement disorders : official journal of the Movement Disorder Society.
C. Goizet,
C. Durand,
C. Delleci,
2022,
BMC Neurology.
M. Koenig,
F. Rivier,
M. Cossée,
2018,
The Journal of molecular diagnostics : JMD.
A. Durr,
F. Rivier,
G. Stevanin,
2018,
Human mutation.
C. Garel,
A. Afenjar,
A. Toutain,
2018,
Genetics in Medicine.
P. Calvas,
C. Moutou,
C. Goizet,
2020,
Scientific Reports.
G. Choukroun,
C. Goizet,
A. Servais,
2015,
Archives de pédiatrie.
Alexandra Durr,
Cécile Cazeneuve,
David Devos,
2012,
Archives of neurology.
M. Ruberg,
A. Durr,
D. Hannequin,
2008,
Brain : a journal of neurology.
J. Vallat,
C. Goizet,
L. Magy,
2018,
Neurology.
A. Vanderver,
I. Thiffault,
B. Brais,
2023,
Journal of Medical Genetics.
C. Goizet,
P. Charron,
P. Réant,
2020,
Archives of cardiovascular diseases.
S. Klebe,
C. Duyckaerts,
C. van Broeckhoven,
2020,
Genetics in Medicine.
S. Klebe,
C. Duyckaerts,
C. van Broeckhoven,
2020,
Genetics in Medicine.
M. Koenig,
W. Meissner,
A. Eusebio,
2016,
Movement disorders : official journal of the Movement Disorder Society.
C. Goizet,
X. Ferrer,
A. Vital,
2013,
Journal of the peripheral nervous system : JPNS.
A. Durr,
C. Orssaud,
G. Stevanin,
2020,
Journal of internal medicine.
G. Choukroun,
C. Goizet,
A. Servais,
2015,
Nephrologie & therapeutique.
Clinical and Radiological Characteristics in Multiple Sclerosis Patients with Large Cavitary Lesions
S. Vukusic,
B. Brochet,
G. Edan,
2012,
European Neurology.
Emmanuel Dupoux,
R. de Diego-Balaguer,
A. Durr,
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PloS one.
R. Favre,
P. Calvas,
C. Moutou,
2020,
Scientific Reports.
Y. Duffourd,
C. Goizet,
J. Inamo,
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P. Fergelot,
A. Mégarbané,
N. Chassaing,
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Journal of Human Genetics.
B. Eymard,
B. Fontaine,
C. Goizet,
2010,
Muscle & nerve.
G. Labesse,
M. Sitbon,
D. Maltête,
2019,
Scientific Reports.
J. Pedespan,
C. Goizet,
M. Thibaud,
2020,
Neuropediatrics.
P. Fergelot,
P. Brugières,
D. Lacombe,
2014,
Parkinsonism & Related Disorders.
Renal involvement is frequent in adults with primary mitochondrial disorders: an observational study
M. Martin-Négrier,
C. Combe,
C. Goizet,
2022,
Clinical kidney journal.
L. Defebvre,
L. Buée,
P. Amouyel,
2010,
Journal of Neurology, Neurosurgery & Psychiatry.
A. Toutain,
P. Calvas,
B. Gilbert-Dussardier,
2019,
Journal of the Neurological Sciences.
P. Fergelot,
M. Bryckaert,
P. Nurden,
2017,
Arteriosclerosis, thrombosis, and vascular biology.
J. Vallat,
C. Goizet,
L. Magy,
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Annals of neurology.
C. Goizet,
X. Ferrer,
A. Vital,
2005,
Neuromuscular Disorders.
J. Toutain,
C. Rooryck,
D. Lacombe,
2012,
European journal of medical genetics.
D. Timmann,
A. Durr,
L. Schöls,
2023,
American journal of human genetics.
P. Jouk,
D. Lacombe,
C. Goizet,
2019,
European journal of medical genetics.
Emmanuel Dupoux,
R. de Diego-Balaguer,
A. Durr,
2016,
PloS one.
P. Fergelot,
G. Stevanin,
B. Desnous,
2023,
Movement disorders : official journal of the Movement Disorder Society.
G. Vasco,
B. Brais,
G. Stevanin,
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Journal of Neurology.
M. Koenig,
F. Rivier,
M. Cossée,
2018
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J. Toutain,
C. Rooryck,
D. Lacombe,
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European journal of medical genetics.
Henri Vandendriessche,
A. Bachoud-Lévi,
E. Audureau,
2022,
Parkinsonism & related disorders.
C. Goizet,
A. Servais,
N. Bendelac,
2015,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
O. Rascol,
B. Ghetti,
P. Payoux,
2009,
Movement disorders : official journal of the Movement Disorder Society.
M. Chupin,
A. Durr,
A. Brice,
2022,
The Lancet Neurology.
P. Berger,
D. Lacombe,
C. Rocher,
2013,
Antioxidants & redox signaling.
A. Durr,
P. Convers,
M. Koenig,
2015,
Annals of neurology.
A. Durr,
M. Hutchinson,
S. Hanein,
2008,
American journal of human genetics.
A. Durr,
S. Forlani,
C. Depienne,
2009,
Human mutation.
G. Gyapay,
A. Durr,
F. Lamari,
2012,
American journal of human genetics.
D. Lacombe,
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