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Jean-Marie Cuisset

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Olivier Outteryck; Tanya Stojkovic; Hélène Zéphir; Marilyn Cabaret; Jean-Marie Cuisset; J de Sèze; Sophie Delalande; Vincent Deramecourt; Dries Dobbelaere; Brian Fowler; Arnaud Lacour; Anne-Catherine Lepoutre; Patrick Vermersch
Methionine synthase deficiency: a rare cause of adult-onset leukoencephalopathy.
Bénédicte Héron; François Labarthe; Philippe Latour; Hélène Maurey; Hélène Ogier; Frédéric Sedel; Vassili Valayannopoulos; Julien Baruteau; Brigitte Chabrol; Jean-Marie Cuisset; Thierry Billette de Villemeur; Dries Dobbelaere; Didier Eyer; marie T vanier
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.
Hélène Bourteel; Patrick Vermersch; Jean-Marie Cuisset; Claude-Alain Maurage; P Laforet; P Richard; Tanya Stojkovic
Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients.

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All Publications

2012: Olivier Outteryck; Tanya Stojkovic; Hélène Zéphir; Marilyn Cabaret; Jean-Marie Cuisset; J de Sèze; Sophie Delalande; Vincent Deramecourt; Dries Dobbelaere; Brian Fowler; Arnaud Lacour; Anne-Catherine Lepoutre; Patrick Vermersch
Methionine synthase deficiency: a rare cause of adult-onset leukoencephalopathy.
Neurology 2012;79(4):386-8.
2012: Bénédicte Héron; François Labarthe; Philippe Latour; Hélène Maurey; Hélène Ogier; Frédéric Sedel; Vassili Valayannopoulos; Julien Baruteau; Brigitte Chabrol; Jean-Marie Cuisset; Thierry Billette de Villemeur; Dries Dobbelaere; Didier Eyer; marie T vanier
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.
Orphanet journal of rare diseases 2012;7():36.
2009: Hélène Bourteel; Patrick Vermersch; Jean-Marie Cuisset; Claude-Alain Maurage; P Laforet; P Richard; Tanya Stojkovic
Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients.
Journal of neurology, neurosurgery, and psychiatry 2009;80(12):1405-8.
2009: E Cetin; Jean-Marie Cuisset; V Tiffreau; Louis Vallée; Jean-François Hurtevent; A Thevenon
The value of electromyography in the aetiological diagnosis of hypotonia in infants and toddlers.
Annals of physical and rehabilitation medicine 2009;52(7-8):546-55.
2009: Natacha Porta; Louis Vallée; Elisabeth Boutry; Monique Fontaine; Anne-Frédérique Dessein; Sylvie Joriot; Jean-Marie Cuisset; Jean-Christophe Cuvellier; Stéphane Auvin
Comparison of seizure reduction and serum fatty acid levels after receiving the ketogenic and modified Atkins diet.
Seizure : the journal of the British Epilepsy Association 2009;18(5):359-64.
2008: Nathalie Guillot; Jean-Marie Cuisset; Jean-Christophe Cuvellier; Jean-François Hurtevent; Sylvie Joriot; Louis Vallee
Unusual clinical features in infantile Spinal Muscular Atrophies.
Brain & development 2008;30(3):169-78.
2008: Audrey Riquet; Stéphane Auvin; Jean-Marie Cuisset; Marie-Dominique Lamblin; Bernard Sablonnière; Jean-Christophe Cuvellier; Gustavo Soto-Ares; Claude-Alain Maurage; Louis Vallée
Epilepsia partialis continua and defects in the mitochondrial respiratory chain.
Epilepsy research 2008;78(1):1-6.
2007: S Morillon; Caroline Thumerelle; Jean-Marie Cuisset; Clarisse Santos; Régis Matran; Antoine Deschildre
[Effect of thoracic bracing on lung function in children with neuromuscular disease].
Annales de réadaptation et de médecine physique : revue scientifique de la Société française de rééducation fonctionnelle de réadaptation et de médecine physique 2007;50(8):645-50.
2007: Jean-Christophe Cuvellier; Antoine Fily; Sylvie Joriot; Jean-Marie Cuisset; Louis Vallée
French general practitioners' management of children's migraine headaches.
Headache 2007;47(9):1282-92.
2007: A Yanagisawa; C Bouchet; P Y K Van Den Bergh; Jean-Marie Cuisset; Louis Viollet; France Leturcq; Norma B Romero; Susana Quijano-Roy; Michel Fardeau; Nathalie Seta; Pascale Guicheney
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
Neurology 2007;69(12):1254-60.
2007: Stéphane Auvin; Louise Devisme; Claude-Alain Maurage; Gustavo Soto-Ares; Jean-Marie Cuisset; Francis Leclerc; Louis Vallée
Neuropathological and MRI findings in an acute presentation of hemiconvulsion-hemiplegia: a report with pathophysiological implications.
Seizure : the journal of the British Epilepsy Association 2007;16(4):371-6.
2007: Renaud Jardri; François Medjkane; Jean-Marie Cuisset; Louis Vallee; Pierre Delion; Jean-Louis Goeb
Huntington's disease presenting as a depressive disorder with psychotic features.
Journal of the American Academy of Child and Adolescent Psychiatry 2007;46(3):307-8.
2007: Hélène Bourteel; Tanya Stojkovic; Jean-Marie Cuisset; Claude-Alain Maurage; P Laforet; P Richard; Patrick Vermersch
[Phenotypic aspects of FKRP-linked muscular dystrophy type 2I in a series of eleven patients].
Revue neurologique 2007;163(2):189-96.
2006: David Devos; Isabelle Vuillaume; Alix de Becdelievre; Berengère de Martinville; Claire-Marie Dhaenens; Jean-Christophe Cuvellier; Jean-Marie Cuisset; Louis Vallée; Marie-Pierre Lemaitre; Hélène Bourteel; Eric Hachulla; Benoît Wallaert; Alain Destée; Luc Defebvre; Bernard Sablonnière
New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes.
Movement disorders : official journal of the Movement Disorder Society 2006;21(12):2237-40.
2006: J Avez-Couturier; Stéphane Auvin; Jean-Marie Cuisset; Gustavo Soto-Ares; Marie-Dominique Lamblin; Jean-Christophe Cuvellier; Louis Vallée
[Status epilepticus in a 2-month-old infant].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2006;13(12):1540-2, 1525.
2006: Jean-Marie Cuisset; Claude-Alain Maurage; J F Pellissier; Annie Barois; J Andoni Urtizberea; N Laing; H Tajsharghi; Louis Vallée
'Cap myopathy': case report of a family.
Neuromuscular disorders : NMD 2006;16(4):277-81.
2006: Stéphane Auvin; S Joriot-Chekaf; Jean-Christophe Cuvellier; Florence Pandit; Jean-Marie Cuisset; Marie-Magdeleine Ruchoux; Louis Vallée
Small vessel abnormalities in alternating hemiplegia of childhood: pathophysiologic implications.
Neurology 2006;66(4):499-504.
2005: Jean-Marie Cuisset; Sylvie Joriot; Stéphane Auvin; O Gozé; F Medjkane; A Salloum; Pierre Delion; Louis Vallée
[Neuropediatric approach to autism].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2005;12(12):1734-41.
2005: Annie Barois; Michèle Mayer; Isabelle Desguerre; Brigitte Chabrol; Carole Berard; Jean-Marie Cuisset; Danièle Leclair-Richard; Jacqueline Visconti-Lougovoy; Françoise Hatton; Brigitte Estournet-Mathiaud
[Spinal muscular atrophy. A 4-year prospective, multicenter, longitudinal study (168 cases)].
Bulletin de l'Académie nationale de médecine 2005;189(6):1181-98; discussion 1198-9.
2005: Louise Tyvaert; Tanya Stojkovic; Jean-Marie Cuisset; marie T vanier; J-C Turpin; J de Sèze; Patrick Vermersch
[Presentation of Niemann-Pick type C disease with psychiatric disturbance in an adult].
Revue neurologique 2005;161(3):318-22.
2004: Marie-Christine Vantyghem; Pascal Pigny; Claude-Alain Maurage; N Rouaix-Emery; Tanya Stojkovic; Jean-Marie Cuisset; Alain Millaire; Olivier Lascols; Patrick Vermersch; Jean-Louis Wemeau; Jacqueline Capeau; Corinne Vigouroux
Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities.
The Journal of clinical endocrinology and metabolism 2004;89(11):5337-46.
2004: Jean-Christophe Cuvellier; Florence Pandit; S Casalis; Marie-Pierre Lemaître; Jean-Marie Cuisset; A Platof; Louis Vallée
[A study of 100 consecutive children presenting with learning disabilities].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2004;11(3):201-6.
2004: Audrey Dubot; Catherine Godinot; V Dumur; Bernard Sablonnière; T Stojkovic; Jean-Marie Cuisset; Alena Vojtiskova; Petr Pecina; Pavel Jesina; Josef Houstek
GUG is an efficient initiation codon to translate the human mitochondrial ATP6 gene.
Biochemical and biophysical research communications 2004;313(3):687-93.
2004: Christophe Béroud; Alain Carrié; Cherif Beldjord; Nathalie Deburgrave; Stéphane Llense; Nadège Carelle; Cécile Peccate; Jean-Marie Cuisset; Florence Pandit; Frédérique Carré-Pigeon; Michèle Mayer; Rémi Bellance; Dominique Récan; Jamel Chelly; Jean-Claude Kaplan; France Leturcq
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene.
Neuromuscular disorders : NMD 2004;14(1):10-8.
2000: Gisèle Bonne; Eugenio Mercuri; Antoine Muchir; Andoni Urtizberea; Henri-Marc Bécane; Dominique Recan; Luciano Merlini; Manfred Wehnert; R Boor; U Reuner; Matthias Vorgerd; E M Wicklein; Bruno Eymard; Denis Duboc; I Penisson-Besnier; Jean-Marie Cuisset; Xavier Ferrer; Isabelle Desguerre; D Lacombe; Kate Bushby; C Pollitt; Daniela Toniolo; Michel Fardeau; Ketty Schwartz; Francesco Muntoni
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Annals of neurology 2000;48(2):170-80.
2000: Jean-Marie Cuisset; Jean-Christophe Cuvellier; C de Sèze; A Lombes; Régis Matran; M Fontaine; Louis Vallée
[Diagnostic approach to metabolic myopathies].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2000;7 Suppl 2():120s-121s.
2000: B Vandenhaute; E Leteurtre; Martine Lecomte-Houcke; pellerin philippe; JP Nuyts; Jean-Marie Cuisset; Gustavo Soto-Ares
Epignathus teratoma: report of three cases with a review of the literature.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2000;37(1):83-91.
2000: Jean-Christophe Cuvellier; Gustavo Soto-Ares; C de Sèze; C Santos; Jean-Marie Cuisset; Patrick Dhellemmes; Louis Vallée
[Radiology case of the month. Extrapontine myelinolysis].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2000;7(1):75-7.
1999: Louis Vallée; Jean-Marie Cuisset; Jean-Christophe Cuvellier; C de Sèze
[Febrile convulsions and other occasional convulsions in children].
La Revue du praticien 1999;49(14):1512-5.
1999: Jean-Marie Cuisset; Jean-Christophe Cuvellier; Louis Vallée; P Ryckewäert; Gustavo Soto-Ares; JP Nuyts
[Holoprosencephaly with neurogenic hypernatremia].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1999;6(1):43-5.
1998: Jean-Christophe Cuvellier; Jean-Marie Cuisset; JP Nuyts; Louis Vallée
Acquired and isolated asymmetrical palatal palsy.
Neuropediatrics 1998;29(6):324-5.
1997: Jean-Christophe Cuvellier; Marie-Dominique Lamblin; Jean-Marie Cuisset; Louis Vallée; JP Nuyts
[Benign reflex myoclonic epilepsy in infants].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1997;4(8):755-8.