Bahi-Buisson N - Search Results

1

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.

Megahed H, Nicouleau M, Barcia G, Medina-Cano D, Siquier-Pernet K, Bole-Feysot C, Parisot M, Masson C, Nitschké P, Rio M, Bahi-Buisson N, Desguerre I, Munnich A, Boddaert N, Colleaux L, Cantagrel V. Megahed H, et al. Orphanet J Rare Dis. 2016 May 4;11(1):57. doi: 10.1186/s13023-016-0436-9. Orphanet J Rare Dis. 2016. PMID: 27146152 Free PMC article.

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

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.

4

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.

5

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

6

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

7

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

8

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

9

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.

10

Unusual magnetic resonance imaging features in Menkes disease.

Barnerias C, Boddaert N, Guiraud P, Desguerre I, Hertz Pannier L, Dulac O, de Lonlay P, Bahi Buisson N. Barnerias C, et al. Brain Dev. 2008 Aug;30(7):489-92. doi: 10.1016/j.braindev.2007.12.014. Epub 2008 Feb 19. Brain Dev. 2008. PMID: 18243619

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