Sablonnière B - Search Results

1

Insights into genotype-phenotype correlations in spinal muscular atrophy: a retrospective study of 103 patients.

Petit F, Cuisset JM, Rouaix-Emery N, Cancés C, Sablonnière B, Bieth E, Moerman A, Sukno S, Hardy N, Holder-Espinasse M, Manouvrier-Hanu S, Vallée L. Petit F, et al. Among authors: sablonniere b. Muscle Nerve. 2011 Jan;43(1):26-30. doi: 10.1002/mus.21832. Muscle Nerve. 2011. PMID: 21171094

2

Epilepsia partialis continua and defects in the mitochondrial respiratory chain.

Riquet A, Auvin S, Cuisset JM, Lamblin MD, Sablonnière B, Cuvellier JC, Soto-Ares G, Maurage CA, Vallée L. Riquet A, et al. Among authors: sablonniere b. Epilepsy Res. 2008 Jan;78(1):1-6. doi: 10.1016/j.eplepsyres.2007.10.001. Epub 2007 Nov 26. Epilepsy Res. 2008. PMID: 18022351

3

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.

Ghoumid J, Andrieux J, Sablonnière B, Odent S, Philippe N, Zanlonghi X, Saugier-Veber P, Bardyn T, Manouvrier-Hanu S, Holder-Espinasse M. Ghoumid J, et al. Among authors: sablonniere b. Eur J Hum Genet. 2011 Nov;19(11):1198-201. doi: 10.1038/ejhg.2011.95. Epub 2011 Jun 8. Eur J Hum Genet. 2011. PMID: 21654727 Free PMC article.

4

Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy.

Huin V, Strubi-Vuillaume I, Dujardin K, Brion M, Delliaux M, Dellacherie D, Cuvellier JC, Cuisset JM, Riquet A, Moreau C, Defebvre L, Sablonnière B, Devos D. Huin V, et al. Among authors: sablonniere b. Parkinsonism Relat Disord. 2017 Dec;45:85-89. doi: 10.1016/j.parkreldis.2017.09.014. Epub 2017 Sep 19. Parkinsonism Relat Disord. 2017. PMID: 28947073 Free article.

5

New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes.

Devos D, Vuillaume I, de Becdelievre A, de Martinville B, Dhaenens CM, Cuvellier JC, Cuisset JM, Vallée L, Lemaitre MP, Bourteel H, Hachulla E, Wallaert B, Destée A, Defebvre L, Sablonnière B. Devos D, et al. Among authors: sablonniere b. Mov Disord. 2006 Dec;21(12):2237-40. doi: 10.1002/mds.21135. Mov Disord. 2006. PMID: 17044090

6

GUG is an efficient initiation codon to translate the human mitochondrial ATP6 gene.

Dubot A, Godinot C, Dumur V, Sablonnière B, Stojkovic T, Cuisset JM, Vojtiskova A, Pecina P, Jesina P, Houstek J. Dubot A, et al. Among authors: sablonniere b. Biochem Biophys Res Commun. 2004 Jan 16;313(3):687-93. doi: 10.1016/j.bbrc.2003.12.013. Biochem Biophys Res Commun. 2004. PMID: 14697245

7

The first identified French family with dentatorubral-pallidoluysian atrophy.

Destée A, Delalande I, Vuillaume I, Schraen-Maschke S, Defebvre L, Sablonnière B. Destée A, et al. Among authors: sablonniere b. Mov Disord. 2000 Sep;15(5):996-9. doi: 10.1002/1531-8257(200009)15:5<996::aid-mds1036>3.0.co;2-9. Mov Disord. 2000. PMID: 11009212

8

Absence of unidentified CAG repeat expansion in patients with Huntington's disease-like phenotype.

Vuillaume I, Meynieu P, Schraen-Maschke S, Destée A, Sablonnière B. Vuillaume I, et al. Among authors: sablonniere b. J Neurol Neurosurg Psychiatry. 2000 May;68(5):672-5. doi: 10.1136/jnnp.68.5.672. J Neurol Neurosurg Psychiatry. 2000. PMID: 10766906 Free PMC article.

9

'Absence of T378N mutation of ATP1A2 gene in five patients with alternating hemiplegia of childhood'.

Boileau S, Vuillaume I, Sablonnière B, Marignier S, Des Portes V, Vallée L, Auvin S. Boileau S, et al. Among authors: sablonniere b. Dev Med Child Neurol. 2008 Nov;50(11):879-80. doi: 10.1111/j.1469-8749.2008.03111.x. Epub 2008 Sep 20. Dev Med Child Neurol. 2008. PMID: 18811707 Free article. No abstract available.

10

Spinocerebellar ataxia: a rational approach to aetiological diagnosis.

Degardin A, Dobbelaere D, Vuillaume I, Defoort-Dhellemmes S, Hurtevent JF, Sablonnière B, Destée A, Defebvre L, Devos D. Degardin A, et al. Among authors: sablonniere b. Cerebellum. 2012 Mar;11(1):289-99. doi: 10.1007/s12311-011-0310-1. Cerebellum. 2012. PMID: 21892625

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