B. Chabrol
发表
M. Milh,
N. Villeneuve,
A. Pop,
2012,
Molecular genetics and metabolism.
R. Finkel,
E. Bertini,
S. Peltz,
2017,
The Lancet.
F. Sedel,
P. Latour,
H. Maurey,
2012,
Orphanet Journal of Rare Diseases.
J. Armstrong,
A. Roche,
J. Nectoux,
2009,
Journal of Medical Genetics.
C. Richelme,
E. Ostergaard,
A. Chaussenot,
2010,
Journal of Medical Genetics.
F. Rivier,
F. Chapon,
C. Richelme,
2019,
Orphanet Journal of Rare Diseases.
C. Assaiante,
F. Cignetti,
M. Vaugoyeau,
2018,
Research in developmental disabilities.
J. Tolmie,
E. Tobias,
B. Gener,
2010,
Human mutation.
J. Sarles,
B. Chabrol,
M. Roussey,
2014,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
D. Figarella-Branger,
J. Pouget,
A. Beaufrère,
2001,
Neuromuscular Disorders.
C. Assaiante,
B. Chabrol,
2010,
Revue neurologique.
G. Gorincour,
E. Bosdure,
J. Dubus,
2017,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
L. Vercueil,
A. Afenjar,
S. Auvin,
2013,
Orphanet Journal of Rare Diseases.
B. Drénou,
S. Coutant,
N. Elçioglu,
2021,
Journal of Medical Genetics.
R. Delorme,
F. Rivier,
A. Afenjar,
2013,
Molecular genetics and metabolism.
N. Philip,
M. Rolland,
P. Divry,
1993,
Pediatric neurology.
H. Jinnah,
B. Aral,
B. Chabrol,
2013,
Molecular genetics and metabolism.
E. Bosdure,
J. Dubus,
B. Chabrol,
2022,
Respiratory medicine case reports.
A. Kaminska,
L. Villard,
M. Milh,
2011,
Epilepsia.
E. Guedj,
E. Bosdure,
B. Chabrol,
2021,
European Journal of Nuclear Medicine and Molecular Imaging.
G. Matthijs,
J. Creemers,
A. Cano,
2008,
Journal of Medical Genetics.
C. Ovaert,
A. Cano,
B. Chabrol,
2007,
American journal of medical genetics. Part A.
V. Fraix,
L. Kremer,
M. Koenig,
2021,
Genetics in Medicine.
J. J. Padilla,
C. Palermo,
M. Pane,
2018,
Neuromuscular Disorders.
M. Polak,
N. Boddaert,
A. Brice,
2017,
Journal of Medical Genetics.
A. Munnich,
D. Galanaud,
N. Boddaert,
2010,
Journal of Medical Genetics.
J. Gracies,
A. Merlo,
B. Chabrol,
2018,
BioMed research international.
B. Chabrol,
B. Héron,
V. Valayannopoulos,
2015,
Orphanet Journal of Rare Diseases.
S. Confort-Gouny,
P. Cozzone,
F. Nicoli,
2002,
Pediatric Research.
I. Durieu,
B. Hivert,
J. Stirnemann,
2020,
Journal of clinical medicine.
N. Philip,
N. Girard,
H. Sobol,
2015,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
E. Guedj,
M. Milh,
S. Lagarde,
2016,
Brain and Development.
A. Destée,
F. Rousset,
Y. Agid,
2008,
Neurogenetics.
Michael K. Hutchinson,
M. Vidailhet,
D. Grabli,
2009
.
Michael K. Hutchinson,
M. Vidailhet,
D. Grabli,
2009,
Brain : a journal of neurology.
J. Rilstone,
C. Ackerley,
I. Nishino,
2013,
Acta Neuropathologica.
A. Slama,
A. Cano,
B. Chabrol,
2020,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
M. Baumgartner,
D. Rizopoulos,
Y. Chien,
2019,
Molecular genetics and metabolism.
D. Galanaud,
F. Sedel,
T. Burzykowski,
2016,
Journal of Neurology.
A. Chaussenot,
S. Bannwarth,
A. Cano,
2011,
Mitochondrion.
D. Figarella-Branger,
B. Chabrol,
J. Mancini,
2008,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
M. Tuchman,
M. Baumgartner,
S. Waisbren,
2020,
Scientific Reports.
C. Ovaert,
A. Cano,
B. Chabrol,
2007,
Pediatric Cardiology.
A. Rötig,
I. Durand-zaleski,
C. Florentz,
2013,
Journal of Medical Genetics.
J. Azulay,
J. Pouget,
B. Chabrol,
2004,
Neurology.
A. Afenjar,
N. Philip,
D. Ville,
2015,
Epilepsia.
B. Chabrol,
S. Attarian,
F. Audic,
2018,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
S. Lamoureux,
N. Girard,
B. Chabrol,
1997,
Journal of child neurology.
J. Sarles,
B. Chabrol,
M. Tsimaratos,
2006,
Pediatric Nephrology.
J. Desvignes,
N. Lévy,
T. Stojkovic,
2018,
BMJ Open.
F. Baas,
A. Starr,
D. Gresham,
2000,
Neuromuscular Disorders.
J. Sarles,
B. Chabrol,
M. Tsimaratos,
2006,
Journal of Inherited Metabolic Disease.
N. Philip,
N. Girard,
B. Chabrol,
2017,
Clinical dysmorphology.
F. Rivier,
C. Richelme,
G. Bassez,
2019,
Neurology.
E. Bosdure,
J. Dubus,
B. Chabrol,
2012,
The Journal of pediatrics.
N. Philip,
L. Villard,
A. Moncla,
2007,
Human mutation.
M. Claustres,
Jian-Min Chen,
F. Baudat,
2013,
Human mutation.
M. Popoff,
B. Chabrol,
E. Bérard,
2018,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
M. Baumgartner,
B. Seifert,
H. Blom,
2018,
Journal of Inherited Metabolic Disease.
J. Vion-Dury,
A. Salvan,
S. Confort-Gouny,
1999,
Journal of neurology, neurosurgery, and psychiatry.
V. Procaccio,
B. Delobel,
P. Lecomte,
2007,
American journal of medical genetics. Part A.
N. Girard,
M. Milh,
N. Villeneuve,
2010,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
G. Matthijs,
J. Creemers,
A. Cano,
2009,
BMJ Case Reports.
P. Auquier,
N. Resseguier,
P. de Lonlay,
2022,
The Journal of pediatrics.
E. Mercuri,
F. Muntoni,
F. Rivier,
2017,
The Lancet Neurology.
D. Rizopoulos,
T. Mongini,
M. Kruijshaar,
2021,
The Lancet. Child & adolescent health.
M. Milh,
B. Chabrol,
J. Boucraut,
2012,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
B. Byrne,
H. Mandel,
N. Leslie,
2009,
Genetics in Medicine.
N. Lévy,
M. Milh,
C. Ovaert,
2016,
Brain and Development.
B. Chabrol,
S. Attarian,
E. Delmont,
2021,
Muscle & nerve.
C. Richelme,
P. Sabouraud,
S. Quijano-roy,
2020,
Orphanet Journal of Rare Diseases.
S. Quijano-roy,
C. Barnérias,
I. Desguerre,
2022,
Neurology.
A. Chaussenot,
S. Bannwarth,
B. Chabrol,
2019,
Molecular genetics and metabolism reports.
A. Chaussenot,
S. Bannwarth,
B. Chabrol,
2017,
Molecular genetics and metabolism.
A. Chaussenot,
S. Bannwarth,
A. M. Paula,
2016,
Neuromuscular Disorders.
N. Philip,
J. Rankin,
F. Giuliano,
2008,
Human mutation.
J. Vion-Dury,
S. Confort-Gouny,
P. Cozzone,
1994
.
N. Girard,
P. Dory-Lautrec,
B. Chabrol,
2016,
Pediatric Radiology.
N. Philip,
B. Chabrol,
S. Sigaudy,
1997,
American journal of medical genetics.
E. Bosdure,
N. Néant,
G. Léonetti,
2020,
Drug testing and analysis.
S. Auvin,
I. Desguerre,
A. Cano,
2020,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
M. Baumgartner,
E. Rodrigues,
C. Ortez,
2015,
Journal of Inherited Metabolic Disease.
N. Philip,
B. Chabrol,
M. Longy,
2013,
Gene.
J. Pépin,
F. Rivier,
C. Béroud,
2013,
Revue neurologique (Paris).
H. Dollfus,
A. Chaussenot,
M. Nicolino,
2015,
Clinical genetics.
J. Sarles,
H. Nivet,
B. Chabrol,
2000,
Pediatric Nephrology.
R. Porcher,
D. Annane,
P. Ravaud,
2021,
European heart journal.
A. McGonigal,
M. Milh,
D. Sternberg,
2013,
Pediatrics.
B. Andresen,
P. Laforêt,
B. Eymard,
2009,
Neuromuscular Disorders.
A. Cano,
B. Chabrol,
H. Mansour,
2007,
Presse medicale.
G. Matthijs,
R. Wevers,
C. Thiel,
2016,
Journal of Inherited Metabolic Disease.
B. Chabrol,
J. Décarie,
G. Fortin,
1999,
Child abuse & neglect.
N. Philip,
W. Dobyns,
R. Guerrini,
2003,
Journal of medical genetics.
B. Chabrol,
2013,
Bulletin de l'Academie nationale de medecine.
M. Milh,
B. Chabrol,
2019,
Revue neurologique.
G. Chatellier,
N. Belmatoug,
A. Brassier,
2021,
Orphanet Journal of Rare Diseases.
Christina Lam,
C. Ferreira,
A. Freeman,
2021,
Genetics in Medicine.
M. Baumgartner,
B. Seifert,
H. Blom,
2019,
Journal of inherited metabolic disease.
A. Munnich,
P. Rustin,
B. Chabrol,
1994,
European Journal of Pediatrics.
R. Lachmann,
A. Servais,
P. de Lonlay,
2022,
Journal of inherited metabolic disease.
M. Vidailhet,
N. Boddaert,
D. Devos,
2008,
Movement disorders : official journal of the Movement Disorder Society.
E. Bosdure,
J. Dubus,
B. Chabrol,
2008,
Archives de pédiatrie.
T. Clozel,
J. Casanova,
F. Rivier,
2010,
The Journal of pediatrics.
N. Boddaert,
S. Pannier,
D. Lacombe,
2022,
Bone Marrow Transplantation.
M. Hully,
S. Peudenier,
M. Milh,
2021,
Archives de Pédiatrie.
P. Rustin,
C. Lacroix,
I. Desguerre,
2003,
AIDS.
C. Elie,
P. de Lonlay,
A. Brassier,
2016,
Orphanet Journal of Rare Diseases.
D. Figarella-Branger,
J. Pouget,
M. Krahn,
2006,
Neurology.
M. Baumgartner,
J. Zeman,
S. Kölker,
2016,
Journal of Inherited Metabolic Disease.
M. Baumgartner,
J. Zeman,
S. Kölker,
2016,
Journal of Inherited Metabolic Disease.
M. Baumgartner,
R. Lachmann,
E. Rodrigues,
2015,
Journal of Inherited Metabolic Disease.
J. Vion-Dury,
S. Confort-Gouny,
P. Cozzone,
1993,
Pediatric neurology.
F. Benfenati,
F. Zara,
R. Nabbout,
2013,
Human mutation.
V. Laguitton,
M. Milh,
N. Villeneuve,
2014,
Epilepsy & Behavior.
L. Villard,
A. Moncla,
B. Chabrol,
2010,
European Journal of Human Genetics.
A. Need,
A. Pagnamenta,
M. Bleda,
2021,
Genetics in Medicine.
A. Munnich,
M. Koenig,
C. Yalçınkaya,
2003,
Human mutation.
J. Pouget,
V. Procaccio,
A. Chaussenot,
2012,
Brain : a journal of neurology.
S. Julia,
N. Philip,
M. Till,
2015,
Clinical genetics.
I. Scheffer,
E. Bertini,
R. Guerrini,
2009,
Neurology.
B. Weschke,
M. Verbeek,
G. Mancini,
2010,
Brain : a journal of neurology.
C. Béroud,
J. Desvignes,
M. Krahn,
2019,
Journal of Human Genetics.
B. Schulman,
H. Houlden,
B. Rautenstrauss,
2014,
Acta neuropathologica communications.
N. Philip,
N. Lévy,
M. Bartoli,
2020,
Molecular genetics & genomic medicine.
N. Drouot,
A. Durr,
L. Schöls,
2009,
Brain : a journal of neurology.
A. Munnich,
E. Schaftingen,
G. Matthijs,
2001,
Journal of medical genetics.
N. Girard,
L. Villard,
M. Milh,
2020,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
B. Minassian,
C. Caillaud,
B. Chabrol,
2013,
Handbook of clinical neurology.
S. A. E. Mkadem,
A. Chaussenot,
B. Vialettes,
2011,
Annals of neurology.
B. Chabrol,
C. Hugonenq,
J. Mancini,
2001,
Developmental medicine and child neurology.
N. Girard,
N. Resseguier,
E. Bosdure,
2019,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
S. Tardieu,
E. Bosdure,
J. Dubus,
2016,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
K. Baumstarck,
A. Loundou,
P. Auquier,
2013,
Health and Quality of Life Outcomes.
N. Philip,
N. Girard,
L. Villard,
2009,
Journal of Medical Genetics.
J. Pépin,
F. Rivier,
C. Béroud,
2012,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
M. Drancourt,
E. Bosdure,
B. Chabrol,
2012,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
H. Chambost,
B. Chabrol,
G. Michel,
2002,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
A. Munnich,
D. Figarella-Branger,
S. Küry,
2015,
Orphanet Journal of Rare Diseases.
E. Génin,
J. Pouget,
M. Soriani,
2015,
Annals of neurology.
E. Génin,
J. Pouget,
A. Chaussenot,
2015
.
P. de Lonlay,
A. Cano,
B. Chabrol,
2020,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
P. van Endert,
M. Polak,
N. Boddaert,
2020,
Journal of inherited metabolic disease.
N. Boddaert,
G. Mollet,
O. Gribouval,
2014,
American Journal of Human Genetics.
L. Villard,
F. Molinari,
S. Gorokhova,
2023,
Journal of Medical Genetics.
R. Finkel,
A. Pestronk,
E. Mazzone,
2019,
Journal of Pharmacokinetics and Pharmacodynamics.
N. Philip,
B. Chabrol,
S. Sigaudy,
1996,
American journal of medical genetics.
C. Barnérias,
I. Desguerre,
B. Chabrol,
2018,
Muscle & nerve.
B. Chabrol,
F. Dignat-George,
L. Camoin-Jau,
2000,
Thrombosis and Haemostasis.
G. Bollini,
J. Pélissier,
B. Chabrol,
2014,
Anatomy research international.
P. de Lonlay,
D. Cheillan,
G. Briand,
2012,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
B. Chabrol,
T. Dufour,
J. Mancini,
1994,
Journal of neurosurgery.
D. Zafeiriou,
O. Danos,
M. Tardieu,
2011,
American journal of medical genetics. Part A.
S. Lamoureux,
N. Girard,
M. Milh,
2009,
Journal of child neurology.
B. Chabrol,
N. Pinsard,
J. Mancini,
1996,
European Journal of Pediatrics.
S. Tardieu,
M. Milh,
B. Chabrol,
2020,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
D. Figarella-Branger,
R. Froissart,
A. D. de Paula,
2009,
Muscle & nerve.
E. Génin,
H. Lochmüller,
J. Pouget,
2008,
Neurology.
E. Génin,
J. Pouget,
A. Barois,
2008
.
N. Philip,
P. Divry,
B. Chabrol,
2001,
Journal of Inherited Metabolic Disease.
A. Afenjar,
D. Sternberg,
S. Chantot-Bastaraud,
2018,
American journal of medical genetics. Part A.
F. Rivier,
C. Béroud,
F. Chapon,
2022,
Orphanet Journal of Rare Diseases.
F. Giuliano,
B. Delobel,
B. Vialettes,
2005,
Human mutation.
E. Bosdure,
J. Dubus,
P. Colson,
2021,
Acta paediatrica.
C. Richelme,
J. Pouget,
A. Chaussenot,
2013,
European Journal of Human Genetics.
J. Gracies,
M. Sangeux,
A. Merlo,
2023,
Pediatric neurology.
G. Bollini,
V. Pomero,
B. Chabrol,
2015,
Annals of physical and rehabilitation medicine.
L. Villard,
M. Milh,
N. Villeneuve,
2017,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
Lee-Jen Wei,
G. Comi,
R. Finkel,
2020,
Journal of comparative effectiveness research.
R. Delorme,
F. Rivier,
A. Afenjar,
2012,
Orphanet Journal of Rare Diseases.
J. Ranjeva,
S. Confort-Gouny,
P. Cozzone,
2002,
AJNR. American journal of neuroradiology.
C. Schmitz,
C. Assaiante,
L. Centelles,
2010,
Developmental medicine and child neurology.
M. Gavaret,
N. Girard,
M. Milh,
2011,
Brain and Development.
D. Figarella-Branger,
N. Lévy,
J. Chelly,
2000,
European Journal of Human Genetics.
M. Baumgartner,
R. Lachmann,
E. Rodrigues,
2015,
Journal of Inherited Metabolic Disease.
An overview of L‐2‐hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study
D. Zafeiriou,
J. Celli,
J. D. den Dunnen,
2010,
Human mutation.
J. Rilstone,
C. Ackerley,
I. Nishino,
2009,
Cell.
J. Rilstone,
C. Ackerley,
I. Nishino,
2009
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G. Bollini,
V. Pomero,
B. Chabrol,
2014,
Annals of physical and rehabilitation medicine.
G. Bollini,
V. Pomero,
B. Chabrol,
2012
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C. Schmitz,
C. Assaiante,
E. Bosdure,
2006,
Neuroscience Letters.
J. Vion-Dury,
A. Salvan,
S. Confort-Gouny,
1999,
Pediatric Radiology.
C. Desnuelle,
B. Chabrol,
J. Camboulives,
1995,
European Journal of Pediatrics.
E. Chouery,
A. Mégarbané,
N. Lévy,
2011,
neurogenetics.
P. Auquier,
N. Resseguier,
P. de Lonlay,
2021,
The Journal of pediatrics.
D. Wallace,
J. Gargus,
P. Calvas,
2008,
Mitochondrion.
F. Chapon,
J. Pouget,
A. Echaniz-Laguna,
2011
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C. Béroud,
J. Desvignes,
N. Lévy,
2019,
Journal of Human Genetics.
B. Chabrol,
A. Fabre,
A. Carsin,
2016,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
M. Mayer,
B. Estournet,
P. Sabouraud,
2014,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
F. Rivier,
P. Sabouraud,
C. Barnérias,
2020,
Frontiers in Pediatrics.
P. Auquier,
N. Resseguier,
P. de Lonlay,
2020,
Jornal de Pediatria.
A. Munnich,
B. Chabrol,
C. Benelli,
1994,
Journal of child neurology.
P. Laforêt,
R. Froissart,
B. Chabrol,
2020,
Molecular genetics and metabolism reports.
A. Salvan,
P. Cozzone,
B. Chabrol,
1999,
Magnetic resonance in medicine.
B. Chabrol,
C. Raybaud,
2002
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E. Bosdure,
B. Chabrol,
S. Attarian,
2006,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
A. Cano,
B. Chabrol,
L. Paermentier,
2023,
Developmental neuropsychology.
C. Raybaud,
J. Garnier,
B. Chabrol,
1997,
Journal of child neurology.
J. Sarles,
B. Chabrol,
M. Schiff,
2012,
Journal of Inherited Metabolic Disease.
A. Need,
C. Tregidgo,
J. Clayton-Smith,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
J. Melki,
M. Cossée,
J. Pouget,
2018,
European Journal of Human Genetics.
G. Bollini,
V. Pomero,
B. Chabrol,
2012,
Gait & posture.
P. Latour,
T. Levade,
A. Brassier,
2017,
Orphanet Journal of Rare Diseases.
B. Eymard,
F. Bouhour,
P. Richard,
2010,
Journal of Medical Genetics.
B. Chabrol,
C. Hugonenq,
L. Fayol,
2005,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
N. Philip,
N. Girard,
M. Carlier,
2005,
American journal of medical genetics. Part A.
N. Girard,
M. Milh,
A. Cano,
2014,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
I. Desguerre,
B. Chabrol,
2020,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
F. Mochel,
P. Jacquin,
N. Belmatoug,
2018,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
F. Rivier,
J. Lefranc,
G. Touati,
2023,
European journal of neurology.
J. Vion-Dury,
S. Confort-Gouny,
P. Cozzone,
1995,
Neuroradiology.
E. Mercuri,
F. Muntoni,
F. Rivier,
2014,
Neuromuscular Disorders.
P. Fergelot,
G. Stevanin,
B. Desnous,
2023,
Movement disorders : official journal of the Movement Disorder Society.
A. Munnich,
D. Bonneau,
L. Viollet,
2004,
European Journal of Human Genetics.
G. Touati,
A. Brassier,
A. Cano,
2017,
Journal of Inherited Metabolic Disease.
B. Chabrol,
A. Cano,
B. Chabrol,
2008,
Revue neurologique.
D. Raoult,
P. Fournier,
F. Cadoret,
2016,
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