N. Bahi-buisson: search on Z-Library

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51

Malformations cérébrales et épilepsie : présentations radiocliniques et implications pour le diagnostic génétique

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

Journal:

Revue Neurologique

Year:

2008

File:

PDF, 3.72 MB

2008

52

Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation

Battaglia, A., Hoyme, H. E., Dallapiccola, B., Zackai, E., Hudgins, L., McDonald-McGinn, D., Bahi-Buisson, N., Romano, C., Williams, C. A., Brailey, L. L., Zuberi, S. M., Carey, J. C.

Journal:

Year:

2008

Language:

english

File:

PDF, 501 KB

english, 2008

53

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

Bahi-Buisson, N., Poirier, K., Boddaert, N., Fallet-Bianco, C., Specchio, N., Bertini, E., Caglayan, O., Lascelles, K., Elie, C., Rambaud, J., Baulac, M., An, I., Dias, P., des Portes, V., Moutard, M.

Journal:

Year:

2010

Language:

english

File:

PDF, 1.16 MB

english, 2010

54

Speech disturbances in patients with dystonia or chorea due to neurometabolic disorders

Constance Flamand-Rouvière, Emilie Guettard, Caroline Moreau, Nadia Bahi-Buisson, Vassili Valayannopoulos, David Grabli, Jacques Motte, Diana Rodriguez, Agathe Roubertie, Lisa Maintigneux, Isabelle Ke

Journal:

Movement Disorders

Year:

2010

Language:

english

File:

PDF, 321 KB

english, 2010

55

Rett networked database: An integrated clinical and genetic network of rett syndrome databases

Elisa Grillo, Laurent Villard, Angus Clarke, Bruria Ben Zeev, Mercedes Pineda, Nadia Bahi-Buisson, Anna Hryniewiecka-Jaworska, Thierry Bienvenu, Judith Armstrong, Ana Roche Martinez, Francesca Mari, E

Journal:

Year:

2012

Language:

english

File:

PDF, 290 KB

english, 2012

56

New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p

Nabbout, R., Baulac, S., Desguerre, I., Bahi-Buisson, N., Chiron, C., Ruberg, M., Dulac, O., LeGuern, E.

Journal:

Year:

2007

Language:

english

File:

PDF, 1.17 MB

english, 2007

57

Epileptic Phenotype of Two Siblings with Asparagine Synthesis Deficiency Mimics Neonatal Pyridoxine-Dependent Epilepsy

Gataullina, Svetlana, Lauer-Zillhardt, Julia, Kaminska, Anna, Galmiche-Rolland, Louise, Bahi-Buisson, Nadia, Pontoizeau, Clément, Ottolenghi, Chris, Dulac, Olivier, Fallet-Bianco, Catherine

Journal:

Neuropediatrics

Year:

2016

Language:

english

File:

PDF, 376 KB

english, 2016

58

International consensus recommendations on the diagnostic work-up for malformations of cortical development

Oegema, Renske, Barakat, Tahsin Stefan, Wilke, Martina, Stouffs, Katrien, Amrom, Dina, Aronica, Eleonora, Bahi-Buisson, Nadia, Conti, Valerio, Fry, Andrew E., Geis, Tobias, Andres, David Gomez, Parrin

Journal:

Nature Reviews Neurology (formerly Nature Clinical Practice Neurology)

Year:

2020

File:

PDF, 2.00 MB

2020

59

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia

Mireille Cossée, Laurence Faivre, Christophe Philippe, Heifa Hichri, Anne de Saint-Martin, Vincent Laugel, Nadia Bahi-Buisson, Jean-François Lemaitre, Bruno Leheup, Bruno Delobel, Bénédicte Demeer, Ka

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 165 KB

english, 2011

60

Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy

R. Nabbout, A. Kozlovski, E. Gennaro, N. Bahi-Buisson, F. Zara, C. Chiron, A. Bianchi, A. Brice, E. Leguern, O. Dulac

Journal:

Epilepsy Research

Year:

2003

Language:

english

File:

PDF, 67 KB

english, 2003

61

Revisiting the phenotype associated withFOXG1mutations: two novel cases of congenital Rett variant

Nadia Bahi-Buisson, Juliette Nectoux, Benoit Girard, Hilde Van Esch, Thomy De Ravel, Nathalie Boddaert, Perrine Plouin, Marlene Rio, Yann Fichou, Jamel Chelly, Thierry Bienvenu

Journal:

Year:

2010

Language:

english

File:

PDF, 485 KB

english, 2010

62

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy

Rosas-Vargas, H, Bahi-Buisson, N, Philippe, C, Nectoux, J, Girard, B, N'Guyen Morel, M A, Gitiaux, C, Lazaro, L, Odent, S, Jonveaux, P, Chelly, J, Bienvenu, T

Journal:

Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 855 KB

english, 2007

63

An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain

Fichou, Yann, Nectoux, Juliette, Bahi-Buisson, Nadia, Chelly, Jamel, Bienvenu, Thierry

Journal:

Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 795 KB

english, 2011

64

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

Vandervore, Laura V., Schot, Rachel, Milanese, Chiara, Smits, Daphne J., Kasteleijn, Esmee, Fry, Andrew E., Pilz, Daniela T., Brock, Stefanie, Börklü-Yücel, Esra, Post, Marco, Bahi-Buisson, Nadia, Sán

Journal:

The American Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 4.33 MB

english, 2019

65

Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis

Silvia, Masnada, Chiara, Doneda, Giana, Izzo, Manuela, Formica, Marco, Scarabello, Andrea, Accogli, Patrizia, Accorsi, Nadia, Bahi-Buisson, Valeria, Capra, Mara, Cavallin, Bernardo, Dalla Bernardina,

Journal:

Neuropediatrics

Year:

2020

File:

PDF, 315 KB

2020

66

Atypical case of hemiconvulsions-hemiplegia-epilepsy syndrome revealing contralateral focal cortical dysplasia

Nadia Bahi-Buisson, Manoelle Kossorotoff, Christine Barnerias, Nathalie Boddaert, Marie Bourgeois, Olivier Dulac, Perrine Plouin, Catherine Chiron, Lucie Hertz-Pannier

Journal:

Developmental Medicine & Child Neurology

Year:

2005

Language:

english

File:

PDF, 1.12 MB

english, 2005

67

Spectrum of epilepsy in terminal 1p36 deletion syndrome

Nadia Bahi-Buisson, Eva Guttierrez-Delicado, Christine Soufflet, Marlène Rio, Valérie Cormier Daire, Didier Lacombe, Delphine Héron, Alain Verloes, Sameer Zuberi, Lydie Burglen, Alexandra Afenjar, Mar

Journal:

Year:

2008

Language:

english

File:

PDF, 380 KB

english, 2008

68

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

Nadia Bahi-Buisson, Sandra El Sabbagh, Christine Soufflet, Fabienne Escande, Nathalie Boddaert, Vassili Valayannopoulos, Christine Bellané-Chantelot, Karine Lascelles, Olivier Dulac, Perrine Plouin, P

Journal:

Year:

2008

Language:

english

File:

PDF, 1.29 MB

english, 2008

69

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

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,

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 938 KB

english, 2008

70

Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations

J. Beltrand, C. Elie, K. Busiah, E. Fournier, N. Boddaert, N. Bahi-buisson, M. Vera, E. Bui-quoc, I. Ingster-moati, M. Berdugo, A. Simon, C. Gozalo, Z. Djerada, I. Flechtner, J. Treluyer, R. Scharfman

Year:

2015

Language:

english

File:

PDF, 998 KB

english, 2015

71

Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene

Nadia Bahi-Buisson, Benoit Girard, Agnes Gautier, Juliette Nectoux, Yann Fichou, Yoann Saillour, Karine Poirier, Jamel Chelly, Thierry Bienvenu

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2010

Language:

english

File:

PDF, 220 KB

english, 2010

72

CDKL5-Related Disorders: From Clinical Description to Molecular Genetics

Bahi-Buisson, N., Bienvenu, T.

Journal:

Molecular Syndromology

Year:

2011

Language:

english

File:

PDF, 602 KB

english, 2011

73

Late onset epileptic spasms is frequent in MECP2 gene duplication: Electroclinical features and long-term follow-up of 8 epilepsy patients

Caumes, Roseline, Boespflug-Tanguy, Odile, Villeneuve, Nathalie, Lambert, Laetitia, Delanoe, Catherine, Leheup, Bruno, Bahi-Buisson, Nadia, Auvin, Stéphane

Journal:

European Journal of Paediatric Neurology

Year:

2014

Language:

english

File:

PDF, 1.90 MB

english, 2014

74

Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human

Kielar, Michel, Tuy, Françoise Phan Dinh, Bizzotto, Sara, Lebrand, Cécile, de Juan Romero, Camino, Poirier, Karine, Oegema, Renske, Mancini, Grazia Maria, Bahi-Buisson, Nadia, Olaso, Robert, Le Moing,

Journal:

Nature Neuroscience

Year:

2014

Language:

english

File:

PDF, 2.76 MB

english, 2014

75

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

Philippe, Orianne, Rio, Marlène, Malan, Valérie, Van Esch, Hilde, Baujat, Geneviève, Bahi-Buisson, Nadia, Valayannopoulos, Vassili, Gesny, Roseline, Bonnefont, Jean-Paul, Munnich, Arnold, Froyen, Guy,

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.04 MB

english, 2013

76

The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome

Nectoux, J., Bahi-Buisson, N., Guellec, I., Coste, J., Roux, N. D., Rosas, H., Tardieu, M., Chelly, J., Bienvenu, T.

Journal:

Year:

2008

Language:

english

File:

PDF, 391 KB

english, 2008

77

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation

Alby, Caroline, Malan, Valérie, Boutaud, Lucile, Marangoni, Maria Angela, Bessières, Bettina, Bonniere, Maryse, Ichkou, Amale, Elkhartoufi, Nadia, Bahi-Buisson, Nadia, Sonigo, Pascale, Millischer, Ann

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2016

Language:

english

File:

PDF, 440 KB

english, 2016

78

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

Gitiaux, Cyril, Ceballos-Picot, Irène, Marie, Sandrine, Valayannopoulos, Vassili, Rio, Marlène, Verrieres, Séverine, Benoist, Jean François, Vincent, Marie Françoise, Desguerre, Isabelle, Bahi-Buisson

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 101 KB

english, 2008

79

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

Mencarelli, M. A., Spanhol-Rosseto, A., Artuso, R., Rondinella, D., De Filippis, R., Bahi-Buisson, N., Nectoux, J., Rubinsztajn, R., Bienvenu, T., Moncla, A., Chabrol, B., Villard, L., Krumina, Z., Ar

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 421 KB

english, 2010

80

Erratum. Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations. Diabetes Care 2015;38:2033–2041:

Beltrand, Jacques, Elie, Caroline, Busiah, Kanetee, Fournier, Emmanuel, Boddaert, Nathalie, Bahi-Buisson, Nadia, Vera, Miriam, Bui-Quoc, Emmanuel, Ingster-Moati, Isabelle, Berdugo, Marianne, Simon, Al

Journal:

Year:

2016

Language:

english

File:

PDF, 587 KB

english, 2016

81

A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features

Rejeb, Imen, Saillour, Yoann, Castelnau, Laetitia, Julien, Cédric, Bienvenu, Thierry, Taga, Patricia, Chaabouni, Habiba, Chelly, Jamel, Jemaa, Lamia Ben, Bahi-Buisson, Nadia

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 176 KB

english, 2008

82

[Handbook of Clinical Neurology] Pediatric Neurology Part I Volume 111 || Genetically determined encephalopathy

Bahi-Buisson, Nadia

Year:

2013

Language:

english

File:

PDF, 238 KB

english, 2013

83

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Leen, W. G., Klepper, J., Verbeek, M. M., Leferink, M., Hofste, T., van Engelen, B. G., Wevers, R. A., Arthur, T., Bahi-Buisson, N., Ballhausen, D., Bekhof, J., van Bogaert, P., Carrilho, I., Chabrol,

Journal:

Year:

2010

Language:

english

File:

PDF, 273 KB

english, 2010

84

Polysomnographic findings in Rett syndrome

Amaddeo, Alessandro, De Sanctis, Livio, Arroyo, Jorge Olmo, Khirani, Sonia, Bahi-Buisson, Nadia, Fauroux, Brigitte

Journal:

European Journal of Paediatric Neurology

Year:

2018

Language:

english

File:

PDF, 5.91 MB

english, 2018

85

Epileptic phenotypes in children with respiratory chain disorders

Sandra El Sabbagh, Anne-Sophie Lebre, Nadia Bahi-Buisson, Pascale Delonlay, Christine Soufflet, Nathalie Boddaert, Marlène Rio, Agnès Rötig, Olivier Dulac, Arnold Munnich, Isabelle Desguerre

Journal:

Year:

2010

Language:

english

File:

PDF, 844 KB

english, 2010

86

Erratum to “Parental view of epilepsy in Rett Syndrome” [Brain Dev. 30 (2008) 126–130]

Nadia Bahi-Buisson, Isabelle Guellec, Rima Nabbout, Agnès Guet, Gérard Nguyen, Olivier Dulac, Catherine Chiron

Journal:

Brain and Development

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

87

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

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

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 188 KB

english, 2008

88

Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities

Breuss, Martin, Heng, Julian Ik-Tsen, Poirier, Karine, Tian, Guoling, Jaglin, Xavier Hubert, Qu, Zhengdong, Braun, Andreas, Gstrein, Thomas, Ngo, Linh, Haas, Matilda, Bahi-Buisson, Nadia, Moutard, Mar

Journal:

Year:

2012

Language:

english

File:

PDF, 2.14 MB

english, 2012

89

Déficit en décarboxylase des acides amines aromatiques (AADC) chez dix patients français : particularités phénotypiques

Spitz, M.-A., Nguyen, M.-A., Ogier, H., Roche, S., Garcia, N., Roze, E., Gras, D., De Pontual, L., Heron, B., Milh, M., Chabrol, B., Cano, A., Bahi-Buisson, N., Desguerre, I., De Lonlay, P., Lion-Fran

Journal:

Archives de Pédiatrie

Year:

2013

Language:

french

File:

PDF, 53 KB

french, 2013

90

Severe and Progressive Fetal Ventriculomegaly Leading to the Diagnosis of Periventricular Nodular Heterotopias with Good Outcome

Fluss, Joel, Pellegrinelli, Jean-Marie, Fokstuen, Siv, Moutard, Marie-Laure, Garel, Catherine, Bahi-Buisson, Nadia, Bilieux, Marie-Hélène, Hanquinet, Sylviane

Journal:

Neuropediatrics

Year:

2015

Language:

english

File:

PDF, 121 KB

english, 2015

91

MeCP2 deficiency is associated with impaired microtubule stability

Delépine, Chloé, Nectoux, Juliette, Bahi-Buisson, Nadia, Chelly, Jamel, Bienvenu, Thierry

Journal:

Year:

2013

Language:

english

File:

PDF, 1.28 MB

english, 2013

92

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

Bahi-Buisson, N., Poirier, K., Fourniol, F., Saillour, Y., Valence, S., Lebrun, N., Hully, M., Fallet Bianco, C., Boddaert, N., Elie, C., Lascelles, K., Souville, I., Beldjord, C., Chelly, J.

Journal:

Year:

2014

Language:

english

File:

PDF, 1.80 MB

english, 2014

93

Actualités sur la génétique des retards mentaux liés au chromosome X

Bahi-Buisson, N., Chelly, J., des Portes, V.

Journal:

Revue Neurologique

Year:

2006

Language:

french

File:

PDF, 229 KB

french, 2006

94

Long term response to steroid therapy in Rasmussen encephalitis

N. Bahi-Buisson, V. Villanueva, C. Bulteau, O. Delalande, O. Dulac, C. Chiron, R. Nabbout

Journal:

Year:

2007

Language:

english

File:

PDF, 118 KB

english, 2007

95

Spectroscopie du cervelet dans les deficits de la chaine respiratoire mitochondriale

Boddaert, N., Romano, S., Valayannopoulos, V., Desguerre, V., Rio, M., Bahi-Buisson, N., Rötig, A., Brunelle, F., Munnich, A., de Lonlay, P.

Journal:

Journal de Radiologie

Year:

2007

Language:

french

File:

PDF, 273 KB

french, 2007

96

Myoclonus-dystonia: Clinical and electrophysiologic pattern related to SGCE mutations

Roze, E., Apartis, E., Clot, F., Dorison, N., Thobois, S., Guyant-Marechal, L., Tranchant, C., Damier, P., Doummar, D., Bahi-Buisson, N., Andre-Obadia, N., Maltete, D., Echaniz-Laguna, A., Pereon, Y.,

Journal:

Year:

2008

Language:

english

File:

PDF, 967 KB

english, 2008

97

Transition issues for children with diffuse cortical malformations, multifocal postnatal lesions, (infectious and traumatic) and Lennox-Gastaut and similar syndromes

Camfield, Peter R., Bahi-Buisson, Nadia, Trinka, Eugen

Journal:

Year:

2014

Language:

english

File:

PDF, 110 KB

english, 2014

98

Avancées actuelles sur les concepts pathogéniques et thérapeutiques de l’encéphalite de Rasmussen

Bahi-Buisson, N., Nabbout, R., Plouin, P., Bulteau, C., Delalande, O., Hertz Pannier, L., Dulac, O., Chiron, C.

Journal:

Revue Neurologique

Year:

2005

Language:

french

File:

PDF, 659 KB

french, 2005

99

Updating the profile of C-terminal MECP2 deletions in Rett syndrome

Bebbington, A., Percy, A., Christodoulou, J., Ravine, D., Ho, G., Jacoby, P., Anderson, A., Pineda, M., Ben Zeev, B., Bahi-Buisson, N., Smeets, E., Leonard, H.

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 206 KB

english, 2010

100

AFOXG1mutation in a boy with congenital variant of Rett syndrome

Tangui Le Guen, Nadia Bahi-Buisson, Juliette Nectoux, Nathalie Boddaert, Yann Fichou, Bertrand Diebold, Isabelle Desguerre, Florence Raqbi, Valérie Cormier Daire, Jamel Chelly, Thierry Bienvenu

Journal:

Year:

2011

Language:

english

File:

PDF, 264 KB

english, 2011

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