A. Roubertie
发表
S. Hemm,
N. Vayssiere,
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2000,
The Lancet.
Jeroen B. Klevering,
C. Hoyng,
P. Sergouniotis,
2020,
Journal of Medical Genetics.
P. Genton,
Ying-Hui Fu,
A. Hunter,
2012,
Neurology.
F. Rivier,
B. Echenne,
A. Bonafe,
2010,
Brain and Development.
E. Bertini,
D. Lev,
B. Pode-Shakked,
2020,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
F. Rivier,
A. Bonafe,
N. Leboucq,
2016,
Journal of neuroradiology. Journal de neuroradiologie.
L. Lagae,
L. Hertz-Pannier,
F. Rivier,
2008,
Journal of Medical Genetics.
C. Fallet-Bianco,
N. Boddaert,
N. Lebrun,
2010,
Human molecular genetics.
G. Cambonie,
A. Roubertie,
S. Badiou,
2021,
BMC Pediatrics.
A. Roubertie,
V. Gautheron,
S. Chabrier,
2010,
Revue neurologique.
N. Boddaert,
A. Toutain,
N. Philip,
2009,
Archives of neurology.
L. Vercueil,
A. Afenjar,
S. Auvin,
2013,
Orphanet Journal of Rare Diseases.
A. Roubertie,
D. Bessis,
L. Vergely,
2017,
Journal of the American Academy of Dermatology.
B. Drénou,
S. Coutant,
N. Elçioglu,
2021,
Journal of Medical Genetics.
F. Rivier,
C. Depienne,
P. Berquin,
2011,
Human mutation.
E. Thouvenot,
A. Bonafe,
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2012,
Neuroradiology.
L. Lagae,
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American journal of medical genetics. Part A.
A. Vanderver,
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B. Gener,
2013,
The Lancet Neurology.
L. Cif,
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2018,
Journal of the Neurological Sciences.
G. Lenaers,
C. Hamel,
C. Delettre,
2016,
Ophthalmology.
H. Mandel,
P. Sedgwick,
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Journal of clinical medicine.
M. Patterson,
B. Bembi,
T. Symonds,
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Orphanet Journal of Rare Diseases.
V. Fraix,
L. Kremer,
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Genetics in Medicine.
M. Polak,
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Journal of Medical Genetics.
B. Echenne,
N. Nagot,
E. Tournier-Lasserve,
2019,
Developmental medicine and child neurology.
N. Nagot,
E. Tournier-Lasserve,
A. Roubertie,
2018,
Developmental medicine and child neurology.
M. Patterson,
B. Bembi,
T. Symonds,
2021,
Orphanet Journal of Rare Diseases.
A. Vanderver,
Y. Crow,
Naoki Kitabayashi,
2017,
Neuropediatrics.
A. Vanderver,
Y. Crow,
Naoki Kitabayashi,
2017,
Neuropediatrics.
F. Rivier,
B. Echenne,
E. Tournier-Lasserve,
2008,
Journal of Neurology.
D. Ruge,
L. Cif,
P. Coubes,
2018,
Movement disorders : official journal of the Movement Disorder Society.
A. Destée,
F. Rousset,
Y. Agid,
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Neurogenetics.
B. Echenne,
N. Blau,
B. Thöny,
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T. Dörk,
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B. Echenne,
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Ethan M. Goldberg,
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Silvana,
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Frontiers in Pediatrics.
A. Afenjar,
N. Philip,
D. Ville,
2015,
Epilepsia.
F. Rivier,
B. Echenne,
A. Roubertie,
2011,
Cephalalgia : an international journal of headache.
A. Durr,
D. Devos,
C. Cazeneuve,
2020,
European journal of neurology.
N. Boddaert,
A. Kaminska,
J. Pedespan,
2015,
European journal of medical genetics.
J. Honnorat,
B. Echenne,
M. Milh,
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Movement disorders : official journal of the Movement Disorder Society.
Steven P. Miller,
D. Segal,
J. Volkmann,
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F. Rivier,
B. Echenne,
R. Horvath,
2018,
Neurology: Genetics.
P. Raynaud,
F. Rivier,
P. Meyer,
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Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
F. Viallet,
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2022,
Neurology.
S. Auvin,
R. Nabbout,
A. Kaminska,
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Brain : a journal of neurology.
F. Rivier,
B. Echenne,
A. Bonafe,
2012,
Neurology.
R. Nabbout,
D. Ville,
B. Desnous,
2022,
Epilepsia.
M. Vidailhet,
P. Labauge,
A. Roubertie,
2009,
Revue neurologique.
J. Leid,
V. Desquiret-Dumas,
Majida Charif,
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American journal of medical genetics. Part A.
F. Rivier,
B. Echenne,
A. Roubertie,
2001,
Epileptic disorders : international epilepsy journal with videotape.
Majida Charif,
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C. Goizet,
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Front. Genet..
P. Bénit,
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European Journal of Human Genetics.
B. Lorenz,
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American journal of human genetics.
Majida Charif,
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N. Leboucq,
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M. Picot,
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F. Rivier,
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F. Rivier,
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Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
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American journal of human genetics.
P. Brabet,
E. Sarzi,
I. Meunier,
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Genes.
F. Rivier,
B. Echenne,
A. Roubertie,
2003,
Epilepsia.
Ying-Hui Fu,
P. Berquin,
A. Hunter,
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Epileptic disorders : international epilepsy journal with videotape.
A. Green,
D. Bonthron,
E. Bertini,
2007,
American journal of human genetics.
S. Pinson,
B. Guillot,
A. Roubertie,
2013,
Journal of the American Academy of Dermatology.
P. de Lonlay,
G. Touati,
A. Brassier,
2021,
Journal of inherited metabolic disease.
M. Vidailhet,
N. Boddaert,
D. Devos,
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Movement disorders : official journal of the Movement Disorder Society.
N. Boddaert,
S. Pannier,
D. Lacombe,
2022,
Bone Marrow Transplantation.
L. Cif,
P. Coubes,
T. Roujeau,
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Molecular genetics and metabolism.
A. Toutain,
J. Rivière,
J. Thevenon,
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American journal of human genetics.
C. Béroud,
M. Claustres,
A. Blanchard,
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H. Wilhelm,
D. Goudenège,
Majida Charif,
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The Journal of clinical investigation.
Kelly A. Mills,
Elizabeth L. Fieg,
M. Hallett,
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Brain : a journal of neurology.
Anne de Saint Martin,
A. Toutain,
J. Rivière,
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G. Ahle,
I. Meunier,
A. Roubertie,
2020,
Journal of Neurology, Neurosurgery, and Psychiatry.
C. Garel,
A. Afenjar,
A. Toutain,
2018,
Genetics in Medicine.
A. Pagnamenta,
R. Borgatti,
H. Firth,
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Genetics in Medicine.
Steven P. Miller,
A. Ziegler,
D. Segal,
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Brain : a journal of neurology.
D. Segal,
J. Lipton,
M. Sahin,
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Human molecular genetics.
C. Bonnet,
V. Cochen de Cock,
E. Roze,
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Movement disorders : official journal of the Movement Disorder Society.
D. Valle,
D. Campion,
A. Afenjar,
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Human mutation.
F. Rivier,
B. Echenne,
A. Roubertie,
2001,
Journal of child neurology.
M. Jaatun,
K. Katanyuwong,
P. Kwan,
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Epilepsia open.
M. Jaatun,
K. Katanyuwong,
E. Pataraia,
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Orphanet Journal of Rare Diseases.
F. Rivier,
B. Echenne,
A. Roubertie,
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European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
Ethan M. Goldberg,
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medRxiv.
F. Rivier,
N. Leboucq,
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Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
P. Genton,
A. Roubertie,
Y. Inoue,
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Epileptic disorders : international epilepsy journal with videotape.
R. Schiffmann,
R. Valabrègue,
L. Servais,
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Journal of Neurology, Neurosurgery & Psychiatry.
N. Leboucq,
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Neuropediatrics.
C. Marelli,
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Life.
B. Echenne,
A. Roubertie,
H. Bellet,
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Neurology.
J. Cross,
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Jacqueline A Palace,
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S. Hemm,
N. Vayssiere,
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F. Wendling,
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Epilepsia.
P. Genton,
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J. Petit,
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Revue neurologique.
M. Patterson,
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Brain : a journal of neurology.
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Movement disorders : official journal of the Movement Disorder Society.
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JIMD Reports.
F. Rivier,
B. Echenne,
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Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
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Mitochondrion.
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Human molecular genetics.
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Neurology.
Y. Crow,
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N. Boddaert,
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The New England journal of medicine.
N. Boddaert,
J. Chelly,
I. Desguerre,
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European journal of medical genetics.
F. Rivier,
B. Echenne,
A. Roubertie,
2005,
Revue neurologique (Paris).
A. Munnich,
G. Lenaers,
N. Leboucq,
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European journal of neurology.
C. Buresi,
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An overview of L‐2‐hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study
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Genetics in Medicine.
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Orphanet Journal of Rare Diseases.
F. Rivier,
B. Echenne,
A. Roubertie,
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European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
F. Rivier,
B. Echenne,
A. Roubertie,
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Brain and Development.
E. Roze,
E. Fernández-Álvarez,
A. Roubertie,
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European journal of neurology.
A. Bentivoglio,
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N. Nardocci,
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Movement disorders : official journal of the Movement Disorder Society.
B. Echenne,
E. Roze,
N. Bahi-Buisson,
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Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
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Neuropediatrics.
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Human mutation.
Christophe Béroud,
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Movement disorders : official journal of the Movement Disorder Society.
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Brain and Development.
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Genetics in Medicine.
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EMBO molecular medicine.
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Multiple sclerosis.
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Epileptic disorders : international epilepsy journal with videotape.
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Movement disorders : official journal of the Movement Disorder Society.
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N. Vayssiere,
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Neuro-Chirurgie.
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European journal of neurology.
F. Giuliano,
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Clinical genetics.
B. Echenne,
G. Lefort,
A. Roubertie,
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Pediatric neurology.
M. Vidailhet,
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Movement disorders clinical practice.
A. Malafosse,
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Archives de pédiatrie.
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Movement disorders : official journal of the Movement Disorder Society.
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Movement disorders clinical practice.
L. Christa,
C. Corne,
M. Milh,
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JIMD reports.
F. Rivier,
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N. Leboucq,
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Annals of clinical and translational neurology.
B. Echenne,
S. Tuffery-Giraud,
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Journal of medical genetics.
A. Munnich,
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Annals of clinical and translational neurology.
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European Journal of Human Genetics.
E. Thouvenot,
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