D. Doummar
发表
C. Flamant,
S. Renolleau,
J. Guilbert,
2007,
Emergency Medicine Journal.
S. Sisodiya,
J. Cross,
A. Basu,
2021,
Neurology.
G. Carvill,
H. Mefford,
P. Striano,
2018,
Epilepsia.
N. Chémaly,
A. Macaya,
G. Barcia,
2020
.
N. Boddaert,
S. Auvin,
R. Nabbout,
2019,
Neurology: Genetics.
Colin A. Johnson,
M. Huynen,
D. Birnbaum,
2017,
Journal of Medical Genetics.
T. Billette de Villemeur,
F. Moussa,
D. Doummar,
2015,
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.
Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.
S. Nevsimalova,
P. Sabouraud,
V. Laugel,
2019,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
C. Depienne,
C. Richelme,
A. Kaminska,
2018,
Brain and Development.
M. Vidailhet,
B. Fontaine,
E. Roze,
2013,
Movement disorders : official journal of the Movement Disorder Society.
S. Clemenceau,
O. Delattre,
C. Pouponnot,
2019,
Acta Neuropathologica.
I. Scheffer,
H. Mefford,
A. Munnich,
2019,
Human mutation.
Daniela C. Zarnescu,
J. Gécz,
J. Vincent,
2020,
Nature Genetics.
F. Alkuraya,
P. Josset,
E. Faqeih,
2016,
Orphanet Journal of Rare Diseases.
M. Vidailhet,
D. Galanaud,
Kunihiro Yoshida,
2005,
Movement disorders : official journal of the Movement Disorder Society.
N. Drouot,
P. Burbaud,
L. Cif,
2020,
Parkinsonism & related disorders.
L. Cif,
P. Coubes,
C. Béroud,
2018,
Journal of the Neurological Sciences.
Kiely N. James,
D. Horn,
T. Wieland,
2018,
Human Genetics.
A. V. Vulto-van Silfhout,
S. Antonarakis,
B. Asselbergh,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
M. Leboyer,
C. Depienne,
A. Brice,
2013,
European Journal of Human Genetics.
P. Calvas,
N. Chassaing,
F. Malecaze,
2009,
Clinical genetics.
L. Cuisset,
L. E. El Khattabi,
D. Le Tessier,
2014,
American journal of medical genetics. Part A.
Nikita R. Dsouza,
Magalie S Leduc,
J. Graham,
2022,
Genome Medicine.
P. Kind,
J. Hentschel,
D. Mitter,
2018,
Brain : a journal of neurology.
D. Cohen,
J. Xavier,
S. Chantot-Bastaraud,
2017,
Case reports in psychiatry.
C. Garel,
C. Depienne,
A. Afenjar,
2016,
Brain : a journal of neurology.
Michael K. Hutchinson,
M. Vidailhet,
D. Grabli,
2009
.
Michael K. Hutchinson,
M. Vidailhet,
D. Grabli,
2009,
Brain : a journal of neurology.
N. Drouot,
V. Czernecki,
T. Frebourg,
2010,
American journal of medical genetics. Part A.
A. Afenjar,
D. Rodriguez,
T. Billette de Villemeur,
2020,
Neurology: Genetics.
T. Dörk,
M. Stern,
P. Calvas,
2019,
Human mutation.
E. Bertini,
A. Vanderver,
M. Elmaleh,
2017,
Brain : a journal of neurology.
F. Zoulim,
T. Fontanges,
F. Gottrand,
2014,
Journal of hepatology.
Alain,
Lachaux,
F. Zoulim,
2014
.
B. Echenne,
C. Korff,
N. Leboucq,
2015,
Journal of Neurology, Neurosurgery & Psychiatry.
M. Vidailhet,
P. Burbaud,
D. Grabli,
2012,
Neurology.
R. Nabbout,
P. van Bogaert,
M. Gibaud,
2021,
Frontiers in Pediatrics.
K. Heimdal,
I. Touitou,
D. Rodriguez,
2018,
European Journal of Human Genetics.
Anne de Saint Martin,
N. Burnashev,
T. Tsintsadze,
2013,
Nature Genetics.
S. Julia,
A. Afenjar,
O. Dulac,
2019,
Epilepsia.
E. Roze,
T. Billette de Villemeur,
D. Doummar,
2014,
JIMD reports.
B. Cogné,
A. Piton,
L. Villard,
2021,
Journal of Medical Genetics.
N. Boddaert,
A. Kaminska,
J. Pedespan,
2015,
European journal of medical genetics.
J. Rosenfeld,
F. Alkuraya,
A. Afenjar,
2019,
American journal of human genetics.
S. Rossi,
L. Defebvre,
M. Vidailhet,
2014,
Neurology.
M. Vidailhet,
P. Labauge,
A. Roubertie,
2009,
Revue neurologique.
P. Amati‐Bonneau,
P. Reynier,
D. Rodriguez,
2012,
Brain : a journal of neurology.
R. Touraine,
A. Toutain,
N. Chassaing,
2021,
Clinical genetics.
A. Afenjar,
S. Chantot-Bastaraud,
J. Siffroi,
2015,
European journal of medical genetics.
C. Mignot,
D. Doummar,
I. Maire,
2006,
Brain and Development.
J. Stoler,
C. Garel,
C. Depienne,
2017,
Human Genetics.
A. Clément,
R. Borie,
D. Doummar,
2016,
Respiration.
Marie-Christine Nouguès,
M. Louha,
T. Billette de Villemeur,
2018,
Revue neurologique.
R. Vialle,
D. Doummar,
M. Bachy,
2012,
Child's Nervous System.
Colin A. Johnson,
M. Huynen,
S. Saunier,
2015,
Nature Cell Biology.
L. Lagae,
P. Striano,
T. Loddenkemper,
2017,
Brain : a journal of neurology.
L. Lagae,
P. Striano,
T. Loddenkemper,
2017
.
B. Echenne,
S. Auvin,
N. Dorison,
2014,
Human mutation.
E. Roze,
T. Billette de Villemeur,
F. Moussa,
2014,
ACS chemical neuroscience.
E. Roze,
T. Billette de Villemeur,
F. Moussa,
2017,
ACS omega.
M. Ruberg,
V. Guillemot,
C. Depienne,
2015,
Amino Acids.
N. Drouot,
M. Vidailhet,
L. Cif,
2022,
Movement disorders : official journal of the Movement Disorder Society.
W. Chung,
A. Munnich,
B. Menten,
2021,
Human Genetics.
E. Eichler,
O. Korvatska,
M. Dorschner,
2015,
Neurology.
I. Scheffer,
D. Goldstein,
S. Sisodiya,
2015,
Orphanet Journal of Rare Diseases.
C. Depienne,
A. Afenjar,
D. Cohen,
2018,
Clinical genetics.
C. Depienne,
A. Afenjar,
D. Cohen,
2017
.
Kelly A. Mills,
Elizabeth L. Fieg,
M. Hallett,
2020,
Brain : a journal of neurology.
L. Cif,
Jean-Pierre Lin,
A. Piton,
2022,
Movement disorders : official journal of the Movement Disorder Society.
C. Garel,
A. Afenjar,
A. Toutain,
2018,
Genetics in Medicine.
Martin A. M. Reijns,
Y. Crow,
H. Van Esch,
2020,
Nature Genetics.
J. Rosenfeld,
I. Scheffer,
J. Gécz,
2016,
Neurology.
J. Rosenfeld,
A. Pagnamenta,
P. Verstreken,
2022
.
D. Rodriguez,
L. Villard,
E. Apartis,
2015,
Movement disorders : official journal of the Movement Disorder Society.
C. Bonnet,
V. Cochen de Cock,
E. Roze,
2010,
Movement disorders : official journal of the Movement Disorder Society.
D. Campion,
A. Afenjar,
D. Rodriguez,
2007,
Brain and Development.
K. Heimdal,
I. Touitou,
D. Rodriguez,
2018,
European Journal of Human Genetics.
L. Vissers,
R. Pfundt,
R. Pettinato,
2019,
European Journal of Human Genetics.
L. Gallagher,
E. Haffen,
C. Depienne,
2012,
Journal of Medical Genetics.
J. Stoler,
C. Garel,
C. Depienne,
2017,
Human Genetics.
I. Scheffer,
H. Mefford,
A. Munnich,
2020,
Epilepsia.
M. Vidailhet,
A. Durr,
M. Polak,
2012,
Journal of Neurology, Neurosurgery & Psychiatry.
T. Billette de Villemeur,
D. Doummar,
P. Beauvais,
1999,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
M. Vidailhet,
N. Blau,
L. Møller,
2006,
Movement disorders : official journal of the Movement Disorder Society.
M. Vidailhet,
R. Levy,
V. Mesnage,
2011,
Journal of Inherited Metabolic Disease.
Anne de Saint Martin,
A. Afenjar,
P. Berquin,
2021,
Epilepsy & Behavior.
M. Vidailhet,
P. Damier,
L. Cif,
2022,
Movement disorders : official journal of the Movement Disorder Society.
M. Vidailhet,
V. Fraix,
I. Arnulf,
2019,
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine.
L. Vallée,
M. Bourgeois,
A. Arzimanoglou,
2020,
Neurology.
G. Alcaraz,
A. Afenjar,
L. Aniksztejn,
2015,
Neurobiology of Disease.
Infantile hypokinetic‐hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene
M. Vidailhet,
A. Durr,
A. Brice,
2009,
Movement Disorders.
Y. Crow,
Naoki Kitabayashi,
N. Boddaert,
2018,
The New England journal of medicine.
A. Singleton,
T. Rinne,
J. Christodoulou,
2018,
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.
A. Vanderver,
Y. Crow,
D. Lev,
2020,
Human mutation.
A. Munnich,
G. Lenaers,
N. Leboucq,
2022,
European journal of neurology.
N. Drouot,
L. Minotti,
P. Kahane,
2020,
European Journal of Human Genetics.
C. Garel,
B. Funalot,
F. Galactéros,
2021,
American journal of hematology.
L. Cif,
D. Devos,
F. Zimprich,
2021,
Annals of clinical and translational neurology.
C. Garel,
A. Afenjar,
A. Toutain,
2018,
Genetics in Medicine.
Ellen F. Macnamara,
Theodore G. Drivas,
J. Constantino,
2023,
Science advances.
K. Baumstarck,
A. Loundou,
P. Auquier,
2019,
Disability and health journal.
E. Roze,
E. Fernández-Álvarez,
A. Roubertie,
2012,
European journal of neurology.
B. Echenne,
E. Roze,
N. Bahi-Buisson,
2010,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
M. Sitbon,
O. Boespflug-Tanguy,
F. Mochel,
2023,
Neurology.
P. Leroy,
D. Doummar,
J. Misson,
2017
.
P. Leroy,
D. Doummar,
J. Misson,
2017,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
Z. Tümer,
A. Afenjar,
R. Møller,
2021,
Clinical genetics.
J. Daire,
M. Schiff,
D. Doummar,
2021,
American Journal of Neuroradiology.
Kiely N. James,
D. Horn,
T. Wieland,
2018,
Human Genetics.
G. Alcaraz,
A. Afenjar,
L. Aniksztejn,
2015
.
M. Iba-Zizen,
B. Roussat,
T. D. de Villemeur,
2004,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
Anne de Saint Martin,
I. Scheffer,
H. Mefford,
2019
.
A. Vanderver,
H. Brunner,
P. Fockens,
2019
.
M. Vidailhet,
S. Tezenas du Montcel,
J. Houeto,
2005,
Journal of Medical Genetics.
H. Corvol,
C. Mignot,
D. Doummar,
2021,
The Journal of pediatrics.
A. Durr,
A. Dürr,
A. Brice,
2008,
Neurology.
Andrew C. R. Martin,
C. T. Porter,
D. Lev,
2020
.
M. Vidailhet,
F. Mochel,
E. Roze,
2014,
Revue neurologique.
E. Cabanis,
P. Gohier,
J. Nordmann,
2001,
Journal francais d'ophtalmologie.
L. Lagae,
H. Lerche,
G. Rubboli,
2018
.
L. Cif,
A. Koy,
N. Dorison,
2024,
Frontiers in neurology.
L. Vissers,
R. Pfundt,
R. Pettinato,
2019,
European Journal of Human Genetics.
S. Clemenceau,
O. Delattre,
C. Pouponnot,
2019,
Acta Neuropathologica.