Bahi-Buisson N - Search Results

1

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

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, de Lonlay P. Boddaert N, et al. Mol Genet Metab. 2008 Jan;93(1):85-8. doi: 10.1016/j.ymgme.2007.09.003. Epub 2007 Oct 22. Mol Genet Metab. 2008. PMID: 17950645

2

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

Bahi-Buisson N, Kossorotoff M, Barnerias C, Boddaert N, Bourgeois M, Dulac O, Plouin P, Chiron C, Hertz-Pannier L. Bahi-Buisson N, et al. Dev Med Child Neurol. 2005 Dec;47(12):830-4. doi: 10.1017/S0012162205001751. Dev Med Child Neurol. 2005. PMID: 16288674 Free article.

3

[Neonatal epilepsy and inborn errors of metabolism].

Bahi-Buisson N, Mention K, Léger PL, Valayanopoulos V, Nabbout R, Kaminska A, Plouin P, Dulac O, de Lonlay P, Desguerre I. Bahi-Buisson N, et al. Arch Pediatr. 2006 Mar;13(3):284-92. doi: 10.1016/j.arcped.2005.10.024. Epub 2005 Dec 15. Arch Pediatr. 2006. PMID: 16343871 Review. French.

4

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.

Barnérias C, Giurgea I, Hertz-Pannier L, Bahi-Buisson N, Boddaert N, Rustin P, Rotig A, Desguerre I, Munnich A, de Lonlay P. Barnérias C, et al. Dev Med Child Neurol. 2006 Mar;48(3):227-30. doi: 10.1017/S001216220600048X. Dev Med Child Neurol. 2006. PMID: 16483401 Free article.

5

Epilepsy in Menkes disease: analysis of clinical stages.

Bahi-Buisson N, Kaminska A, Nabbout R, Barnerias C, Desguerre I, De Lonlay P, Mayer M, Plouin P, Dulac O, Chiron C. Bahi-Buisson N, et al. Epilepsia. 2006 Feb;47(2):380-6. doi: 10.1111/j.1528-1167.2006.00432.x. Epilepsia. 2006. PMID: 16499764 Free article.

6

Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.

Romano S, Boddaert N, Desguerre I, Hubert L, Salomon R, Seidenwurm D, Bahi-Buisson N, Nabbout R, Sonigo P, Lyonnet S, Brunelle F, Munnich A, de Lonlay P. Romano S, et al. Neuropediatrics. 2006 Feb;37(1):42-5. doi: 10.1055/s-2006-923838. Neuropediatrics. 2006. PMID: 16541367

7

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. Nabbout R, et al. Neurology. 2007 Apr 24;68(17):1374-81. doi: 10.1212/01.wnl.0000260062.02829.e3. Neurology. 2007. PMID: 17452582

8

Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2.

Bahi-Buisson N, Eisermann M, Nivot S, Bellanné-Chantelot C, Dulac O, Bach N, Plouin P, Chiron C, de Lonlay P. Bahi-Buisson N, et al. J Child Neurol. 2007 Sep;22(9):1147-50. doi: 10.1177/0883073807306272. J Child Neurol. 2007. PMID: 17890419

9

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

Arnoux JB, Boddaert N, Valayannopoulos V, Romano S, Bahi-Buisson N, Desguerre I, de Keyzer Y, Munnich A, Brunelle F, Seta N, Dautzenberg MD, de Lonlay P. Arnoux JB, et al. Mol Genet Metab. 2008 Apr;93(4):444-9. doi: 10.1016/j.ymgme.2007.11.006. Epub 2008 Feb 21. Mol Genet Metab. 2008. PMID: 18093857

10

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

Desguerre I, Marti I, Valayannopoulos V, Bahi-Buisson N, Dulac O, Plouin P, Delonlay P, Hertz-Pannier L, Boddaert N. Desguerre I, et al. Dev Med Child Neurol. 2008 Feb;50(2):112-6. doi: 10.1111/j.1469-8749.2007.02017.x. Dev Med Child Neurol. 2008. PMID: 18201300 Free article.

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