Works matching AU Mankad, Kshitij

Results: 153
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    Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development—a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis

    Published in:
    Child's Nervous System, 2021, v. 37, n. 7, p. 2375, doi. 10.1007/s00381-020-04986-9
    By:
    • Chhabda, Sahil;
    • Sudhakar, Sniya;
    • Mankad, Kshitij;
    • Jorgensen, Mette;
    • Carceller, Fernando;
    • Jacques, Thomas S.;
    • Merve, Ashirwad;
    • Aizpurua, Miren;
    • Chalker, Jane;
    • Garimberti, Elisa;
    • D'Arco, Felice
    Publication type:
    Article
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    Clinico-radiological approach to cerebral hemiatrophy.

    Published in:
    Child's Nervous System, 2018, v. 34, n. 12, p. 2377, doi. 10.1007/s00381-018-3934-3
    By:
    • Tan, Ai Peng;
    • Wong, Yen Ling Jocelyn;
    • Lin, Bingyuan Jeremy;
    • Yong, Hsiang Rong Clement;
    • Mankad, Kshitij
    Publication type:
    Article
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    Zellweger syndrome and secondary mitochondrial myopathy.

    Published in:
    European Journal of Pediatrics, 2015, v. 174, n. 4, p. 557, doi. 10.1007/s00431-014-2431-2
    By:
    • Salpietro, Vincenzo;
    • Phadke, Rahul;
    • Saggar, Anand;
    • Hargreaves, Iain;
    • Yates, Robert;
    • Fokoloros, Christos;
    • Mankad, Kshitij;
    • Hertecant, Jozef;
    • Ruggieri, Martino;
    • McCormick, David;
    • Kinali, Maria
    Publication type:
    Article
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    Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study.

    Published in:
    Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 1/2, p. 107, doi. 10.1515/jpem-2013-0156
    By:
    • Salpietro, Vincenzo;
    • Mankad, Kshitij;
    • Kinali, Maria;
    • Adams, Ashok;
    • Valenzise, Mariella;
    • Tortorella, Gaetano;
    • Gitto, Eloisa;
    • Polizzi, Agata;
    • Chirico, Valeria;
    • Nicita, Francesco;
    • David, Emanuele;
    • Romeo, Anna Claudia;
    • Squeri, Carlo Attilio;
    • Savasta, Salvatore;
    • Marseglia, Gian Luigi;
    • Arrigo, Teresa;
    • Johanson, Conrad Earl;
    • Ruggieri, Martino
    Publication type:
    Article
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    Human mutations in SLITRK3 implicated in GABAergic synapse development in mice.

    Published in:
    Frontiers in Molecular Neuroscience, 2024, p. 01, doi. 10.3389/fnmol.2024.1222935
    By:
    • Efthymiou, Stephanie;
    • Han, Wenyan;
    • Ilyas, Muhammad;
    • Jun Li;
    • Yichao Yu;
    • Scala, Marcello;
    • Malintan, Nancy T.;
    • Vavouraki, Nikoleta;
    • Mankad, Kshitij;
    • Maroofian, Reza;
    • Rocca, Clarissa;
    • Salpietro, Vincenzo;
    • Lakhani, Shenela;
    • Mallack, Eric J.;
    • Palculict, Timothy Blake;
    • Hong Li;
    • Guojun Zhang;
    • Zafar, Faisal;
    • Rana, Nuzhat;
    • Noriko Takashima
    Publication type:
    Article
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    Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.

    Published in:
    Annals of Neurology, 2020, v. 88, n. 5, p. 867, doi. 10.1002/ana.25879
    By:
    • Steel, Dora;
    • Zech, Michael;
    • Zhao, Chen;
    • Barwick, Katy E. S.;
    • Burke, Derek;
    • Demailly, Diane;
    • Kumar, Kishore R.;
    • Zorzi, Giovanna;
    • Nardocci, Nardo;
    • Kaiyrzhanov, Rauan;
    • Wagner, Matias;
    • Iuso, Arcangela;
    • Berutti, Riccardo;
    • Škorvánek, Matej;
    • Necpál, Ján;
    • Davis, Ryan;
    • Wiethoff, Sarah;
    • Mankad, Kshitij;
    • Sudhakar, Sniya;
    • Ferrini, Arianna
    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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    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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    Evidence of disrupted rhombic lip development in the pathogenesis of Dandy–Walker malformation.

    Published in:
    Acta Neuropathologica, 2021, v. 142, n. 4, p. 761, doi. 10.1007/s00401-021-02355-7
    By:
    • Haldipur, Parthiv;
    • Bernardo, Silvia;
    • Aldinger, Kimberly A.;
    • Sivakumar, Tarika;
    • Millman, Jake;
    • Sjoboen, Alexandria H.;
    • Dang, Derek;
    • Dubocanin, Danilo;
    • Deng, Mei;
    • Timms, Andrew E.;
    • Davis, Brian D.;
    • Plummer, Jasmine T.;
    • Mankad, Kshitij;
    • Oztekin, Ozgur;
    • Manganaro, Lucia;
    • Guimiot, Fabien;
    • Adle-Biassette, Homa;
    • Russo, Rosa;
    • Siebert, Joseph R.;
    • Kidron, Debora
    Publication type:
    Article
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    Resistance, rebound, and recurrence regrowth patterns in pediatric low-grade glioma treated by MAPK inhibition: A modified Delphi approach to build international consensus-based definitions—International Pediatric Low-Grade Glioma Coalition.

    Published in:
    Neuro-Oncology, 2024, v. 26, n. 8, p. 1357, doi. 10.1093/neuonc/noae074
    By:
    • O'Hare, Patricia;
    • Cooney, Tabitha;
    • Blank, Peter de;
    • Gutmann, David H;
    • Kieran, Mark;
    • Milde, Till;
    • Fangusaro, Jason;
    • Fisher, Michael;
    • Avula, Shivaram;
    • Packer, Roger;
    • Fukuoka, Kohei;
    • Mankad, Kshitij;
    • Mueller, Sabine;
    • Waanders, Angela J;
    • Opocher, Enrico;
    • Bouffet, Eric;
    • Raabe, Eric;
    • Werle, Natacha Entz;
    • Azizi, Amedeo A;
    • Robison, Nathan J
    Publication type:
    Article
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    Response assessment in pediatric craniopharyngioma: recommendations from the Response Assessment in Pediatric Neuro-Oncology (RAPNO) Working Group.

    Published in:
    Neuro-Oncology, 2023, v. 25, n. 2, p. 224, doi. 10.1093/neuonc/noac221
    By:
    • Hoffman, Lindsey M;
    • Jaimes, Camilo;
    • Mankad, Kshitij;
    • Mirsky, David M;
    • Tamrazi, Benita;
    • Tinkle, Christopher L;
    • Kline, Cassie;
    • Ramasubramanian, Aparna;
    • Malbari, Fatema;
    • Mangum, Ross;
    • Lindsay, Holly;
    • Horne, Vincent;
    • Daniels, David J;
    • Keole, Sameer;
    • Grosshans, David R;
    • Poussaint, Tina Young;
    • Packer, Roger;
    • Cavalheiro, Sergio;
    • Bison, Brigitte;
    • Hankinson, Todd C
    Publication type:
    Article
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    Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy.

    Published in:
    Epilepsia (Series 4), 2021, v. 62, n. 2, p. e35, doi. 10.1111/epi.16801
    By:
    • Efthymiou, Stephanie;
    • Dutra‐Clarke, Marina;
    • Maroofian, Reza;
    • Kaiyrzhanov, Rauan;
    • Scala, Marcello;
    • Reza Alvi, Javeria;
    • Sultan, Tipu;
    • Christoforou, Marilena;
    • Tuyet Mai Nguyen, Thi;
    • Mankad, Kshitij;
    • Vona, Barbara;
    • Rad, Aboulfazl;
    • Striano, Pasquale;
    • Salpietro, Vincenzo;
    • Guillen Sacoto, Maria J.;
    • Zaki, Maha S.;
    • Gleeson, Joseph G.;
    • Campeau, Philippe M.;
    • Russell, Bianca E.;
    • Houlden, Henry
    Publication type:
    Article
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    DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.

    Published in:
    2020
    By:
    • Ng, Joanne;
    • Cortès‐Saladelafont, Elisenda;
    • Abela, Lucia;
    • Termsarasab, Pichet;
    • Mankad, Kshitij;
    • Sudhakar, Sniya;
    • Gorman, Kathleen M.;
    • Heales, Simon J.R.;
    • Pope, Simon;
    • Biassoni, Lorenzo;
    • Csányi, Barbara;
    • Cain, John;
    • Rakshi, Karl;
    • Coutts, Helen;
    • Jayawant, Sandeep;
    • Jefferson, Rosalind;
    • Hughes, Deborah;
    • García‐Cazorla, Àngels;
    • Grozeva, Detelina;
    • Raymond, F. Lucy
    Publication type:
    journal article
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    DNA methylation-based classification of glioneuronal tumours synergises with histology and radiology to refine accurate molecular stratification.

    Published in:
    Neuropathology & Applied Neurobiology, 2023, v. 49, n. 2, p. 1, doi. 10.1111/nan.12894
    By:
    • Stone, Thomas J.;
    • Mankad, Kshitij;
    • Tan, Ai Peng;
    • Jan, Wajanat;
    • Pickles, Jessica C.;
    • Gogou, Maria;
    • Chalker, Jane;
    • Slodkowska, Iwona;
    • Pang, Emily;
    • Kristiansen, Mark;
    • Madhan, Gaganjit K.;
    • Forrest, Leysa;
    • Hughes, Deborah;
    • Koutroumanidou, Eleni;
    • Mistry, Talisa;
    • Ogunbiyi, Olumide;
    • Ahmed, Saira W.;
    • Cross, J. Helen;
    • Hubank, Mike;
    • Hargrave, Darren
    Publication type:
    Article
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    DNA methylation‐based classification of glioneuronal tumours synergises with histology and radiology to refine accurate molecular stratification.

    Published in:
    Neuropathology & Applied Neurobiology, 2023, v. 49, n. 1, p. 1, doi. 10.1111/nan.12894
    By:
    • Stone, Thomas J.;
    • Mankad, Kshitij;
    • Tan, Ai Peng;
    • Jan, Wajanat;
    • Pickles, Jessica C.;
    • Gogou, Maria;
    • Chalker, Jane;
    • Slodkowska, Iwona;
    • Pang, Emily;
    • Kristiansen, Mark;
    • Madhan, Gaganjit K.;
    • Forrest, Leysa;
    • Hughes, Deborah;
    • Koutroumanidou, Eleni;
    • Mistry, Talisa;
    • Ogunbiyi, Olumide;
    • Ahmed, Saira W.;
    • Cross, J. Helen;
    • Hubank, Mike;
    • Hargrave, Darren
    Publication type:
    Article
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    A case series of Diffuse Glioneuronal Tumours with Oligodendroglioma‐like features and Nuclear Clusters (DGONC).

    Published in:
    Neuropathology & Applied Neurobiology, 2021, v. 47, n. 3, p. 464, doi. 10.1111/nan.12680
    By:
    • Pickles, Jessica C;
    • Mankad, Kshitij;
    • Aizpurua, Miren;
    • Paine, Simon ML;
    • Bridges, Leslie R;
    • Carceller, Fernando;
    • Szychot, Elwira;
    • Walker, Mark;
    • Fairchild, Amy R;
    • Mistry, Talisa;
    • Ogunbiyi, Olumide;
    • Rolland, Alice;
    • Stone, Thomas J;
    • Dryden, Carryl;
    • Addy, Dilys;
    • Garimberti, Elisa;
    • Chalker, Jane;
    • Sahm, Felix;
    • Jones, David TW;
    • Hargrave, Darren
    Publication type:
    Article
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    Radiomic signatures of posterior fossa ependymoma: Molecular subgroups and risk profiles.

    Published in:
    Neuro-Oncology, 2022, v. 24, n. 6, p. 986, doi. 10.1093/neuonc/noab272
    By:
    • Zhang, Michael;
    • Wang, Edward;
    • Yecies, Derek;
    • Tam, Lydia T;
    • Han, Michelle;
    • Toescu, Sebastian;
    • Wright, Jason N;
    • Altinmakas, Emre;
    • Chen, Eric;
    • Radmanesh, Alireza;
    • Nemelka, Jordan;
    • Oztekin, Ozgur;
    • Wagner, Matthias W;
    • Lober, Robert M;
    • Ertl-Wagner, Birgit;
    • Ho, Chang Y;
    • Mankad, Kshitij;
    • Vitanza, Nicholas A;
    • Cheshier, Samuel H;
    • Jacques, Tom S
    Publication type:
    Article
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    AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10910-w
    By:
    • Salpietro, Vincenzo;
    • Dixon, Christine L.;
    • Guo, Hui;
    • Bello, Oscar D.;
    • Vandrovcova, Jana;
    • Efthymiou, Stephanie;
    • Maroofian, Reza;
    • Heimer, Gali;
    • Burglen, Lydie;
    • Valence, Stephanie;
    • Torti, Erin;
    • Hacke, Moritz;
    • Rankin, Julia;
    • Tariq, Huma;
    • Colin, Estelle;
    • Procaccio, Vincent;
    • Striano, Pasquale;
    • Mankad, Kshitij;
    • Lieb, Andreas;
    • Chen, Sharon
    Publication type:
    Article
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