Works matching AU Kurian, Manju A.

Results: 99
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    UK research priority setting for childhood neurological conditions.

    Published in:
    Developmental Medicine & Child Neurology, 2024, v. 66, n. 12, p. 1590, doi. 10.1111/dmcn.16021
    By:
    • Cadwgan, Jill;
    • Goodwin, Jane;
    • Babcock, Barbara;
    • Brick, Molly;
    • Chin, Richard;
    • Easton, Ava;
    • Green, Ben;
    • Hannan, Siobhan;
    • Inward, Rhys P. D.;
    • Kinsella, Suzannah;
    • King, Callum;
    • Kurian, Manju A.;
    • Levine, Philip;
    • Mallick, Andrew;
    • Parr, Jeremy;
    • Partridge, Carol Anne;
    • Amin, Sam;
    • Lumsden, Dan;
    • Cross, J. Helen;
    • Lim, Ming J.
    Publication type:
    Article
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    RARS2 mutations in a sibship with infantile spasms.

    Published in:
    Epilepsia (Series 4), 2016, v. 57, n. 5, p. e97, doi. 10.1111/epi.13358
    By:
    • Ngoh, Adeline;
    • Bras, Jose;
    • Guerreiro, Rita;
    • Meyer, Esther;
    • McTague, Amy;
    • Dawson, Eleanor;
    • Mankad, Kshitij;
    • Gunny, Roxana;
    • Clayton, Peter;
    • Mills, Philippa B.;
    • Thornton, Rachel;
    • Lai, Ming;
    • Forsyth, Robert;
    • Kurian, Manju A.
    Publication type:
    Article
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    Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.

    Published in:
    Epilepsia (Series 4), 2012, v. 53, n. 8, p. e146, doi. 10.1111/j.1528-1167.2012.03538.x
    By:
    • Poduri, Annapurna;
    • Chopra, Sameer S.;
    • Neilan, Edward G.;
    • Christina Elhosary, P.;
    • Kurian, Manju A.;
    • Meyer, Esther;
    • Barry, Brenda J.;
    • Khwaja, Omar S.;
    • Salih, Mustafa A. M.;
    • Stödberg, Tommy;
    • Scheffer, Ingrid E.;
    • Maher, Eamonn R.;
    • Sahin, Mustafa;
    • Wu, Bai-Lin;
    • Berry, Gerard T.;
    • Walsh, Christopher A.;
    • Picker, Jonathan;
    • Kothare, Sanjeev V.
    Publication type:
    Article
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    A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism.

    Published in:
    Movement Disorders, 2023, v. 38, n. 4, p. 646, doi. 10.1002/mds.29332
    By:
    • Koens, Lisette H.;
    • Klamer, Marrit R.;
    • Sival, Deborah A.;
    • Balint, Bettina;
    • Bhatia, Kailash P.;
    • Contarino, Maria Fiorella;
    • van Egmond, Martje E.;
    • Erro, Roberto;
    • Friedman, Jennifer;
    • Fung, Victor S.C.;
    • Ganos, Christos;
    • Kurian, Manju A.;
    • Lang, Anthony E.;
    • McGovern, Eavan M.;
    • Roze, Emmanuel;
    • de Koning, Tom J.;
    • Tijssen, Marina A.J.
    Publication type:
    Article
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    Highlighting the Dystonic Phenotype Related to GNAO1.

    Published in:
    Movement Disorders, 2022, v. 37, n. 7, p. 1547, doi. 10.1002/mds.29074
    By:
    • Wirth, Thomas;
    • Garone, Giacomo;
    • Kurian, Manju A.;
    • Piton, Amélie;
    • Millan, Francisca;
    • Telegrafi, Aida;
    • Drouot, Nathalie;
    • Rudolf, Gabrielle;
    • Chelly, Jamel;
    • Marks, Warren;
    • Burglen, Lydie;
    • Demailly, Diane;
    • Coubes, Phillipe;
    • Castro‐Jimenez, Mayte;
    • Joriot, Sylvie;
    • Ghoumid, Jamal;
    • Belin, Jérémie;
    • Faucheux, Jean‐Marc;
    • Blumkin, Lubov;
    • Hull, Mariam
    Publication type:
    Article
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    Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.

    Published in:
    Movement Disorders, 2022, v. 37, n. 1, p. 137, doi. 10.1002/mds.28804
    By:
    • Zech, Michael;
    • Kumar, Kishore R.;
    • Reining, Sophie;
    • Reunert, Janine;
    • Tchan, Michel;
    • Riley, Lisa G.;
    • Drew, Alexander P.;
    • Adam, Robert J.;
    • Berutti, Riccardo;
    • Biskup, Saskia;
    • Derive, Nicolas;
    • Bakhtiari, Somayeh;
    • Jin, Sheng Chih;
    • Kruer, Michael C.;
    • Bardakjian, Tanya;
    • Gonzalez‐Alegre, Pedro;
    • Keller Sarmiento, Ignacio J.;
    • Mencacci, Niccolo E.;
    • Lubbe, Steven J.;
    • Kurian, Manju A.
    Publication type:
    Article
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    A Recurrent VPS16 p.Arg187* Nonsense Variant in Early‐Onset Generalized Dystonia.

    Published in:
    Movement Disorders, 2021, v. 36, n. 8, p. 1984, doi. 10.1002/mds.28647
    By:
    • Ostrozovicova, Miriama;
    • Jech, Robert;
    • Steel, Dora;
    • Pavelekova, Petra;
    • Han, Vladimir;
    • Gdovinova, Zuzana;
    • Lichtner, Peter;
    • Kurian, Manju A.;
    • Wiethoff, Sarah;
    • Houlden, Henry;
    • Havránková, Petra;
    • Winkelmann, Julianne;
    • Zech, Michael;
    • Skorvanek, Matej
    Publication type:
    Article
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    Childhood‐Onset Chorea Caused by a Recurrent De Novo DRD2 Variant.

    Published in:
    Movement Disorders, 2021, v. 36, n. 6, p. 1472, doi. 10.1002/mds.28634
    By:
    • Mencacci, Niccolò E.;
    • Steel, Dora;
    • Magrinelli, Francesca;
    • Hsu, Jerry;
    • Keller Sarmiento, Ignacio Juan;
    • Troncoso Schifferli, Mónica;
    • Muñoz, Daniela;
    • Stefanis, Leonidas;
    • Lubbe, Steven J.;
    • Wood, Nicholas W.;
    • Kurian, Manju A.;
    • Stamelou, Maria
    Publication type:
    Article
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    Childhood-Onset Chorea Caused by a Recurrent De Novo DRD2 Variant.

    Published in:
    2021
    By:
    • Mencacci, Niccolò E.;
    • Steel, Dora;
    • Magrinelli, Francesca;
    • Hsu, Jerry;
    • Keller Sarmiento, Ignacio Juan;
    • Troncoso Schifferli, Mónica;
    • Muñoz, Daniela;
    • Stefanis, Leonidas;
    • Lubbe, Steven J.;
    • Wood, Nicholas W.;
    • Kurian, Manju A.;
    • Stamelou, Maria
    Publication type:
    Letter
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    Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.

    Published in:
    2019
    By:
    • Carecchio, Miryam;
    • Invernizzi, Federica;
    • Gonzàlez‐Latapi, Paulina;
    • Panteghini, Celeste;
    • Zorzi, Giovanna;
    • Romito, Luigi;
    • Leuzzi, Vincenzo;
    • Galosi, Serena;
    • Reale, Chiara;
    • Zibordi, Federica;
    • Joseph, Agnel P.;
    • Topf, Maya;
    • Piano, Carla;
    • Bentivoglio, Anna Rita;
    • Girotti, Floriano;
    • Morana, Paolo;
    • Morana, Benedetto;
    • Kurian, Manju A.;
    • Garavaglia, Barbara;
    • Mencacci, Niccolò E.
    Publication type:
    journal article
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    Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation.

    Published in:
    2019
    By:
    • Jones, Hannah F.;
    • Morales‐Briceño, Hugo;
    • Barwick, Katy;
    • Lewis, Jennifer;
    • Sanchis‐Juan, Alba;
    • Raymond, F. Lucy;
    • Stewart, Kirsty;
    • Waugh, Mary‐Clare;
    • Mahant, Neil;
    • Kurian, Manju A.;
    • Dale, Russell C.;
    • Mohammad, Shekeeb S.;
    • Morales-Briceño, Hugo;
    • Sanchis-Juan, Alba;
    • Waugh, Mary-Clare
    Publication type:
    Case Study
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    Beta-propeller-associated neurodegeneration can present with dominant or isolated parkinsonism.

    Published in:
    2018
    By:
    • Morales‐Briceño, Hugo;
    • Sanchez‐Hernandez, Beatriz E.;
    • Meyer, Esther;
    • Kurian, Manju A.;
    • Fois, Alessandro F.;
    • Rodriguez‐Violante, Mayela;
    • Leal‐Ortega, Roberto;
    • Perez‐Lohman, Christian;
    • Mohammad, Shekeeb;
    • Fung, Victor S. C.;
    • Morales-Briceño, Hugo;
    • Sanchez-Hernandez, Beatriz E;
    • Rodriguez-Violante, Mayela;
    • Leal-Ortega, Roberto;
    • Perez-Lohman, Christian
    Publication type:
    Letter
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    Low CSF 5-HIAA in Myoclonus Dystonia.

    Published in:
    2017
    By:
    • Peall, Kathryn J.;
    • Ng, Joanne;
    • Dy, Marisela E.;
    • Sharma, Nutan;
    • Pope, Simon;
    • Heales, Simon;
    • Friedman, Jennifer R.;
    • Kurian, Manju A.
    Publication type:
    Letter
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    Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms.

    Published in:
    Life Science Alliance, 2022, v. 5, n. 12, p. 1, doi. 10.26508/lsa.202101284
    By:
    • Nolden, Kelsey A.;
    • Egner, John M.;
    • Collier, Jack J.;
    • Russell, Oliver M.;
    • Alston, Charlotte L.;
    • Harwig, Megan C.;
    • Widlansky, Michael E.;
    • Sasorith, Souphatta;
    • Barbosa, Inês A.;
    • Douglas, Andrew G. L.;
    • Baptista, Julia;
    • Walker, Mark;
    • Donnelly, Deirdre E.;
    • Morris, Andrew A.;
    • Hui Jeen Tan;
    • Kurian, Manju A.;
    • Gorman, Kathleen;
    • Mordekar, Santosh;
    • Deshpande, Charu;
    • Samanta, Rajib
    Publication type:
    Article
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    Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia.

    Published in:
    Cells (2073-4409), 2023, v. 12, n. 7, p. 1046, doi. 10.3390/cells12071046
    By:
    • Reid, Kimberley M.;
    • Steel, Dora;
    • Nair, Sanjana;
    • Bhate, Sanjay;
    • Biassoni, Lorenzo;
    • Sudhakar, Sniya;
    • Heys, Michelle;
    • Burke, Elizabeth;
    • Kamsteeg, Erik-Jan;
    • Hameed, Biju;
    • Zech, Michael;
    • Mencacci, Niccolo E.;
    • Barwick, Katy;
    • Topf, Maya;
    • Kurian, Manju A.
    Publication type:
    Article
    31

    Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25515-5
    By:
    • Hübschmann, Oya Kuseyri;
    • Horvath, Gabriella;
    • Cortès-Saladelafont, Elisenda;
    • Yıldız, Yılmaz;
    • Mastrangelo, Mario;
    • Pons, Roser;
    • Friedman, Jennifer;
    • Mercimek-Andrews, Saadet;
    • Suet-Na Wong;
    • Pearson, Toni S.;
    • Zafeiriou, Dimitrios I.;
    • Kulhánek, Jan;
    • Kurian, Manju A.;
    • López-Laso, Eduardo;
    • Oppebøen, Mari;
    • Kılavuz, Sebile;
    • Wassenberg, Tessa;
    • Goez, Helly;
    • Scholl-Bürgi, Sabine;
    • Porta, Francesco
    Publication type:
    Article
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    Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.

    Published in:
    Journal of Clinical Investigation, 2015, v. 125, n. 4, p. 1670, doi. 10.1172/JCI79765
    By:
    • Baker, Kate;
    • Gordon, Sarah L.;
    • Grozeva, Detelina;
    • van Kogelenberg, Margriet;
    • Roberts, Nicola Y.;
    • Pike, Michael;
    • Blair, Edward;
    • Hurles, Matthew E.;
    • Chong, W. Kling;
    • Baldeweg, Torsten;
    • Kurian, Manju A.;
    • Boyd, Stewart G.;
    • Cousin, Michael A.;
    • Raymond, F. Lucy
    Publication type:
    Article
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    SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.

    Published in:
    Journal of Neurology, 2014, v. 261, n. 12, p. 2296, doi. 10.1007/s00415-014-7488-3
    By:
    • Peall, Kathryn;
    • Kurian, Manju;
    • Wardle, Mark;
    • Waite, Adrian;
    • Hedderly, Tammy;
    • Lin, Jean-Pierre;
    • Smith, Martin;
    • Whone, Alan;
    • Pall, Hardev;
    • White, Cathy;
    • Lux, Andrew;
    • Jardine, Philip;
    • Lynch, Bryan;
    • Kirov, George;
    • O'Riordan, Sean;
    • Samuel, Michael;
    • Lynch, Timothy;
    • King, Mary;
    • Chinnery, Patrick;
    • Warner, Thomas
    Publication type:
    Article
    37

    Psychomotor impairments and therapeutic implications revealed by a mutation associated with infantile Parkinsonism-Dystonia.

    Published in:
    eLife, 2021, p. 1, doi. 10.7554/eLife.68039
    By:
    • Aguilar, Jenny I.;
    • Cheng, Mary Hongying;
    • Font, Josep;
    • Schwartz, Alexandra C.;
    • Ledwitch, Kaitlyn;
    • Duran, Amanda;
    • Mabry, Samuel J.;
    • Belovich, Andrea N;
    • Zhu, Yanqi;
    • Carter, Angela M.;
    • Shi, Lei;
    • Kurian, Manju A.;
    • Fenollar-Ferrer, Cristina;
    • Meiler, Jens;
    • Ryan, Renae Monique;
    • Mchaourab, Hassane S.;
    • Bahar, Ivet;
    • Matthies, Heinrich J. G.;
    • Galli, Aurelio
    Publication type:
    Article
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    Imaging readiness in the gene therapy era‐exploring standardized protocols for response assessment.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12828
    By:
    • Biswas, Asthik;
    • Soo, Audrey K. S.;
    • Kurian, Manju A.;
    • Löbel, Ulrike;
    • D'Arco, Felice;
    • Batzios, Spyros;
    • Sudhakar, Sniya;
    • Mankad, Kshitij;
    • Gaur, Pritika;
    • Varga, Patricia;
    • De Vita, Enrico;
    • Cooper, Jessica;
    • Hassell, Jane;
    • Hacohen, Yael;
    • Hemingway, Cheryl;
    • Clark, Christopher A.;
    • Rahman, Shamima;
    • Gissen, Paul;
    • Baruteau, Julien;
    • Broomfield, Alexander
    Publication type:
    Article
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    Gene therapy for aromatic L‐amino acid decarboxylase deficiency: Requirements for safe application and knowledge‐generating follow‐up.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 463, doi. 10.1002/jimd.12649
    By:
    • Roubertie, Agathe;
    • Opladen, Thomas;
    • Brennenstuhl, Heiko;
    • Kuseyri Hübschmann, Oya;
    • Flint, Lisa;
    • Willemsen, Michel A.;
    • Leuzzi, Vincenzo;
    • Cazorla, Angels Garcia;
    • Kurian, Manju A.;
    • François‐Heude, Marie Céline;
    • Hwu, Paul;
    • Zeev, Bruria Ben;
    • Kiening, Karl;
    • Roujeau, Thomas;
    • Pons, Roser;
    • Pearson, Toni S.
    Publication type:
    Article
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    Fetal gene therapy.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 192, doi. 10.1002/jimd.12659
    By:
    • Waddington, Simon N.;
    • Peranteau, William H.;
    • Rahim, Ahad A.;
    • Boyle, Ashley K.;
    • Kurian, Manju A.;
    • Gissen, Paul;
    • Chan, Jerry K. Y.;
    • David, Anna L.
    Publication type:
    Article
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    AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1121, doi. 10.1002/jimd.12247
    By:
    • Pearson, Toni S.;
    • Gilbert, Laura;
    • Opladen, Thomas;
    • Garcia‐Cazorla, Angeles;
    • Mastrangelo, Mario;
    • Leuzzi, Vincenzo;
    • Tay, Stacy K. H.;
    • Sykut‐Cegielska, Jolanta;
    • Pons, Roser;
    • Mercimek‐Andrews, Saadet;
    • Kato, Mitsuhiro;
    • Lücke, Thomas;
    • Oppebøen, Mari;
    • Kurian, Manju A.;
    • Steel, Dora;
    • Manti, Filippo;
    • Meeks, Kathleen D.;
    • Jeltsch, Kathrin;
    • Flint, Lisa
    Publication type:
    Article
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