Melki J - Search Results

1

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

Klebe S, Azzedine H, Durr A, Bastien P, Bouslam N, Elleuch N, Forlani S, Charon C, Koenig M, Melki J, Brice A, Stevanin G. Klebe S, et al. Among authors: melki j. Brain. 2006 Jun;129(Pt 6):1456-62. doi: 10.1093/brain/awl012. Epub 2006 Jan 24. Brain. 2006. PMID: 16434418

2

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.

Goizet C, Boukhris A, Maltete D, Guyant-Maréchal L, Truchetto J, Mundwiller E, Hanein S, Jonveaux P, Roelens F, Loureiro J, Godet E, Forlani S, Melki J, Auer-Grumbach M, Fernandez JC, Martin-Hardy P, Sibon I, Sole G, Orignac I, Mhiri C, Coutinho P, Durr A, Brice A, Stevanin G. Goizet C, et al. Among authors: melki j. Neurology. 2009 Oct 6;73(14):1111-9. doi: 10.1212/WNL.0b013e3181bacf59. Neurology. 2009. PMID: 19805727

3

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.

Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A; Spastic Paraplegia and Ataxia Network. Coutelier M, et al. Among authors: melki j. JAMA Neurol. 2018 May 1;75(5):591-599. doi: 10.1001/jamaneurol.2017.5121. JAMA Neurol. 2018. PMID: 29482223 Free PMC article.

4

Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p.

Hazan J, Fontaine B, Bruyn RP, Lamy C, van Deutekom JC, Rime CS, Dürr A, Melki J, Lyon-Caen O, Agid Y, et al. Hazan J, et al. Among authors: melki j. Hum Mol Genet. 1994 Sep;3(9):1569-73. doi: 10.1093/hmg/3.9.1569. Hum Mol Genet. 1994. PMID: 7833913

5

KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins.

Marchionni E, Méneret A, Keren B, Melki J, Denier C, Durr A, Apartis E, Boespflug-Tanguy O, Mochel F. Marchionni E, et al. Among authors: melki j. Tremor Other Hyperkinet Mov (N Y). 2019 Jul 17;9. doi: 10.7916/tohm.v0.641. eCollection 2019. Tremor Other Hyperkinet Mov (N Y). 2019. PMID: 31413903 Free PMC article.

6

SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.

Hanash A, Leguern E, Birouk N, Clermont O, Pouget J, Bouche P, Munnich A, Brice A, Melki J. Hanash A, et al. Among authors: melki j. J Med Genet. 1997 Jun;34(6):507-8. doi: 10.1136/jmg.34.6.507. J Med Genet. 1997. PMID: 9192274 Free PMC article.

7

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits.

Puccio H, Simon D, Cossée M, Criqui-Filipe P, Tiziano F, Melki J, Hindelang C, Matyas R, Rustin P, Koenig M. Puccio H, et al. Among authors: melki j. Nat Genet. 2001 Feb;27(2):181-6. doi: 10.1038/84818. Nat Genet. 2001. PMID: 11175786

8

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q.

Hazan J, Lamy C, Melki J, Munnich A, de Recondo J, Weissenbach J. Hazan J, et al. Among authors: melki j. Nat Genet. 1993 Oct;5(2):163-7. doi: 10.1038/ng1093-163. Nat Genet. 1993. PMID: 8252041

9

Early-onset chronic axonal neuropathy, strokes, and hemolysis: inherited CD59 deficiency.

Haliloglu G, Maluenda J, Sayinbatur B, Aumont C, Temucin C, Tavil B, Cetin M, Oguz KK, Gut I, Picard V, Melki J, Topaloglu H. Haliloglu G, et al. Among authors: melki j. Neurology. 2015 Mar 24;84(12):1220-4. doi: 10.1212/WNL.0000000000001391. Epub 2015 Feb 25. Neurology. 2015. PMID: 25716358

10

Clinical and genetic heterogeneity of Charcot-Marie-Tooth disease.

Hentati A, Lamy C, Melki J, Zuber M, Munnich A, de Recondo J. Hentati A, et al. Among authors: melki j. Genomics. 1992 Jan;12(1):155-7. doi: 10.1016/0888-7543(92)90419-s. Genomics. 1992. PMID: 1733853

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