Works by Lossos, Alexander

Results: 50
    1

    Deep Intronic GBE1 Mutation in Manifesting Heterozygous Patients With Adult Polyglucosan Body Disease.

    Published in:
    JAMA Neurology, 2015, v. 72, n. 4, p. 441, doi. 10.1001/jamaneurol.2014.4496
    By:
    • Akman, H. Orhan;
    • Kakhlon, Or;
    • Coku, Jorida;
    • Peverelli, Lorenzo;
    • Rosenmann, Hanna;
    • Rozenstein-Tsalkovich, Lea;
    • Turnbull, Julie;
    • Meiner, Vardiella;
    • Chama, Liat;
    • Lerer, Israela;
    • Shpitzen, Shoshi;
    • Leitersdorf, Eran;
    • Paradas, Carmen;
    • Wallace, Mary;
    • Schiffmann, Raphael;
    • DiMauro, Salvatore;
    • Lossos, Alexander;
    • Minassian, Berge A.
    Publication type:
    Article
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    Severe Methylenetetrahydrofolate Reductase Deficiency Clinical Clues to a Potentially Treatable Cause of Adult-Onset Hereditary Spastic Paraplegia.

    Published in:
    JAMA Neurology, 2014, v. 71, n. 7, p. 901, doi. 10.1001/jamaneurol.2014.116
    By:
    • Lossos, Alexander;
    • Teltsh, Omri;
    • Milman, Tsipi;
    • Meiner, Vardiella;
    • Rozen, Rima;
    • Leclerc, Daniel;
    • Schwahn, Bernd C.;
    • Karp, Natalya;
    • Rosenblatt, David S.;
    • Watkins, David;
    • Shaag, Avraham;
    • Korman, Stanley H.;
    • Heyman, Samuel N.;
    • Gal, Aya;
    • Newman, J. P.;
    • Steiner-Birmanns, Bettina;
    • Abramsky, Oded;
    • Kohn, Yoav
    Publication type:
    Article
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    Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.

    Published in:
    Annals of Neurology, 2022, v. 92, n. 2, p. 304, doi. 10.1002/ana.26381
    By:
    • Calame, Daniel G.;
    • Herman, Isabella;
    • Maroofian, Reza;
    • Marshall, Aren E.;
    • Donis, Karina Carvalho;
    • Fatih, Jawid M.;
    • Mitani, Tadahiro;
    • Du, Haowei;
    • Grochowski, Christopher M.;
    • Sousa, Sergio B.;
    • Gijavanekar, Charul;
    • Bakhtiari, Somayeh;
    • Ito, Yoko A.;
    • Rocca, Clarissa;
    • Hunter, Jill V.;
    • Sutton, V. Reid;
    • Emrick, Lisa T.;
    • Boycott, Kym M.;
    • Lossos, Alexander;
    • Fellig, Yakov
    Publication type:
    Article
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    Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 115, doi. 10.1007/s10545-015-9860-6
    By:
    • Huemer, Martina;
    • Mulder-Bleile, Regina;
    • Burda, Patricie;
    • Froese, D.;
    • Suormala, Terttu;
    • Zeev, Bruria;
    • Chinnery, Patrick;
    • Dionisi-Vici, Carlo;
    • Dobbelaere, Dries;
    • Gökcay, Gülden;
    • Demirkol, Mübeccel;
    • Häberle, Johannes;
    • Lossos, Alexander;
    • Mengel, Eugen;
    • Morris, Andrew;
    • Niezen-Koning, Klary;
    • Plecko, Barbara;
    • Parini, Rossella;
    • Rokicki, Dariusz;
    • Schiff, Manuel
    Publication type:
    Article
    8

    Genetical and epigenetical profiling identifies two subgroups of pineal parenchymal tumors of intermediate differentiation (PPTID) with distinct molecular, histological and clinical characteristics.

    Published in:
    Acta Neuropathologica, 2023, v. 146, n. 6, p. 853, doi. 10.1007/s00401-023-02638-1
    By:
    • Rahmanzade, Ramin;
    • Pfaff, Elke;
    • Banan, Rouzbeh;
    • Sievers, Philipp;
    • Suwala, Abigail K.;
    • Hinz, Felix;
    • Bogumil, Henri;
    • Cherkezov, Asan;
    • Kaan, Aras Fuat;
    • Schrimpf, Daniel;
    • Friedel, Dennis;
    • Göbel, Kirsten;
    • Keller, Felix;
    • Saenz-Sardà, Xavier;
    • Lossos, Alexander;
    • Sill, Martin;
    • Witt, Olaf;
    • Sakowitz, Oliver W.;
    • Korshunov, Andrey;
    • Reuss, David E.
    Publication type:
    Article
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    Leptomeningeal metastases from solid tumors.

    Published in:
    Cancer (0008543X), 1998, v. 82, n. 9, p. 1756, doi. 10.1002/(SICI)1097-0142(19980501)82:9<1764::AID-CNCR24>3.0.CO;2-1
    By:
    • Bokstein, Felix;
    • Lossos, Alexander;
    • Siegal, Tali
    Publication type:
    Article
    17

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

    Published in:
    Nature Genetics, 2007, v. 39, n. 3, p. 366, doi. 10.1038/ng1980
    By:
    • Stevanin, Giovanni;
    • Santorelli, Filippo M.;
    • Azzedine, Hamid;
    • Coutinho, Paula;
    • Chomilier, Jacques;
    • Denora, Paola S.;
    • Martin, Elodie;
    • Ouvrard-Hernandez, Anne-Marie;
    • Tessa, Alessandra;
    • Bouslam, Naïma;
    • Lossos, Alexander;
    • Charles, Perrine;
    • Loureiro, José L.;
    • Elleuch, Nizar;
    • Confavreux, Christian;
    • Cruz, Vítor T.;
    • Ruberg, Merle;
    • Leguern, Eric;
    • Grid, Djamel;
    • Tazir, Meriem
    Publication type:
    Article
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    European Association of Neuro-Oncology (EANO) guidelines for treatment of primary central nervous system lymphoma (PCNSL).

    Published in:
    Neuro-Oncology, 2023, v. 25, n. 1, p. 37, doi. 10.1093/neuonc/noac196
    By:
    • Hoang-Xuan, Khê;
    • Deckert, Martina;
    • Ferreri, Andrés J M;
    • Furtner, Julia;
    • Perez-Larraya, Jaime Gallego;
    • Henriksson, Roger;
    • Hottinger, Andreas F;
    • Kasenda, Benjamin;
    • Lefranc, Florence;
    • Lossos, Alexander;
    • McBain, Catherine;
    • Preusser, Matthias;
    • Roth, Patrick;
    • Rudà, Roberta;
    • Schlegel, Uwe;
    • Soffietti, Riccardo;
    • Soussain, Carole;
    • Taphoorn, Martin J B;
    • Touitou, Valérie;
    • Weller, Michael
    Publication type:
    Article
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    Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

    Published in:
    Brain: A Journal of Neurology, 2008, v. 131, n. 3, p. 772, doi. 10.1093/brain/awm293
    By:
    • Giovanni Stevanin;
    • Hamid Azzedine;
    • Paola Denora;
    • Amir Boukhris;
    • Meriem Tazir;
    • Alexander Lossos;
    • Alberto Luis Rosa;
    • Israela Lerer;
    • Abdelmadjid Hamri;
    • Paulo Alegria;
    • José Loureiro;
    • Masayoshi Tada;
    • Didier Hannequin;
    • Mathieu Anheim;
    • Cyril Goizet;
    • Victoria Gonzalez-Martinez;
    • Isabelle Le Ber;
    • Sylvie Forlani;
    • Kiyoshi Iwabuchi;
    • Vardiela Meiner
    Publication type:
    Article
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    Frequent misdiagnosis of adult polyglucosan body disease.

    Published in:
    Journal of Neurology, 2015, v. 262, n. 10, p. 2346, doi. 10.1007/s00415-015-7859-4
    By:
    • Hellmann, Mark;
    • Kakhlon, Or;
    • Landau, Ezekiel;
    • Sadeh, Menachem;
    • Giladi, Nir;
    • Schlesinger, Ilana;
    • Kidron, Daphne;
    • Abramsky, Oded;
    • Reches, Avinoam;
    • Argov, Zohar;
    • Rabey, Jose;
    • Chapman, Joab;
    • Rosenmann, Hanna;
    • Gal, Aya;
    • Moshe Gomori, J.;
    • Meiner, Vardiella;
    • Lossos, Alexander
    Publication type:
    Article
    28

    Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.

    Published in:
    Journal of Neurology, 2014, v. 261, n. 11, p. 2165, doi. 10.1007/s00415-014-7457-x
    By:
    • Halevy, Ayelet;
    • Lerer, Israela;
    • Cohen, Rony;
    • Kornreich, Liora;
    • Shuper, Avinoam;
    • Gamliel, Moria;
    • Zimerman, Bat-El;
    • Korabi, Isam;
    • Meiner, Vardiella;
    • Straussberg, Rachel;
    • Lossos, Alexander
    Publication type:
    Article
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    Neurologic complications of immune checkpoint inhibitors.

    Published in:
    Journal of Neuro-Oncology, 2018, v. 137, n. 3, p. 601, doi. 10.1007/s11060-018-2752-5
    By:
    • Fellner, Avi;
    • Makranz, Chen;
    • Lotem, Michal;
    • Bokstein, Felix;
    • Taliansky, Alisa;
    • Rosenberg, Shai;
    • Blumenthal, Deborah T.;
    • Mandel, Jacob;
    • Fichman, Suzana;
    • Kogan, Elena;
    • Steiner, Israel;
    • Siegal, Tali;
    • Lossos, Alexander;
    • Yust-Katz, Shlomit
    Publication type:
    Article
    31

    Neurological misdiagnoses of lymphoma.

    Published in:
    Neurological Sciences, 2021, v. 42, n. 5, p. 1933, doi. 10.1007/s10072-020-04724-8
    By:
    • Makranz, Chen;
    • Arkadir, David;
    • Nachmias, Boaz;
    • Gatt, Moshe E.;
    • Eliahou, Ruth;
    • Atlan, Karine;
    • Mordechai, Anat;
    • Goldshmit, Netta;
    • Lossos, Alexander
    Publication type:
    Article
    32

    MYORG is associated with recessive primary familial brain calcification.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 1, p. 106, doi. 10.1002/acn3.684
    By:
    • Arkadir, David;
    • Lossos, Alexander;
    • Rahat, Dolev;
    • Abu Snineh, Muneer;
    • Schueler‐Furman, Ora;
    • Nitschke, Silvia;
    • Minassian, Berge A.;
    • Sadaka, Yair;
    • Lerer, Israela;
    • Tabach, Yuval;
    • Meiner, Vardiella
    Publication type:
    Article
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    Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 6, p. 801, doi. 10.1038/ejhg.2013.250
    By:
    • Tajsharghi, Homa;
    • Hammans, Simon;
    • Lindberg, Christopher;
    • Lossos, Alexander;
    • Clarke, Nigel F;
    • Mazanti, Ingrid;
    • Waddell, Leigh B;
    • Fellig, Yakov;
    • Foulds, Nicola;
    • Katifi, Haider;
    • Webster, Richard;
    • Raheem, Olayinka;
    • Udd, Bjarne;
    • Argov, Zohar;
    • Oldfors, Anders
    Publication type:
    Article
    36

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

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 6, p. 645, doi. 10.1038/ejhg.2011.261
    By:
    • Klebe, Stephan;
    • Lossos, Alexander;
    • Azzedine, Hamid;
    • Mundwiller, Emeline;
    • Sheffer, Ruth;
    • Gaussen, Marion;
    • Marelli, Cecilia;
    • Nawara, Magdalena;
    • Carpentier, Wassila;
    • Meyer, Vincent;
    • Rastetter, Agnès;
    • Martin, Elodie;
    • Bouteiller, Delphine;
    • Orlando, Laurent;
    • Gyapay, Gabor;
    • El-Hachimi, Khalid H;
    • Zimmerman, Batel;
    • Gamliel, Moriya;
    • Misk, Adel;
    • Lerer, Israela
    Publication type:
    Article
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    Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism.

    Published in:
    EMBO Molecular Medicine, 2021, v. 13, n. 10, p. 1, doi. 10.15252/emmm.202114554
    By:
    • Kakhlon, Or;
    • Vaknin, Hilla;
    • Mishra, Kumudesh;
    • D'Souza, Jeevitha;
    • Marisat, Monzer;
    • Sprecher, Uri;
    • Wald-Altman, Shane;
    • Dukhovny, Anna;
    • Raviv, Yuval;
    • Da'adoosh, Benny;
    • Engel, Hamutal;
    • Benhamron, Sandrine;
    • Nitzan, Keren;
    • Sweetat, Sahar;
    • Permyakova, Anna;
    • Mordechai, Anat;
    • Akman, Hasan Orhan;
    • Rosenmann, Hanna;
    • Lossos, Alexander;
    • Tam, Joseph
    Publication type:
    Article
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    Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.

    Published in:
    Neurogenetics, 2007, v. 8, n. 4, p. 307, doi. 10.1007/s10048-007-0097-x
    By:
    • Elleuch, Nizar;
    • Bouslam, Naima;
    • Hanein, Sylvain;
    • Lossos, Alexander;
    • Hamri, Abdelmadjid;
    • Klebe, Stephan;
    • Meiner, Vardiella;
    • Birouk, Nezha;
    • Lerer, Israela;
    • Grid, Djamel;
    • Bacq, Delphine;
    • Tazir, Meriem;
    • Zelenika, Diana;
    • Argov, Zohar;
    • Durr, Alexandra;
    • Yahyaoui, Mohamed;
    • Benomar, Ali;
    • Brice, Alexis;
    • Stevanin, Giovanni
    Publication type:
    Article
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