Amsallem D - Search Results

1

The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus.

Piard J, Béreau M, XiangWei W, Wirth T, Amsallem D, Buisson L, Richard P, Liu N, Xu Y, Myers SJ, Traynelis SF, Chelly J, Anheim M, Raynaud M, Maldergem LV, Yuan H. Piard J, et al. Among authors: amsallem d. Mov Disord. 2020 Jul;35(7):1224-1232. doi: 10.1002/mds.28058. Epub 2020 May 5. Mov Disord. 2020. PMID: 32369665 Free PMC article.

2

DYRK1A mutations in two unrelated patients.

Ruaud L, Mignot C, Guët A, Ohl C, Nava C, Héron D, Keren B, Depienne C, Benoit V, Maystadt I, Lederer D, Amsallem D, Piard J. Ruaud L, et al. Among authors: amsallem d. Eur J Med Genet. 2015 Mar;58(3):168-74. doi: 10.1016/j.ejmg.2014.12.014. Epub 2015 Jan 30. Eur J Med Genet. 2015. PMID: 25641759

3

The Largest Germline Heterozygous Deletion Encompassing Potocki-Shaffer and WAGR Syndromes Loci to Date: A Case Report.

Delplancq G, Boukebir MA, Amsallem D, Thines L, Rozé V, Dahlen E, Van Maldergem L, Kuentz P. Delplancq G, et al. Among authors: amsallem d. Neuropediatrics. 2022 Aug;53(4):274-278. doi: 10.1055/s-0041-1740357. Epub 2021 Dec 8. Neuropediatrics. 2022. PMID: 34879425

4

Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.

Allou L, Julia S, Amsallem D, El Chehadeh S, Lambert L, Thevenon J, Duffourd Y, Saunier A, Bouquet P, Pere S, Moustaïne A, Ruaud L, Roth V, Jonveaux P, Philippe C. Allou L, et al. Among authors: amsallem d. Clin Genet. 2017 Mar;91(3):431-440. doi: 10.1111/cge.12784. Epub 2016 May 11. Clin Genet. 2017. PMID: 27062609

5

Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females.

Philippe C, Amsallem D, Francannet C, Lambert L, Saunier A, Verneau F, Jonveaux P. Philippe C, et al. Among authors: amsallem d. J Med Genet. 2010 Jan;47(1):59-65. doi: 10.1136/jmg.2009.067355. Epub 2009 Jun 29. J Med Genet. 2010. PMID: 19564653

6

RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes.

Valence S, Garel C, Barth M, Toutain A, Paris C, Amsallem D, Barthez MA, Mayer M, Rodriguez D, Burglen L. Valence S, et al. Among authors: amsallem d. Clin Genet. 2016 Dec;90(6):545-549. doi: 10.1111/cge.12779. Epub 2016 Apr 29. Clin Genet. 2016. PMID: 27000652

7

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.

Allou L, Lambert L, Amsallem D, Bieth E, Edery P, Destrée A, Rivier F, Amor D, Thompson E, Nicholl J, Harbord M, Nemos C, Saunier A, Moustaïne A, Vigouroux A, Jonveaux P, Philippe C. Allou L, et al. Among authors: amsallem d. Eur J Hum Genet. 2012 Dec;20(12):1216-23. doi: 10.1038/ejhg.2012.127. Epub 2012 Jun 27. Eur J Hum Genet. 2012. PMID: 22739344 Free PMC article.

8

A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients.

Bourdon V, Philippe C, Labrune O, Amsallem D, Arnould C, Jonveaux P. Bourdon V, et al. Among authors: amsallem d. Hum Genet. 2001 Jan;108(1):43-50. doi: 10.1007/s004390000422. Hum Genet. 2001. PMID: 11214906

9

Vertebral-artery dissection following a judo session: a case report.

Lannuzel A, Moulin T, Amsallem D, Galmiche J, Rumbach L. Lannuzel A, et al. Among authors: amsallem d. Neuropediatrics. 1994 Apr;25(2):106-8. doi: 10.1055/s-2008-1071595. Neuropediatrics. 1994. PMID: 8072674

10

Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.

Kuster A, Arnoux JB, Barth M, Lamireau D, Houcinat N, Goizet C, Doray B, Gobin S, Schiff M, Cano A, Amsallem D, Barnerias C, Chaumette B, Plaze M, Slama A, Ioos C, Desguerre I, Lebre AS, de Lonlay P, Christa L; Individual contributors who contributed to this work. Kuster A, et al. Among authors: amsallem d. J Inherit Metab Dis. 2018 Jan;41(1):129-139. doi: 10.1007/s10545-017-0079-6. Epub 2017 Sep 18. J Inherit Metab Dis. 2018. PMID: 28924877

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