Works by Friedman, Jennifer

Results: 112
    1

    Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations.

    Published in:
    Brain Communications, 2024, v. 6, n. 6, p. 1, doi. 10.1093/braincomms/fcae377
    By:
    • Nagy, Sara;
    • Pagnamenta, Alistair T;
    • Cali, Elisa;
    • Braakman, Hilde M H;
    • Wijntjes, Juerd;
    • Kusters, Benno;
    • Gotkine, Marc;
    • Elpeleg, Orly;
    • Meiner, Vardiella;
    • Lenberg, Jerica;
    • Wigby, Kristen;
    • Friedman, Jennifer;
    • Perry, Luke D;
    • Rossor, Alexander M;
    • Meszarosova, Anna Uhrova;
    • Thomasova, Dana;
    • Jacob, Saiju;
    • O'Driscoll, Mary;
    • Simone, Lenika De;
    • Grange, Dorothy K
    Publication type:
    Article
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    Molecular Epidemiology of Adenovirus Type 21 Respiratory Strains Isolated From US Military Trainees (1996-2014).

    Published in:
    Journal of Infectious Diseases, 2015, v. 212, n. 6, p. 871, doi. 10.1093/infdis/jiv141
    By:
    • Vejbaesya, Sasijit;
    • Thongpradit, Rungrot;
    • Kalayanarooj, Siripen;
    • Luangtrakool, Komon;
    • Luangtrakool, Panpimon;
    • Gibbons, Robert V.;
    • Srinak, Duangporn;
    • Ngammthaworn, Somporn;
    • Apisawes, Kusuma;
    • In-Kyu Yoon;
    • Thomas, Stephen J.;
    • Jarman, Richard G.;
    • Srikiakthachorn, Anon;
    • Green, Sharone;
    • Chandanayingyong, Dasnayanee;
    • Sangshin Park;
    • Friedman, Jennifer;
    • Rothman, Alan L.;
    • Stephens, Henry A. F.
    Publication type:
    Article
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    De novo KCNB1 mutations in epileptic encephalopathy.

    Published in:
    Annals of Neurology, 2014, v. 76, n. 4, p. 529, doi. 10.1002/ana.24263
    By:
    • Torkamani, Ali;
    • Bersell, Kevin;
    • Jorge, Benjamin S.;
    • Bjork, Robert L.;
    • Friedman, Jennifer R.;
    • Bloss, Cinnamon S.;
    • Cohen, Julie;
    • Gupta, Siddharth;
    • Naidu, Sakkubai;
    • Vanoye, Carlos G.;
    • George, Alfred L.;
    • Kearney, Jennifer A.
    Publication type:
    Article
    15

    Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.

    Published in:
    Annals of Neurology, 2014, v. 75, n. 4, p. 542, doi. 10.1002/ana.24119
    By:
    • Chen, Ying‐Zhang;
    • Friedman, Jennifer R.;
    • Chen, Dong‐Hui;
    • Chan, Guy C.‐K.;
    • Bloss, Cinnamon S.;
    • Hisama, Fuki M.;
    • Topol, Sarah E.;
    • Carson, Andrew R.;
    • Pham, Phillip H.;
    • Bonkowski, Emily S.;
    • Scott, Erick R.;
    • Lee, Janel K.;
    • Zhang, Guangfa;
    • Oliveira, Glenn;
    • Xu, Jian;
    • Scott‐Van Zeeland, Ashley A.;
    • Chen, Qi;
    • Levy, Samuel;
    • Topol, Eric J.;
    • Storm, Daniel
    Publication type:
    Article
    16

    Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy.

    Published in:
    Annals of Neurology, 2012, v. 71, n. 4, p. 520, doi. 10.1002/ana.22685
    By:
    • Friedman, Jennifer;
    • Roze, Emmanuel;
    • Abdenur, Jose E.;
    • Chang, Richard;
    • Gasperini, Serena;
    • Saletti, Veronica;
    • Wali, Gurusidheshwar M.;
    • Eiroa, Hernan;
    • Neville, Brian;
    • Felice, Alex;
    • Parascandalo, Ray;
    • Zafeiriou, Dimitrios I.;
    • Arrabal-Fernandez, Luisa;
    • Dill, Patricia;
    • Eichler, Florian S.;
    • Echenne, Bernard;
    • Gutierrez-Solana, Luis G.;
    • Hoffmann, Georg F.;
    • Hyland, Keith;
    • Kusmierska, Katarzyna
    Publication type:
    Article
    17

    Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1489, doi. 10.1002/jimd.12416
    By:
    • Keller, Mareike;
    • Brennenstuhl, Heiko;
    • Kuseyri Hübschmann, Oya;
    • Manti, Filippo;
    • Julia Palacios, Natalia Alexandra;
    • Friedman, Jennifer;
    • Yıldız, Yılmaz;
    • Koht, Jeanette Aimee;
    • Wong, Suet‐Na;
    • Zafeiriou, Dimitrios I.;
    • López‐Laso, Eduardo;
    • Pons, Roser;
    • Kulhánek, Jan;
    • Jeltsch, Kathrin;
    • Serrano‐Lomelin, Jesus;
    • Garbade, Sven F.;
    • Opladen, Thomas;
    • Goez, Helly;
    • Burlina, Alberto;
    • Cortès‐Saladelafont, Elisenda
    Publication type:
    Article
    18

    Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 987, doi. 10.1002/jimd.12367
    By:
    • Alsharhan, Hind;
    • Ng, Bobby G.;
    • Daniel, Earnest James Paul;
    • Friedman, Jennifer;
    • Pivnick, Eniko K.;
    • Al‐Hashem, Amal;
    • Faqeih, Eissa Ali;
    • Liu, Pengfei;
    • Engelhardt, Nicole M.;
    • Keller, Kierstin N.;
    • Chen, Jie;
    • Mazzeo, Pamela A.;
    • Rosenfeld, Jill A.;
    • Bamshad, Michael J.;
    • Nickerson, Deborah A.;
    • Raymond, Kimiyo M.;
    • Freeze, Hudson H.;
    • He, Miao;
    • Edmondson, Andrew C.;
    • Lam, Christina
    Publication type:
    Article
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    Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 1070, doi. 10.1002/jimd.12360
    By:
    • Kuseyri Hübschmann, Oya;
    • Mohr, Alexander;
    • Friedman, Jennifer;
    • Manti, Filippo;
    • Horvath, Gabriella;
    • Cortès‐Saladelafont, Elisenda;
    • Mercimek‐Andrews, Saadet;
    • Yildiz, Yilmaz;
    • Pons, Roser;
    • Kulhánek, Jan;
    • Oppebøen, Mari;
    • Koht, Jeanette Aimee;
    • Podzamczer‐Valls, Inés;
    • Domingo‐Jimenez, Rosario;
    • Ibáñez, Salvador;
    • Alcoverro‐Fortuny, Oscar;
    • Gómez‐Alemany, Teresa;
    • Castro, Pedro;
    • Alfonsi, Chiara;
    • Zafeiriou, Dimitrios I.
    Publication type:
    Article
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    Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia.

    Published in:
    Annals of Neurology, 2000, v. 47, n. 3, p. 369, doi. 10.1002/1531-8249(200003)47:3<369::AID-ANA14>3.0.CO;2-9
    By:
    • Klein, Christine;
    • Gurvich, Nadia;
    • Sena-Esteves, Miguel;
    • Bressman, Susan;
    • Brin, Mitchell F.;
    • Ebersole, Barbara J.;
    • Fink, Stephen;
    • Forsgren, Lars;
    • Friedman, Jennifer;
    • Grimes, David;
    • Holmgren, Gosta;
    • Kyllerman, Mårtin;
    • Lang, Anthony E.;
    • De Leon, Deborah;
    • Leung, Joanne;
    • Prioleau, Cassandra;
    • Raymond, Deborah;
    • Sanner, Gunnar;
    • Saunders-Pullman, Rachel;
    • Vieregge, Peter
    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
    26

    Efficacy of Caffeine in ADCY5‐Related Dyskinesia: A Retrospective Study.

    Published in:
    Movement Disorders, 2022, v. 37, n. 6, p. 1294, doi. 10.1002/mds.29006
    By:
    • Méneret, Aurélie;
    • Mohammad, Shekeeb S.;
    • Cif, Laura;
    • Doummar, Diane;
    • DeGusmao, Claudio;
    • Anheim, Mathieu;
    • Barth, Magalie;
    • Damier, Philippe;
    • Demonceau, Nathalie;
    • Friedman, Jennifer;
    • Gallea, Cécile;
    • Gras, Domitille;
    • Gurgel‐Giannetti, Juliana;
    • Innes, Emily A.;
    • Necpál, Ján;
    • Riant, Florence;
    • Sagnes, Sandrine;
    • Sarret, Catherine;
    • Seliverstov, Yury;
    • Paramanandam, Vijayashankar
    Publication type:
    Article
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    Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.

    Published in:
    Movement Disorders, 2021, v. 36, n. 3, p. 690, doi. 10.1002/mds.28362
    By:
    • Tristán‐Noguero, Alba;
    • Borràs, Eva;
    • Molero‐Luis, Marta;
    • Wassenberg, Tessa;
    • Peters, Tessa;
    • Verbeek, Marcel M.;
    • Willemsen, Michel;
    • Opladen, Thomas;
    • Jeltsch, Kathrin;
    • Pons, Roser;
    • Thony, Beat;
    • Horvath, Gabriella;
    • Yapici, Zuhal;
    • Friedman, Jennifer;
    • Hyland, Keith;
    • Agosta, Guillermo E.;
    • López‐Laso, Eduardo;
    • Artuch, Rafael;
    • Sabidó, Eduard;
    • García‐Cazorla, Àngels
    Publication type:
    Article
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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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    Whole-Genome Sequencing for Optimized Patient Management.

    Published in:
    Science Translational Medicine, 2011, v. 3, n. 87, p. 1, doi. 10.1126/scitranslmed.3002243
    By:
    • Bainbridge, Matthew N.;
    • Wiszniewski, Wojciech;
    • Murdock, David R.;
    • Friedman, Jennifer;
    • Gonzaga-Jauregui, Claudia;
    • Newsham, Irene;
    • Reid, Jeffrey G.;
    • Fink, John K.;
    • Morgan, Margaret B.;
    • Gingras, Marie-Claude;
    • Muzny, Donna M.;
    • Hoang, Linh D.;
    • Yousaf, Shahed;
    • Lupski, James R.;
    • Gibbs, Richard A.
    Publication type:
    Article
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    Association of Antibodies to Helminth Defense Molecule 1 With Inflammation, Organomegaly, and Decreased Nutritional Status in Schistosomiasis Japonica.

    Published in:
    Journal of Infectious Diseases, 2024, v. 230, n. 4, p. 1023, doi. 10.1093/infdis/jiae330
    By:
    • Ruiz, Amanda E;
    • Pond-Tor, Sunthorn;
    • Stuart, Ronald;
    • Acosta, Luz P;
    • Coutinho, Hannah M;
    • Leenstra, Tjalling;
    • Fisher, Sydney;
    • Fahey, Owen;
    • McDonald, Emily A;
    • Jiz, Mario A;
    • Olveda, Remigio M;
    • McGarvey, Stephen T;
    • Friedman, Jennifer F;
    • Wu, Hannah Wei;
    • Kurtis, Jonathan D
    Publication type:
    Article
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    Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.

    Published in:
    Human Genetics, 2021, v. 140, n. 7, p. 1109, doi. 10.1007/s00439-021-02283-2
    By:
    • Parenti, Ilaria;
    • Lehalle, Daphné;
    • Nava, Caroline;
    • Torti, Erin;
    • Leitão, Elsa;
    • Person, Richard;
    • Mizuguchi, Takeshi;
    • Matsumoto, Naomichi;
    • Kato, Mitsuhiro;
    • Nakamura, Kazuyuki;
    • de Man, Stella A.;
    • Cope, Heidi;
    • Shashi, Vandana;
    • Friedman, Jennifer;
    • Joset, Pascal;
    • Steindl, Katharina;
    • Rauch, Anita;
    • Muffels, Irena;
    • van Hasselt, Peter M.;
    • Petit, Florence
    Publication type:
    Article
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    Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-018-07067-3
    By:
    • Friedman, Jennifer;
    • Smith, Desiree E.;
    • Issa, Mahmoud Y.;
    • Stanley, Valentina;
    • Wang, Rengang;
    • Mendes, Marisa I.;
    • Wright, Meredith S.;
    • Wigby, Kristen;
    • Hildreth, Amber;
    • Crawford, John R.;
    • Koehler, Alanna E.;
    • Chowdhury, Shimul;
    • Nahas, Shareef;
    • Zhai, Liting;
    • Xu, Zhiwen;
    • Lo, Wing-Sze;
    • James, Kiely N.;
    • Musaev, Damir;
    • Accogli, Andrea;
    • Guerrero, Kether
    Publication type:
    Article
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    Associations of poor water, sanitation, and hygiene and parasite burden with markers of environmental enteric dysfunction in preschool‐age children infected with Schistosoma mansoni in Uganda.

    Published in:
    Tropical Medicine & International Health, 2025, v. 30, n. 1, p. 14, doi. 10.1111/tmi.14061
    By:
    • Colt, Susannah;
    • Edielu, Andrew;
    • Lewander, David;
    • Wu, Hannah W.;
    • Webb, Emily L.;
    • Mawa, Patrice A.;
    • Nakyesige, Racheal;
    • Ayebazibwe, A. Gloria K.;
    • Friedman, Jennifer F.;
    • Bustinduy, Amaya L.
    Publication type:
    Article