A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy

Authors: Barrois, R., Barnerias, C., Deladrière, E., Leloup-Germa, V., Tervil, B., Audic, F., Boulay, C., Cances, C., Cintas, P., Davion, J.B., Espil-Taris, C., Manel, V., Pereon, Y., Piarroux, J., Quijano Roy, S., Vuillerot, C., Walther-Louvier, U., Desguerre, I., Gitiaux, C.

Source: In Neuromuscular Disorders April 2023 33(4):309-314

Clinical Phenotype in an Early-Onset French Pediatric Population: Charcot–Marie–Tooth's Disease Type 2A

Authors: Majorel-Beraud, C., Baudou, E., Walther-Louvier, U., Espil-Taris, C., Beze-Beyrie, P., Cintas, P., Rivier, F., Cances, C.

Source: Neuropediatrics. 52(5):351-357

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100190879479.0x000001&indx=1&recIds=ETOCvdc_100190879479.0x000001

Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations

Authors: Wallach, E., Walther- Louvier, U., Espil-Taris, C., Rivier, F., Baudou, E., Cances, C.

Source: In Archives de pédiatrie July 2018 25(5):322-326

Rituximab Therapy in the Treatment of Juvenile Myasthenia Gravis: The French Experience

Authors: Molimard, A., Gitiaux, C., Barnerias, C., Audic, F., Isapof, A., Walther-Louvier, U., Cances, C., Espil-Taris, C., Davion, J.-B., Quijano-Roy, S.

Source: Neurology. 98(23):970-970

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN629483950&indx=1&recIds=ETOCRN629483950

Variable phenotype of del45-55 Becker patients correlated with nNOSµ mislocalization and RYR1 hypernitrosylation

Authors: Gentil, C., Leturcq, F., Ben Yaou, R., Kaplan, J. C., Laforet, P., Pénisson-Besnier, I., Espil-Taris, C., Voit, T., Garcia, L., Piétri-Rouxel, F.

Source: HUMAN MOLECULAR GENETICS. 21(15):3449-3460

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN315690145&indx=1&recIds=ETOCRN315690145

Benign nocturnal alternating hemiplegia of childhood: Two cases with positive evolution

Authors: Villega, F., Picard, F., Espil-Taris, C., Husson, M., Michel, V., Pedespan, J. M.

Source: BRAIN AND DEVELOPMENT -INTERNATIONAL EDITION-. 33(6):525-529

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN290958074&indx=1&recIds=ETOCRN290958074

Severe neonatal myasthenia due to maternal anti-MuSK antibodies

Authors: Behin, A., Mayer, M., Kassis-Makhoul, B., Jugie, M., Espil-Taris, C., Ferrer, X., Chatenoud, L., Laforet, P., Eymard, B.

Source: NEUROMUSCULAR DISORDERS. 18(6):443-446

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN231851950&indx=1&recIds=ETOCRN231851950

A patient with hydranencephaly and PEHO-like dysmorphic features

Authors: Goizet, C., Espil-Taris, C., Husson, M., Chateil, J. F., Pedespan, J. M., Lacombe, D.

Source: ANNALES DE GENETIQUE. 46(1):25-28

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN133142654&indx=1&recIds=ETOCRN133142654

Trouble de la démarche d'origine neuromusculaire chez l'enfant: Neuromuscular gait disorders in children

Authors: Espil-Taris, C.

Source: In Perfectionnement en Pédiatrie June 2020 3(2) Supplement:S29-S31

Clinical and MRI findings in a case of D-2-hydroxyglutaric aciduria
Society for the Study of Inborn Errors of Metabolism

Authors: Mesli, S., Villega, F., Colombies, B., Redonnet-Vernhet, I., Lamireau, D., Mansour, R., Balestrat, S., Bertuletti, B., Espil-Taris, C., de Verneuil, H.

Source: JOURNAL OF INHERITED METABOLIC DISEASE. 33(SUPP/1):088-A

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCCN077085619&indx=1&recIds=ETOCCN077085619

A 10-year-old boy with dark urine and acute kidney injury: answer

Authors: Joussain, C., Lamireau, D., Espil-Taris, C., Précigout, V. r., Vianey-Saban, C., Llanas, B., Harambat, J. r.

Source: PEDIATRIC NEPHROLOGY -BERLIN-. 26(8):1231-1233

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN293483988&indx=1&recIds=ETOCRN293483988

Polymorphisme d'expression de l'atteinte epileptique et cognitive du syndrome du chromosome 20 en anneau

Authors: Villega, F., Ngayap, H., Espil-Taris, C., Husson, M., Rooryck-Thambo, C., Arveiler, B., Lacombe, D., Pedespan, J. M.

Source: ARCHIVES DE PEDIATRIE. 18(4):394-396

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN288312806&indx=1&recIds=ETOCRN288312806

Syndrome d'Angelman et anévrisme intracrânien : association fortuite ou prédisposition génétique commune ?

Authors: Meyer Witte, S., Espil-Taris, C., Cenraud, C., Le Brun, S., Loiseau, H., Chateil, J. F., Lacombe, D., Pé, despan, J. M.

Source: ARCHIVES DE PEDIATRIE. 12(4):431-433

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN166003363&indx=1&recIds=ETOCRN166003363

Cas radiologique du mois

Authors: Espil-Taris, C., Goizet, C., Del Villar, S. R., Pietrera, P., Chateil, J. F., Pillet, P.

Source: ARCHIVES DE PEDIATRIE. 11(9):1101-1103

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN155126670&indx=1&recIds=ETOCRN155126670

A 10-year-old boy with dark urine and acute kidney injury: question

Authors: Joussain, C., Lamireau, D., Espil-Taris, C., Précigout, V. r., Vianey-Saban, C., Llanas, B., Harambat, J. r.

Source: PEDIATRIC NEPHROLOGY -BERLIN-. 26(8):1229-1230

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN293483976&indx=1&recIds=ETOCRN293483976

G.P.3 09 Severe neonatal myasthenia due to maternal anti-MuSK antibodies

Authors: Behin, A., Mayer, M., Chatenoud, L., Ferrer, X., Espil-Taris, C., Laforet, P., Eymard, B.

Source: NEUROMUSCULAR DISORDERS. 16(9-10):661-662

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN194255560&indx=1&recIds=ETOCRN194255560

Une dysphagie aiguë : gardez les bons réflexes

Alternate Title: Acute dysphagia: Maintain good reflexes (English)

Authors: Madden, I., Espil-Taris, C., Rouanet-Larrivière, M.-F., Botte, A.

Source: In Perfectionnement en Pédiatrie March 2018 1(1):68-71

Infantile facioscapulohumeral muscular dystrophy (FSHD): A severe multi-systemic disease

Authors: Walther-Louvier, U., Meyer, P., Mercier, M., Manel, V., Cances, C., Espil-Taris, C., Richelme, C., Jeanpierre, M., Rivier, F.

Source: In European Journal of Paediatric Neurology June 2017 21 Supplement 1:e94-e95

P165 - 1953 Hopkins' syndrome a rare complication of asthma
Programme and Abstracts of the 10th EPNS Congress

Authors: Crozier, J., Espil-Taris, C., Maincent, K., Meyer, P., Nogues, M. C., Rivier, F., Echenne, B., Roubertie, A.

Source: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 17(SUPP/1):S98-S98

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN338749555&indx=1&recIds=ETOCRN338749555

G.P.75 Variable phenotype of del45-55 Becker patients correlated to nNOSm mislocalization and RYR1 hypernitrosylation

Authors: Gentil, C., Leturcq, F., Ben Yaou, R., Kaplan, J. C., Laforet, P., Penisson-Besnier, I., Espil-Taris, C., Voit, T., Garcia, L., Pietri-Rouxel, c. u.

Source: NEUROMUSCULAR DISORDERS. 22(9-10):834-834

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN317761775&indx=1&recIds=ETOCRN317761775