LEMAIRE J., PONTIER B., CHAIX R., EL OUADIH Y., KHALIL T., SINARDET D., ACHIM V., POSTELNICU A., COSTE J., GERMAIN V., SARRET C., SONTHEIMER A.
Neural correlates of consciousness and related disorders: from phenotypic descriptors of behavioral and relative consciousness to cortico-subcortical circuitry
neurochirurgie, vol. 68, p. 112--122
2022


MINET P., SARRET C., MIRET A., MENTION K., BENOIST J., REMERAND G.
Clinical and biochemical outcome of a patient with pyridoxine-dependent epilepsy treated by triple therapy (pyridoxine supplementation, lysine-restricted diet, and arginine supplementation)
Acta Neurologica Belgica, vol. 121, p. 1669
2021 oct 28


LAFONTAINE M., LIA A., BOURTHOUMIEU S., BEAUVAIS-DZUGAN H., DEROUAULT P., ARNÉ-BES M., SARRET C., LAFFARGUE F., MAGOT A., STURTZ F., MAGY L., MAGDELAINE C.
Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients
Annals of Clinical and Translational Neurology, vol. 8, p. 471
2021 jan 06


CARMIGNAC V., MIGNOT C., BLANCHARD E., KUENTZ P., AUBRIOT-LORTON M., E R PARKER V., SORLIN A., FRAITAG S., COURCET J., DUFFOURD Y., RODRIGUEZ D., G KNOX R., POLUBOTHU S., BOLAND A., OLASO R., DELEPINE M., DARMENCY V., RIACHI M., QUELIN C., ROLLIER P., GOUJON L., GROTTO S., CAPRI Y., JACQUEMONT M., ODENT S., AMRAM D., CHEVARIN M., VINCENT-DELORME C., CATTEAU B., GUIBAUD L., ARZIMANOGLOU A., KEDDAR M., SARRET C., CALLIER P., BESSIS D., GENEVIÈVE D., DELEUZE J., THAUVIN C., K SEMPLE R., PHILIPPE C., RIVIÈRE J., A KINSLER V., FAIVRE L., VABRES P.
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
Genetics in Medicine, vol. 23, p. 1484
2021


BOURDIER S., KHELIF N., VELASQUEZ M., USCLADE A., ROCHETTE E., PEREIRA B., FAVARD B., MERLIN E., LABBE A., SARRET C., MICHAUD E.
Cold vibration (buzzy) versus anesthetic patch (emla) for pain prevention during cannulation in children
pediatric emergency care, vol. 37, p. 86
2021


CARMIGNAC V., MIGNOT C., BLANCHARD E., KUENTZ P., AUBRIOT-LORTON M., E R PARKER V., SORLIN A., FRAITAG S., COURCET J., DUFFOURD Y., RODRIGUEZ D., G KNOX R., POLUBOTHU S., BOLAND A., OLASO R., DELEPINE M., DARMENCY V., RIACHI M., QUELIN C., ROLLIER P., GOUJON L., GROTTO S., CAPRI Y., JACQUEMONT M., ODENT S., AMRAM D., CHEVARIN M., VINCENT-DELORME C., CATTEAU B., GUIBAUD L., ARZIMANOGLOU A., KEDDAR M., SARRET C., CALLIER P., BESSIS D., GENEVIÈVE D., DELEUZE J., THAUVIN C., K SEMPLE R., PHILIPPE C., RIVIÈRE J., A KINSLER V., FAIVRE L., VABRES P.
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
Genetics in Medicine, vol. 23, p. 1585
2021


BENKIRANE M., MARELLI C., GUISSART C., ROUBERTIE A., OLLAGNON E., CHOUMERT A., FLUCHERE F., MAGNE F., HALLEB Y., RENAUD M., LARRIEU L., BAUX D., PATAT O., BOUSQUET I., RAVEL J., CUNTZ-SHADFAR D., SARRET C., AYRIGNAC X., ROLLAND A., MORALES R., POINTAUX M., LIEUTARD-HAAG C., LAURENS B., TILLIKETE C., BERNARD E., MALLARET M., CARRA-DALLIERE C., TRANCHANT C., MEYER P., DAMAJ L., PASQUIER L., ACQUAVIVA C., CHAUSSENOT A., ISIDOR B., NGUYEN K., CAMU W., EUSEBIO A., CARRIERE N., RIQUET A., THOUVENOT E., GONZALES V., CARME E., ATTARIAN S., ODENT S., CASTRIOTO A., EWENCZYK C., CHARLES P., KREMER L., SISSAOUI S., BAHI-BUISSON N., KAPHAN E., DEGARDIN A., DORAY B., JULIA S., REMERAND G., FRAIX V., HAIDAR L., LAZARO L., LAUGEL V., VILLEGA F., CHARLIN C., FRISMAND S., MOREIRA M., WITJAS T., FRANCANNET C., WALTHER-LOUVIER U., FRADIN M., CHABROL B., FLUSS J., BIETH E., CASTELNOVO G., VERGNET S., MEUNIER I., VERLOES A., BRISCHOUX-BOUCHER E., COUBES C., GENEVIEVE D., LEBOUC N., AZULAY J., ANHEIM M., GOIZET C., RIVIER F., LABAUGE P., CALVAS P., KOENIG M.
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families
genetics in medicine, vol. 23, p. 2160
2021


BONARDI C., O HEYNE H., FIANNACCA M., FITZGERALD M., GARDELLA E., GUNNING B., OLOFSSON K., LESCA G., VERBEEK N., STAMBERGER H., STRIANO P., ZARA F., MANCARDI M., NAVA C., SYRBE S., BUONO S., BAULAC S., COPOLA A., WECKHUYSEN S., SCHOONJANS A., CEULEMANS B., SARRET C., BAUMGARTHNER T., MUHLE H., DES PORTES V., TOULOUSE J., NOUGUES M., ROSSI M., DEMARQUAY G., VILLE D., HIRSCH E., MAUREY H., WILLEMS M., DE BELLESCIZE J., DESMETTRE ALTUZARRA C., VILLENEUVE N., BARTOLOMEI F., PICARD F., HORNEMANN F., KOOLEN D., KROES H., REALE C., FENGER C., TAN W., DIBBENS L., BEARDEN D., MOLLER R., RUBBOLI G.
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum
Brain, vol. 144, p. 3635
2021 dec


ISSA L., SARRET C., PEREIRA B., ROCHETTE E., MERLIN E., CARON N.
Lumbar puncture in infants with urinary tract infection: Assessment of infant management in the emergency department
Archives de Pédiatrie, vol. 28, p. 8
2021


PONTIER B., SONTHEIMER A., COSTE J., EL OUADIH Y., BRIANÇON A., MILLET G., PANTERA E., SARRET C., LEMAIRE J.
Neural correlates of rehabilitation program with robot-assisted intensive therapy in one case of Holmes tremor
annals of physical and rehabilitation medicine, vol. 64, p. 101411
2021 jun


GARDE A., CORNATON J., SORLIN A., MOUTTON S., NICOLAS C., JUIF C., GENEVIÈVE D., PERRIN L., KHAU-VAN-KIEN P., SMOL T., VINCENT-DELORME C., ISIDOR B., COGNÉ B., AFENJAR A., KEREN B., COUBES C., PRIEUR F., TOUTAIN A., TROUSSELET Y., BOURGOUIN S., GONIN-OLYMPIADE C., GIRAUDAT K., PITON A., GÉRARD B., ODENT S., TESSIER F., LEMASSON L., HEIDE S., GELINEAU A., SARRET C., MIRET A., SCHAEFER E., PIARD J., MATHEVET R., BOUCON M., BRUEL A., MAU-THEM F., CHEVARIN M., VITOBELLO A., PHILIPPE C., THAUVIN-ROBINET C., FAIVRE L.
Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations
Clinical Genetics, vol. 99, p. 407
2021 mar 05


B TAN N., T PAGNAMENTA A., P FERLA M., GADIAN J., HY CHUNG B., CY CHAN M., LF FUNG J., COOK E., GUTER S., BOSCHANN F., HEINEN A., SCHALLNER J., MIGNOT C., KEREN B., WHALEN S., SARRET C., MITTAG D., DEMMER L., STAPLETON R., SAIDA K., MATSUMOTO N., MIYAKE N., SHEFFER R., MOR-SHAKED H., P BARNETT C., B BYRNE A., S SCOTT H., KRAUS A., CAPPUCCIO G., BRUNETTI-PIERRI N., IORIO R., DI DATO F., S PAIS L., YEUNG A., Y TAN T., C TAYLOR J., CHRISTODOULOU J., M WHITE S.
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability
JOURNAL OF MEDICAL GENETICS, vol. 1, p. 107462
2021


LAGRUE E., DOGAN C., DE ANTONIO M., AUDIC F., BACH N., BARNERIAS C., BELLANCE R., CANCES C., CHABROL B., CUISSET M., DESGUERRE I., DURIGNEUX J., ESPIL C., FRADIN M., HERON D., ISAPOF A., JACQUIN-PIQUES A., JOURNEL H., LAROCHE-RAYNAUD C., LAUGEL V., MAGOT A., MANEL V., MAYER M., PEREON Y., PERRIER-BOESWILLALD J., PEUDENIER S., QUIJANO-ROY S., RAGOT-MANDRY S., RICHELME C., RIVIER F., SABOURAUD P., SARRET C., TESTARD H., VANHULLE C., WALTHER-LOUVIER U., GHERARDI R., HAMROUN D., BASSEZ G.
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management
neurology, vol. 92, p. 852--865
2019 feb


SARRET C., ASHKAVAND Z., PAULES E., DORBOZ I., PEDIADITAKIS P., SUMNER S., EYMARD-PIERRE E., FRANCANNET C., KRUPENKO N., BOESPFLUG-TANGUY O., KRUPENKO S.
Deleterious mutations in aldh1l2 suggest a novel cause for neuro-ichthyotic syndrome
npj genomic medicine, vol. 4, p. 17
2019


WAHBI K., BEN YAOU R., GANDJBAKHCH E., ANSELME F., GOSSIOS T., LAKDAWALA N., STALENS C., SACHER F., BABUTY D., TROCHU J., MOUBARAK G., SAVVATIS K., PORCHER R., LAFORET P., FAYSSOIL A., MARIJON E., STOJKOVIC T., BEHIN A., LEONARD-LOUIS S., SOLE G., LABOMBARDA F., RICHARD P., METAY C., QUIJANO-ROY S., DABAJ I., KLUG D., VANTYGHEM M., CHEVALIER P., AMBROSI P., SALORT-CAMPANA E., SADOUL N., WAINTRAUB X., CHIKHAOUI K., MABO P., COMBES N., MAURY P., SELLAL J., TEDROW U., KALMAN J., VOHRA J., ANDROULAKIS A., ZEPPENFELD K., THOMPSON T., BARNERIAS C., BECANE H., BIETH E., BOCCARA F., BONNET D., BOUHOUR F., BOULE S., BREHIN A., CHAPON F., CINTAS P., CUISSET J., DAVY J., DE SANDRE-GIOVANNOLI A., DEMURGER F., DESGUERRE I., DIETERICH K., DURIGNEUX J., ECHANIZ-LAGUNA A., ESCHALIER R., FERREIRO A., FERRER X., FRANCANNET C., FRADIN M., GABORIT B., GAY A., HAGEGE A., ISAPOF A., JERU I., JUNTAS MORALES R., LAGRUE E., LAMBLIN N., LASCOLS O., LAUGEL V., LAZARUS A., LETURCQ F., LEVY N., MANEL V., MARTINS R., MAYER M., MERCIER S., MEUNE C., MICHAUD M., MINOT-MYHIE M., MUCHIR A., NADAJ-PAKLEZA A., PEREON Y., PETIOT P., PETIT F., PRALINE J., ROLLIN A., SABOURAUD P., SARRET C., SCHAEFFER S., TAITHE F., TARD C., TIFFREAU V., TOUTAIN A., VATIER C., WALTHER-LOUVIER U., EYMARD B., CHARRON P., VIGOUROUX C., BONNE G., KUMAR S., ELLIOTT P., DUBOC D.
Development and validation of a new risk prediction score for life-threatening ventricular tachyarrhythmias in laminopathies
circulation, vol. 140, p. 293
2019 jul


REMERAND G., BOESPFLUG-TANGUY O., TONDUTI D., TOURAINE R., RODRIGUEZ D., CURIE A., PERRETON N., DES PORTES V., SARRET C., AFENJAR A., BURGLEN L., CASTELLOTTI B., CUNTZ D., DESGUERRE I., DOUMMAR D., ESTIENNE M., FRERI E., HERON D., MOUTARD M., NOVARA F., ORCESI S., SALETTI V., ZIBORDI F.
Expanding the phenotypic spectrum of allan–herndon–dudley syndrome in patients with slc 16a2 mutations
developmental medicine and child neurology, vol. 61, p. 1439
2019 aug


ROCHETTE E., BOURDIER P., PEREIRA B., ECHAUBARD S., BORDERON C., CARON N., CHAUSSET A., COURTEIX D., FEL S., KANOLD J., PAYSAL J., RATEL S., ROUEL N., SARRET C., TERRAL D., USCLADE A., MERLIN E., DUCHE P.
Impaired muscular fat metabolism in juvenile idiopathic arthritis in inactive disease
frontiers in physiology, vol. 10, p. 1
2019 may


SARRET C.
Leukodystrophies and genetic leukoencephalopathies in children
revue neurologique, vol. 176, p. 10
2019 jun


SCHLUTH-BOLARD C., DIGUET F., CHATRON N., ROLLAT-FARNIER P., BARDEL C., AFENJAR A., AMBLARD F., AMIEL J., BLESSON S., CALLIER P., CAPRI Y., COLLIGNON P., CORDIER M., COUBES C., DEMEER B., CHAUSSENOT A., DEMURGER F., DEVILLARD F., DOCO-FENZY M., DUPONT C., DUPONT J., DUPUIS-GIROD S., FAIVRE L., GILBERT-DUSSARDIER B., GUERROT A., HOULIER M., ISIDOR B., JAILLARD S., JOLY-HELAS G., KREMER V., LACOMBE D., LE CAIGNEC C., LEBBAR A., LEBRUN M., LESCA G., LESPINASSE J., LEVY J., MALAN V., MATHIEU-DRAMARD M., MASSON J., MASUREL-PAULET A., MIGNOT C., MISSIRIAN C., MORICE-PICARD F., MOUTTON S., NADEAU G., PEBREL-RICHARD C., ODENT S., PAQUIS-FLUCKLINGER V., PASQUIER L., PHILIP N., PLUTINO M., PONS L., PORTNOI M., PRIEUR F., PUECHBERTY J., PUTOUX A., RIO M., ROORYCK-THAMBO C., ROSSI M., SARRET C., SATRE V., SIFFROI J., TILL M., TOURAINE R., TOUTAIN A., TOUTAIN J., VALENCE S., VERLOES A., WHALEN S., EDERY P., TABET A., SANLAVILLE D.
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
journal of medical genetics, vol. 56, p. 526
2019 mar


SARRET C., LEMAIRE J., SONTHEIMER A., COSTE J., SAVY N., PEREIRA B., ROCHE B., BOESPFLUG-TANGUY O.
Brain diffusion imaging and tractography to distinguish clinical severity of human plp1-related disorders
developmental neuroscience, vol. 40, p. 301--311
2018 sep


LEMAIRE J., SONTHEIMER A., PEREIRA B., COSTE J., ROSENBERG S., SARRET C., COLL G., GABRILLARGUES J., JEAN B., GILLART T., COSTE A., ROCHE B., KELLY A., PONTIER B., FESCHET F.
Deep brain stimulation in five patients with severe disorders of consciousness
annals of clinical and translational neurology, vol. 5, p. 1372--1384
2018


RIBSTEIN C., COURTEIX D., RABIAU N., BOMMELAER C., BOURDEAU Y., PEREIRA B., SARRET C.
Secondary bone defect in neuromuscular diseases in childhood: a longitudinal "muscle-bone unit" analysis
neuropediatrics, vol. 49, p. 397--400
2018 nov


SARRET C., LEMAIRE J., SONTHEIMER A., COSTE J., SAVY N., PEREIRA B., ROCHE B., BOESPFLUG-TANGUY O.
Brain diffusion imaging and tractography to distinguish clinical severity of human plp1-related disorders
2ème journèe conjointe TGI MPS Techmed
2018 sep 21


LEMAIRE J., SONTHEIMER A., PEREIRA B., ROSENBERG S., SARRET C., COLL G., GABRILLARGUES J., JEAN B., GILLART T., COSTE J., ROCHE B., KELLY A., PONTIER B., FESCHET F.
Comportements conscients apres stimulation cerebrale profonde chez cinq patients souffrant de troubles de la conscience severes
colloque 2018, france traumatisme cranien, association nationale des professionnels au service des traumatises craniens
2018 nov


SARRET C., JACQUES LEMAIRE J., SONTHEIMER A., PEREIRA B., SAVY N., ROCHE B., BOESPFLUG-TANGUY O.
Diffusion quantitative et tractographie chez 35 patients porteurs de maladie de Pelizaeus-Merzbacher et paraplégie spastique de type 2
28e congrès de la société francaise de neurologie pédiatrique
2018


ALLALI S., DORBOZ I., SAMAAN S., SLAMA A., RAMBAUD C., BOESPFLUG-TANGUY O., SARRET C.
Identification par séquençage d’exome de mutations dans le gène AGK chez deux frères porteurs d’une forme atypique de syndrome de Sengers.
28e congrès de la Société francaise de neurologie pédiatrique
2018


LEMAIRE J., SONTHEIMER A., COLL G., SARRET C., NEZZAR H., ROSENBERG S., PONTIER B., COSTE J., FESCHET F., WOHRER A., DE SCHLICHTING E., SAKKA L., LUBRANO V.
The brainstem and cerebral activation
the brainstem and behavior nova science publishers, inc.
2017


SARRET C., LEMAIRE J., SONTHEIMER A., COSTE J., PEREIRA B., ROCHE B., BOESPFLUG-TANGUY O.
Cerebral quantitative dti and tractography in 25 patients with plp1-related disorders
12th european paediatric neurology society congress
2017 jun


LEMAIRE J., SONTHEIMER A., PEREIRA B., COSTE J., ROSENBERG S., SARRET C., COLL G., GABRILLARGUES J., JEAN B., GILLART T., COSTE A., ROCHE B., KELLY A., PONTIER B., FESCHET F.
Conscious behaviors following bilateral pallido-thalamic low frequency stimulation in patients with continuing disorders of consciousness
1ere journee conjointe tgi techmed
2017 sep 22


MATHAIS S., SARRET C., SONTHEIMER A., LEMAIRE J., PEREIRA B., ROSENBERG S.
Imagerie en tenseur de diffusion des relations thalamo-corticales dans le syndrome des pointes ondes continues du sommeil (pocs) cryptogenique
20emes journees francaises de l'epilepsie
2017 oct


SARRET C., LEMAIRE J., TONDUTI D., SONTHEIMER A., COSTE J., PEREIRA B., FESCHET F., ROCHE B., BOESPFLUG-TANGUY O.
Time-course of myelination and atrophy on cerebral imaging in 35 patients with plp1 -related disorders
developmental medicine and child neurology, vol. 58, p. 706--713
2016


LEMAIRE J., PONTIER B., SONTHEIMER A., FESCHET F., COSTE J., NEZZAR H., DE SCHLICHTING E., LUAUTE J., SARRAF T., SARRET C., COLL G., ROSENBERG S., GABRILLARGUES J.
Chronic dbs stimulation of minimally conscious state: methodological issues
Stereotactic and Functional Neurosurgery
2016 sep 28


LEMAIRE J., SONTHEIMER A., NEZZAR H., PONTIER B., LUAUTE J., ROCHE B., GILLART T., GABRILLARGUES J., ROSENBERG S., SARRET C., FESCHET F., VASSAL F., FONTAINE D., COSTE J.
Electrical modulation of neuronal networks in brain-injured patients with disorders of consciousness: a systematic review
annales francaises d'anesthesie et de reanimation, vol. 33, p. 88--97
2014


SARRET C., LEMAIRE J., SONTHEIMER A., COSTE J., PEREIRA B., FESCHET F., ROCHE B., RENOU J., BOESPFLUG-TANGUY O.
Cerebral atrophy is linked to clinical severity and worsens with aging in patients with pelizaeus–merzbacher disease and spastic paraplegia type 2
42nd congress of the european society of neurological pediatry, in conjunction with the 20th mediterranean meeting of child neurology
2014 sep 3


LEMAIRE J., NEZZAR H., SAKKA L., BOIRIE Y., FONTAINE D., COSTE A., COLL G., SONTHEIMER A., SARRET C., GABRILLARGUES J., SALLES A.
Maps of the adult human hypothalamus
surgical neurology international, vol. 4, p. 156--63
2013


LEMAIRE J., SONTHEIMER A., NEZZAR H., PONTIER B., LUAUTE J., ROCHE B., GILLART T., GABRILLARGUES J., ROSENBERG S., SARRET C., FESCHET F., VASSAL F., FONTAINE D., COSTE J.
Electrical modulation of neuronal networks in brain-injured patients with disorders of consciousness: a systematic review.
35emes journees de l'association de neuro-anesthesie reanimation de langue francaise
2013 nov 21