Bahi-Buisson N - Search Results

1

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.

Cavallin M, Bery A, Maillard C, Salomon LJ, Bole C, Reilly ML, Nitschké P, Boddaert N, Bahi-Buisson N. Cavallin M, et al. Eur J Med Genet. 2018 Dec;61(12):755-758. doi: 10.1016/j.ejmg.2018.08.001. Epub 2018 Aug 16. Eur J Med Genet. 2018. PMID: 30121372

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

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

5

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

6

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

7

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.

8

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

9

The three stages of epilepsy in patients with CDKL5 mutations.

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, Nabbout R, Bienvenu T. Bahi-Buisson N, et al. Epilepsia. 2008 Jun;49(6):1027-37. doi: 10.1111/j.1528-1167.2007.01520.x. Epub 2008 Feb 7. Epilepsia. 2008. PMID: 18266744 Free article.

10

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

Bahi-Buisson N, El Sabbagh S, Soufflet C, Escande F, Boddaert N, Valayannopoulos V, Bellané-Chantelot C, Lascelles K, Dulac O, Plouin P, de Lonlay P. Bahi-Buisson N, et al. Seizure. 2008 Oct;17(7):658-64. doi: 10.1016/j.seizure.2008.01.005. Epub 2008 Mar 5. Seizure. 2008. PMID: 18321734 Free article.

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