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    Results: 1 to 20 of 73

    1.

    Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase.

    Kakhlon O, Glickstein H, Feinstein N, Liu Y, Baba O, Terashima T, Akman HO, Dimauro S, Lossos A.

    J Neurochem. 2013 Apr 23. doi: 10.1111/jnc.12277. [Epub ahead of print]

    PMID:
    23607684
    [PubMed - as supplied by publisher]
    2.

    MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12.

    Lossos A, Oldfors A, Fellig Y, Meiner V, Argov Z, Tajsharghi H.

    Brain. 2013 Feb 6. [Epub ahead of print] No abstract available.

    PMID:
    23388406
    [PubMed - as supplied by publisher]
    3.

    Clinical and genetic findings in eight Israeli patients with transthyretin-associated familial amyloid polyneuropathy.

    Leibou L, Frand J, Sadeh M, Lossos A, Kremer E, Livneh A, Yarnitsky D, Herman O, Dabby R.

    Isr Med Assoc J. 2012 Nov;14(11):662-5.

    PMID:
    23240369
    [PubMed - indexed for MEDLINE]
    Free Article
    4.

    Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.

    Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, Lubetzki C, Durr A, Brice A, Rosenmann H, Barash V, Kakhlon O, Gomori JM, van der Knaap MS, Lossos A.

    Ann Neurol. 2012 Sep;72(3):433-41. doi: 10.1002/ana.23598.

    PMID:
    23034915
    [PubMed - indexed for MEDLINE]
    5.

    Aggressive leptomeningeal gliomatosis in neurofibromatosis type 1.

    Arkadir D, Fellig Y, Gomori MJ, Linetsky E, Shalom E, Lossos A.

    J Clin Oncol. 2012 Sep 20;30(27):e269-70. doi: 10.1200/JCO.2012.42.1719. Epub 2012 Aug 6. No abstract available.

    PMID:
    22869891
    [PubMed - indexed for MEDLINE]
    6.

    KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.

    Klebe S, Lossos A, Azzedine H, Mundwiller E, Sheffer R, Gaussen M, Marelli C, Nawara M, Carpentier W, Meyer V, Rastetter A, Martin E, Bouteiller D, Orlando L, Gyapay G, El-Hachimi KH, Zimmerman B, Gamliel M, Misk A, Lerer I, Brice A, Durr A, Stevanin G.

    Eur J Hum Genet. 2012 Jun;20(6):645-9. doi: 10.1038/ejhg.2011.261. Epub 2012 Jan 18.

    PMID:
    22258533
    [PubMed - indexed for MEDLINE]
    7.

    Novel use of stenting for temporary endovascular bypass and thrombectomy in major ischemic stroke.

    Cohen JE, Leker RR, Kahana S, Lossos A, Itshayek E.

    Isr Med Assoc J. 2010 Dec;12(12):764-6. No abstract available.

    PMID:
    21348407
    [PubMed - indexed for MEDLINE]
    Free Article
    8.

    Intradural lumbar varix resembling a tumor: case report of a magnetic resonance imaging-based diagnosis.

    Paldor I, Gomori JM, Lossos A, Yatsiv I, Cohen JE, Itshayek E.

    Spine (Phila Pa 1976). 2010 Aug 1;35(17):E864-6. doi: 10.1097/BRS.0b013e3181d6debb.

    PMID:
    20628334
    [PubMed - indexed for MEDLINE]
    9.

    EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

    Gasser T, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Harbo HF; EFNS.

    Eur J Neurol. 2010 Feb;17(2):179-88. doi: 10.1111/j.1468-1331.2009.02873.x. Epub 2009 Dec 28.

    PMID:
    20050888
    [PubMed - indexed for MEDLINE]
    10.

    EFNS guidelines on the molecular diagnosis of mitochondrial disorders.

    Finsterer J, Harbo HF, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Gasser T; European Federation of Neurological Sciences.

    Eur J Neurol. 2009 Dec;16(12):1255-64.

    PMID:
    19950421
    [PubMed - indexed for MEDLINE]
    11.

    [Primary and secondary writing disorders in children].

    Ben-Paz H, Lossos A, Adi-Japha E.

    Harefuah. 2009 Aug;148(8):515-9, 573, 572. Hebrew.

    PMID:
    19899253
    [PubMed - indexed for MEDLINE]
    12.

    EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias.

    Harbo HF, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen C, Zeviani M, Burgunder JM, Gasser T; EFNS.

    Eur J Neurol. 2009 Jul;16(7):777-85. doi: 10.1111/j.1468-1331.2009.02646.x. Epub 2009 May 12. Erratum in: Eur J Neurol. 2010 Feb;17(2):339.

    PMID:
    19469830
    [PubMed - indexed for MEDLINE]
    13.

    A 63-year-old woman with urinary incontinence and progressive gait disorder.

    Lossos A, Klein CJ, McEvoy KM, Keegan BM.

    Neurology. 2009 May 5;72(18):1607-13. doi: 10.1212/WNL.0b013e3181a413fe. No abstract available.

    PMID:
    19414729
    [PubMed - indexed for MEDLINE]
    14.

    Leukoencephalopathy with neuroaxonal spheroids presenting as frontotemporal dementia.

    Levin N, Soffer D, Biran I, Gomori JM, Bocher M, Blumen SC, Abramsky O, Segal R, Lossos A.

    Isr Med Assoc J. 2008 May;10(5):386-7. No abstract available.

    PMID:
    18605367
    [PubMed - indexed for MEDLINE]
    Free Article
    15.

    Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.

    Hanein S, Martin E, Boukhris A, Byrne P, Goizet C, Hamri A, Benomar A, Lossos A, Denora P, Fernandez J, Elleuch N, Forlani S, Durr A, Feki I, Hutchinson M, Santorelli FM, Mhiri C, Brice A, Stevanin G.

    Am J Hum Genet. 2008 Apr;82(4):992-1002. doi: 10.1016/j.ajhg.2008.03.004.

    PMID:
    18394578
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    16.

    Cerebellar T2 hyperintensities in a patient with tremor.

    Sadeh M, Lossos A.

    Neurology. 2008 Feb 12;70(7):578. doi: 10.1212/01.wnl.0000299191.34969.9a. No abstract available.

    PMID:
    18268252
    [PubMed - indexed for MEDLINE]
    17.

    Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

    Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, Rosa AL, Lerer I, Hamri A, Alegria P, Loureiro J, Tada M, Hannequin D, Anheim M, Goizet C, Gonzalez-Martinez V, Le Ber I, Forlani S, Iwabuchi K, Meiner V, Uyanik G, Erichsen AK, Feki I, Pasquier F, Belarbi S, Cruz VT, Depienne C, Truchetto J, Garrigues G, Tallaksen C, Tranchant C, Nishizawa M, Vale J, Coutinho P, Santorelli FM, Mhiri C, Brice A, Durr A; SPATAX consortium.

    Brain. 2008 Mar;131(Pt 3):772-84. Epub 2007 Dec 13.

    PMID:
    18079167
    [PubMed - indexed for MEDLINE]
    Free Article
    18.

    Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.

    Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Vockley J, Berry GT, Lamhonwah AM, Matern D, Roe CR, Gregersen N.

    Mol Genet Metab. 2008 Feb;93(2):179-89. Epub 2007 Dec 3.

    PMID:
    18054510
    [PubMed - indexed for MEDLINE]
    19.

    Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.

    Elleuch N, Bouslam N, Hanein S, Lossos A, Hamri A, Klebe S, Meiner V, Birouk N, Lerer I, Grid D, Bacq D, Tazir M, Zelenika D, Argov Z, Durr A, Yahyaoui M, Benomar A, Brice A, Stevanin G.

    Neurogenetics. 2007 Nov;8(4):307-15. Epub 2007 Jul 28.

    PMID:
    17661097
    [PubMed - indexed for MEDLINE]
    20.

    Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

    Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A, Brice A.

    Nat Genet. 2007 Mar;39(3):366-72. Epub 2007 Feb 18.

    PMID:
    17322883
    [PubMed - indexed for MEDLINE]

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