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Early clinical heterogeneity in choreoacanthocytosis.
Lossos A, Dobson-Stone C, Monaco AP, Soffer D, Rahamim E, Newman JP, Mohiddin S, Fananapazir L, Lerer I, Linetsky E, Reches A, Argov Z, Abramsky O, Gadoth N, Sadeh M, Gomori JM, Boher M, Meiner V. Lossos A, et al. Among authors: meiner v. Arch Neurol. 2005 Apr;62(4):611-4. doi: 10.1001/archneur.62.4.611. Arch Neurol. 2005. PMID: 15824261
Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.
Halevy A, Lerer I, Cohen R, Kornreich L, Shuper A, Gamliel M, Zimerman BE, Korabi I, Meiner V, Straussberg R, Lossos A. Halevy A, et al. Among authors: meiner v. J Neurol. 2014 Nov;261(11):2165-9. doi: 10.1007/s00415-014-7457-x. Epub 2014 Aug 23. J Neurol. 2014. PMID: 25149867
Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.
Lossos A, Stümpfig C, Stevanin G, Gaussen M, Zimmerman BE, Mundwiller E, Asulin M, Chamma L, Sheffer R, Misk A, Dotan S, Gomori JM, Ponger P, Brice A, Lerer I, Meiner V, Lill R. Lossos A, et al. Among authors: meiner v. Neurology. 2015 Feb 17;84(7):659-67. doi: 10.1212/WNL.0000000000001270. Epub 2015 Jan 21. Neurology. 2015. PMID: 25609768
Multi-system neurological disorder associated with a CRYAB variant.
Sadeh M, Rahat D, Meiner V, Fellig Y, Arad M, Schueler-Furman O, Hu Y, Li Y, Bönnemann CG, Lossos A. Sadeh M, et al. Among authors: meiner v. Neurogenetics. 2021 May;22(2):117-125. doi: 10.1007/s10048-021-00640-x. Epub 2021 Apr 3. Neurogenetics. 2021. PMID: 33811585
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.
Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S, Saunier S, Salomon R, Gonzales M, Rattenberry E, Esculpavit C, Toutain A, Moraine C, Parent P, Marcorelles P, Dauge MC, Roume J, Le Merrer M, Meiner V, Meir K, Menez F, Beaufrère AM, Francannet C, Tantau J, Sinico M, Dumez Y, MacDonald F, Munnich A, Lyonnet S, Gubler MC, Génin E, Johnson CA, Vekemans M, Encha-Razavi F, Attié-Bitach T. Baala L, et al. Among authors: meiner v. Am J Hum Genet. 2007 Jul;81(1):170-9. doi: 10.1086/519494. Epub 2007 Jun 4. Am J Hum Genet. 2007. PMID: 17564974 Free PMC article.
147 results