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Papers authored by Boddaert N

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Unusual consequences of status epilepticus in Dravet syndrome.

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Chipaux M, Villeneuve N, Sabouraud P, Desguerre I, Boddaert N, Depienne C, Chiron C, Dulac O, and Nabbout R

Seizure : the journal of the British Epilepsy Association 19(3):190-4, 2010 Apr - Who cited this? | PubMed ID: 20172746 | Fulltext

Management of west syndrome in a patient with methylmalonic aciduria.

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Campeau PM, Valayannopoulos V, Touati G, Bahi-Buisson N, Boddaert N, Plouin P, Rabier D, Benoist JF, Dulac O, de Lonlay P, and Desguerre I

Journal of child neurology 25(1):94-7, 2010 Jan - Who cited this? | PubMed ID: 19700743 | Fulltext

Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome.

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Neven B, Marvillet I, Terrada C, Ferster A, Boddaert N, Couloignier V, Pinto G, Pagnier A, Bodemer C, Bodaghi B, Tardieu M, Prieur AM, and Quartier P

Arthritis and rheumatism 62(1):258-67, 2010 Jan - Who cited this? | PubMed ID: 20039428 | Fulltext

Cognitive and academic outcome after benign or malignant cerebellar tumor in children.

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Callu D, Viguier D, Laroussinie F, Puget S, Boddaert N, Kieffer V, Piana H, Escolano S, Renier D, Sainte-Rose C, Grill J, and Dellatolas G

Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology 22(4):270-8, 2009 Dec - Who cited this? | PubMed ID: 19996881 | Fulltext

Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation.

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Philippe O, Rio M, Carioux A, Plaza JM, Guigue P, Molinari F, Boddaert N, Bole-Feysot C, Nitschke P, Smahi A, Munnich A, and Colleaux L

American journal of human genetics 85(6):903-8, 2009 Dec - Who cited this? | PubMed ID: 20004764 | Fulltext

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

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Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, Roume J,

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Human mutation 30(11):1574-82, 2009 Nov - Who cited this? | PubMed ID: 19777577 | Fulltext

Forniceal glioma in children.

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Blauwblomme T, Varlet P, Goodden JR, Cuny ML, Piana H, Roujeau T, Dirocco F, Grill J, Kieffer V, Boddaert N, Sainte-Rose C, and Puget S

Journal of neurosurgery. Pediatrics 4(3):249-53, 2009 Sep - Who cited this? | PubMed ID: 19772409 | Fulltext

Childhood gangliogliomas with ependymal differentiation.

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Varlet P, Peyre M, Boddaert N, Miquel C, Sainte-Rose C, and Puget S

Neuropathology and applied neurobiology 35(4):437-41, 2009 Aug - Who cited this? | PubMed ID: 19220760 | Fulltext

Hypothalamic lipoma associated with severe obesity.

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Puget S, Garnett MR, Leclercq D, Pinto-Primard G, Samara-Boustani D, Sainte-Rose C, Genevieve D, Polak M, De Lonlay P, Brunelle F, Benabid AL, and Boddaert N

Journal of neurosurgery. Pediatrics 4(2):147-50, 2009 Aug - Who cited this? | PubMed ID: 19645549 | Fulltext

LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.

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Saillour Y, Carion N, Quelin C, Leger PL, Boddaert N, Elie C, Toutain A, Mercier S, Barthez MA, Milh M, Joriot S, des Portes V, Philip N, Broglin D, Roubertie A, Pitelet G,

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Archives of neurology 66(8):1007-15, 2009 Aug - Who cited this? | PubMed ID: 19667223 | Fulltext

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts.

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Molinari F, Kaminska A, Fiermonte G, Boddaert N, Raas-Rothschild A, Plouin P, Palmieri L, Brunelle F, Palmieri F, Dulac O, Munnich A, and Colleaux L

Clinical genetics 76(2):188-94, 2009 Aug - Who cited this? | PubMed ID: 19780765 | Fulltext

Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients.

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Schmid JP, Moshous D, Boddaert N, Neven B, Dal Cortivo L, Tardieu M, Cavazzana-Calvo M, Blanche S, de Saint Basile G, and Fischer A

Blood 114(1):211-8, 2009 Jul 2 - Who cited this? | PubMed ID: 19403888 | Fulltext

Long-term outcome in methylmalonic aciduria: A series of 30 French patients.

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Cosson MA, Benoist JF, Touati G, Déchaux M, Royer N, Grandin L, Jais JP, Boddaert N, Barbier V, Desguerre I, Campeau PM, Rabier D, Valayannopoulos V, Niaudet P, and de Lonlay P

Molecular genetics and metabolism 97(3):172-8, 2009 Jul - Who cited this? | PubMed ID: 19375370 | Fulltext

The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

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Brahimi N, Jambou M, Sarzi E, Serre V, Boddaert N, Romano S, de Lonlay P, Slama A, Munnich A, Rötig A, Bonnefont JP, and Lebre AS

Molecular genetics and metabolism 97(3):221-6, 2009 Jul - Who cited this? | PubMed ID: 19394258 | Fulltext

Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.

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Valayannopoulos V, Boddaert N, Mention K, Touati G, Barbier V, Chabli A, Sedel F, Kaplan J, Dufier JL, Seidenwurm D, Rabier D, Saudubray JM, and de Lonlay P

Molecular genetics and metabolism 97(2):109-13, 2009 Jun - Who cited this? | PubMed ID: 19345633 | Fulltext

Sporadic case of unusual facies, cerebral vascular anomalies and developmental delay.

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Bertoli M, Boddaert N, Raoul O, Amiel J, and Lyonnet S

Clinical dysmorphology 18(2):110-1, 2009 Apr - Who cited this? | PubMed ID: 19057380 | Fulltext

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.

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de Pontual L, Mathieu Y, Golzio C, Rio M, Malan V, Boddaert N, Soufflet C, Picard C, Durandy A, Dobbie A, Heron D, Isidor B, Motte J, Newburry-Ecob R, Pasquier L, Tardieu M,

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Human mutation 30(4):669-76, 2009 Apr - Who cited this? | PubMed ID: 19235238 | Fulltext

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.

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Hanein S, Perrault I, Roche O, Gerber S, Khadom N, Rio M, Boddaert N, Jean-Pierre M, Brahimi N, Serre V, Chretien D, Delphin N, Fares-Taie L, Lachheb S, Rotig A, Meire F,

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American journal of human genetics 84(4):493-8, 2009 Apr - Who cited this? | PubMed ID: 19327736 | Fulltext

Injuries to inferior vermis and dentate nuclei predict poor neurological and neuropsychological outcome in children with malignant posterior fossa tumors.

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Puget S, Boddaert N, Viguier D, Kieffer V, Bulteau C, Garnett M, Callu D, Sainte-Rose C, Kalifa C, Dellatolas G, and Grill J

Cancer 115(6):1338-47, 2009 Mar 15 - Who cited this? | PubMed ID: 19195041 | Fulltext

[Autism and brain imaging].

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Brunelle F, Boddaert N, and Zilbovicius M

Bulletin de l'Academie nationale de medecine 193(2):287-97; discussion 297-8, 2009 Feb - Who cited this? | PubMed ID: 19718886 | Fulltext

Impairment of cerebello-thalamo-frontal pathway in Rab-GDI mutated patients with pure mental deficiency.

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Curie A, Sacco S, Bussy G, de Saint Martin A, Boddaert N, Chanraud S, Meresse I, Chelly J, Zilbovicius M, and des Portes V

European journal of medical genetics 52(1):6-13, 2009 - Who cited this? | PubMed ID: 18992375 | Fulltext

MRI findings in 77 children with non-syndromic autistic disorder.

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Boddaert N, Zilbovicius M, Philipe A, Robel L, Bourgeois M, Barthélemy C, Seidenwurm D, Meresse I, Laurier L, Desguerre I, Bahi-Buisson N, Brunelle F, Munnich A, Samson Y, Mouren MC, and Chabane N

PLoS ONE 4(2):e4415, 2009 - Who cited this? | PubMed ID: 19204795 | Fulltext

Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.

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Saadi A, Borck G, Boddaert N, Chekkour MC, Imessaoudene B, Munnich A, Colleaux L, and Chaouch M

European journal of medical genetics 52(4):180-4, 2009 - Who cited this? | PubMed ID: 19332161 | Fulltext

Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients.

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Gitiaux C, Roze E, Kinugawa K, Flamand-Rouvière C, Boddaert N, Apartis E, Valayannopoulos V, Touati G, Motte J, Devos D, Mention K, Dobbelaere D, Rodriguez D, Roubertie A, Chabrol B, Feillet F,

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Movement disorders : official journal of the Movement Disorder Society 23(16):2392-7, 2008 Dec 15 - Who cited this? | PubMed ID: 18823014 | Fulltext

[MRI and fetal MDCT in the diagnosis of fetal malformations].

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Brunelle F, Sonigo P, Boddaert N, Benachi A, and Dumez Y

Bulletin de l'Academie nationale de medecine 192(8):1559-73; discussion 1573-4, 2008 Nov - Who cited this? | PubMed ID: 19445373 | Fulltext

The location of DCX mutations predicts malformation severity in X-linked lissencephaly.

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Leger PL, Souville I, Boddaert N, Elie C, Pinard JM, Plouin P, Moutard ML, des Portes V, Van Esch H, Joriot S, Renard JL, Chelly J, Francis F, Beldjord C, and Bahi-Buisson N

Neurogenetics 9(4):277-85, 2008 Oct - Who cited this? | PubMed ID: 18685874 | Fulltext

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.

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Bahi-Buisson N, Poirier K, Boddaert N, Saillour Y, Castelnau L, Philip N, Buyse G, Villard L, Joriot S, Marret S, Bourgeois M, Van Esch H, Lagae L, Amiel J, Hertz-Pannier L, Roubertie A,

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Journal of medical genetics 45(10):647-53, 2008 Oct - Who cited this? | PubMed ID: 18728072 | Fulltext

Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase.

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Bahi-Buisson N, El Sabbagh S, Soufflet C, Escande F, Boddaert N, Valayannopoulos V, Bellané-Chantelot C, Lascelles K, Dulac O, Plouin P, and de Lonlay P

Seizure : the journal of the British Epilepsy Association 17(7):658-664, 2008 Oct - Who cited this? | PubMed ID: 18321734 | Fulltext

Key clinical features to identify girls with CDKL5 mutations.

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Bahi-Buisson N, Nectoux J, Rosas-Vargas H, Milh M, Boddaert N, Girard B, Cances C, Ville D, Afenjar A, Rio M, Héron D, N'guyen Morel MA, Arzimanoglou A, Philippe C, Jonveaux P, Chelly J,

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Brain : a journal of neurology, 2008 Sep 12 - Who cited this? | PubMed ID: 18790821 | Fulltext

Combination of infantile spasms, non-epileptic seizures and complex movement disorder: A new case of ARX-related epilepsy.

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Poirier K, Eisermann M, Caubel I, Kaminska A, Peudonnier S, Boddaert N, Saillour Y, Dulac O, Souville I, Beldjord C, Lascelles K, Plouin P, Chelly J, and Bahi-Buisson N

Epilepsy research 80(2-3):224, 2008 Aug - Who cited this? | PubMed ID: 18468866 | Fulltext

Unusual magnetic resonance imaging features in Menkes disease.

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Barnerias C, Boddaert N, Pascale G, Isabelle D, Hertz Pannier L, Dulac O, de Lonlay P, and Bahi Buisson N

Brain & development 30(7):489-92, 2008 Aug - Who cited this? | PubMed ID: 18243619 | Fulltext

Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood.

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Philippe A, Boddaert N, Vaivre-Douret L, Robel L, Danon-Boileau L, Malan V, de Blois MC, Heron D, Colleaux L, Golse B, Zilbovicius M, and Munnich A

Pediatrics, 2008 Jul 14 - Who cited this? | PubMed ID: 18625665 | Fulltext

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome.

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Borck G, Mollà-Herman A, Boddaert N, Encha-Razavi F, Philippe A, Robel L, Desguerre I, Brunelle F, Benmerah A, Munnich A, and Colleaux L

Human mutation 29(7):966, 2008 Jul - Who cited this? | PubMed ID: 18428203 | Fulltext

[Epileptogenic brain malformations: Radiological and clinical presentation and indications for genetic testing.].

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Bahi-Buisson N, Boddaert N, Saillour Y, Souville I, Poirier K, Léger PL, Castelnau L, Plouin P, Carion N, Beldjord C, and Chelly J

Revue neurologique, 2008 Jun 9 - Who cited this? | PubMed ID: 18808783 | Fulltext

The three stages of epilepsy in patients with CDKL5 mutations.

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Bahi-Buisson N, Kaminska A, Boddaert N, Rio M, Afenjar A, Gérard M, Giuliano F, Motte J, Héron D, Morel MA, Plouin P, Richelme C, des Portes V, Dulac O, Philippe C, Chiron C,

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Epilepsia 49(6):1027-37, 2008 Jun - Who cited this? | PubMed ID: 18266744 | Fulltext

[PET and Paediatrics.].

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Boddaert N and Ribeiro MJ

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 15(5):711-2, 2008 May - Who cited this? | PubMed ID: 18582723 | Fulltext

[Epilepsy surgery in children: from a multidisciplinary network to the creation of an expertise and care centre].

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Arzimanoglou A, Bourgeois M, Kahane P, Hirsch E, Boddaert N, Ryvlin P, and Sainte-Rose C

Neuro-Chirurgie 54(3):479-83, 2008 May - Who cited this? | PubMed ID: 18417159 | Fulltext

[Epilepsy and focal lesions in children. Surgical management].

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Bourgeois M, Di Rocco F, Roujeau T, Boddaert N, Lelouch-Tubiana A, Varlet P, Eisermann M, Piana H, Baugnon T, Puget S, Pierre-Kahn A, Zerah M, and Sainte-Rose C

Neuro-Chirurgie 54(3):362-5, 2008 May - Who cited this? | PubMed ID: 18440033 | Fulltext

Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia.

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Arnoux JB, Boddaert N, Valayannopoulos V, Romano S, Bahi-Buisson N, Desguerre I, de Keyzer Y, Munnich A, Brunelle F, Seta N, Dautzenberg MD, and de Lonlay P

Molecular genetics and metabolism 93(4):444-9, 2008 Apr - Who cited this? | PubMed ID: 18093857 | Fulltext

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.

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Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, and Rötig A

American journal of human genetics 82(3):623, 2008 Mar - Who cited this? | PubMed ID: 18319072 | Fulltext

Epilepsy associated with shaken baby syndrome.

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Bourgeois M, Di Rocco F, Garnett M, Charron B, Boddaert N, Soufflet C, Roujeau T, Zerah M, Sainte-Rose C, Plouin P, and Renier D

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 24(2):169-72, 2008 Feb - Who cited this? | PubMed ID: 18026964 | Fulltext

Transient magnetic resonance diffusion abnormalities in West syndrome: the radiological expression of non-convulsive status epilepticus?.

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Desguerre I, Marti I, Valayannopoulos V, Bahi-Buisson N, Dulac O, Plouin P, Delonlay P, Hertz-Pannier L, and Boddaert N

Developmental medicine and child neurology 50(2):112-6, 2008 Feb - Who cited this? | PubMed ID: 18201300 | Fulltext

1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency.

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Boddaert N, Romano S, Funalot B, Rio M, Sarzi E, Lebre AS, Bahi-Buisson N, Valayannopoulos V, Desguerre I, Seidenwurm D, Brunelle F, Brami-Zylberberg F, Rötig A, Munnich A, and de Lonlay P

Molecular genetics and metabolism 93(1):85-8, 2008 Jan - Who cited this? | PubMed ID: 17950645 | Fulltext

[Hyperinsulinism in children].

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Brunelle F, Ribeiro M, Boddaert N, Nihoul-Fekete C, Jaubert F, Rahier J, and de Lonlay P

Bulletin de l'Academie nationale de medecine 192(1):59-70; discussion 71-2, 2008 Jan - Who cited this? | PubMed ID: 18663982 | Fulltext

The added value of [(18)F]fluoro-L: -DOPA PET in the diagnosis of hyperinsulinism of infancy: a retrospective study involving 49 children.

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Ribeiro MJ, Boddaert N, Bellanné-Chantelot C, Bourgeois S, Valayannopoulos V, Delzescaux T, Jaubert F, Nihoul-Fékété C, Brunelle F, and De Lonlay P

European journal of nuclear medicine and molecular imaging 34(12):2120-8, 2007 Dec - Who cited this? | PubMed ID: 17661030 | Fulltext

Pediatric infratentorial gangliogliomas: a retrospective series.

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Baussard B, Di Rocco F, Garnett MR, Boddaert N, Lellouch-Tubiana A, Grill J, Puget S, Roujeau T, Zerah M, and Sainte-Rose C

Journal of neurosurgery 107(4 Suppl):286-91, 2007 Oct - Who cited this? | PubMed ID: 17941492 | Fulltext

Selective iron chelation in Friedreich ataxia: biologic and clinical implications.

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Boddaert N, Le Quan Sang KH, Rötig A, Leroy-Willig A, Gallet S, Brunelle F, Sidi D, Thalabard JC, Munnich A, and Cabantchik ZI

Blood 110(1):401-8, 2007 Jul 1 - Who cited this? | PubMed ID: 17379741 | Fulltext

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.

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Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C,

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Nature genetics 39(7):875-81, 2007 Jul - Who cited this? | PubMed ID: 17558409 | Fulltext

Stereotactic biopsy of diffuse pontine lesions in children.

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Roujeau T, Machado G, Garnett MR, Miquel C, Puget S, Geoerger B, Grill J, Boddaert N, Di Rocco F, Zerah M, and Sainte-Rose C

Journal of neurosurgery 107(1 Suppl):1-4, 2007 Jul - Who cited this? | PubMed ID: 17647306 | Fulltext

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.

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Tory K, Lacoste T, Burglen L, Morinière V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, and Saunier S

Journal of the American Society of Nephrology : JASN 18(5):1566, 2007 May - Who cited this? | PubMed ID: 17409309 | Fulltext

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