Works matching AU Friedman, Jennifer

Results: 112
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    Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants.

    Published in:
    Annals of Clinical & Translational Neurology, 2025, v. 12, n. 3, p. 602, doi. 10.1002/acn3.52225
    By:
    • McCarty, Riley M.;
    • Saade, Dimah;
    • Munot, Pinki;
    • Laverty, Chamindra G.;
    • Pinz, Hailey;
    • Zou, Yaqun;
    • McAnally, Meghan;
    • Yun, Pomi;
    • Tian, Cuixia;
    • Hu, Ying;
    • Feng, Lucy;
    • Phadke, Rahul;
    • Ceulemans, Sophia;
    • Magoulas, Pilar;
    • Skalsky, Andrew J.;
    • Friedman, Jennifer R.;
    • Braddock, Stephen R.;
    • Neuhaus, Sarah B.;
    • Malicki, Denise M.;
    • Bainbridge, Matthew N.
    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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    Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with ε-sarcoglycan mutations.

    Published in:
    Movement Disorders, 2008, v. 23, n. 4, p. 588, doi. 10.1002/mds.21785
    By:
    • Raymond, Deborah;
    • Saunders-Pullman, Rachel;
    • de Carvalho Aguiar, Patricia;
    • Schule, Birgitt;
    • Kock, Norman;
    • Friedman, Jennifer;
    • Harris, Juliette;
    • Ford, Blair;
    • Frucht, Steven;
    • Heiman, Gary A.;
    • Jennings, Danna;
    • Doheny, Dana;
    • Brin, Mitchell F.;
    • de Leon Brin, Deborah;
    • Multhaupt-Buell, Trisha;
    • Lang, Anthony E.;
    • Kurlan, Roger;
    • Klein, Christine;
    • Ozelius, Laurie;
    • Bressman, Susan
    Publication type:
    Article
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    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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    Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

    Published in:
    2015
    By:
    • Viollet, Louis;
    • Glusman, Gustavo;
    • Murphy, Kelley J.;
    • Newcomb, Tara M.;
    • Reyna, Sandra P.;
    • Sweney, Matthew;
    • Nelson, Benjamin;
    • Andermann, Frederick;
    • Andermann, Eva;
    • Acsadi, Gyula;
    • Barbano, Richard L.;
    • Brown, Candida;
    • Brunkow, Mary E.;
    • Chugani, Harry T.;
    • Cheyette, Sarah R.;
    • Collins, Abigail;
    • DeBrosse, Suzanne D.;
    • Galas, David;
    • Friedman, Jennifer;
    • Hood, Lee
    Publication type:
    Correction Notice
    20

    Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

    Published in:
    PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0127045
    By:
    • Viollet, Louis;
    • Glusman, Gustavo;
    • Murphy, Kelley J.;
    • Newcomb, Tara M.;
    • Reyna, Sandra P.;
    • Sweney, Matthew;
    • Nelson, Benjamin;
    • Andermann, Frederick;
    • Andermann, Eva;
    • Acsadi, Gyula;
    • Barbano, Richard L.;
    • Brown, Candida;
    • Brunkow, Mary E.;
    • Chugani, Harry T.;
    • Cheyette, Sarah R.;
    • Collins, Abigail;
    • DeBrosse, Suzanne D.;
    • Galas, David;
    • Friedman, Jennifer;
    • Hood, Lee
    Publication type:
    Article
    21

    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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    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
    30

    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
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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
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    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
    42

    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
    43

    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
    44

    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
    45

    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
    46

    Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.

    Published in:
    NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0049-4
    By:
    • Farnaes, Lauge;
    • Hildreth, Amber;
    • Sweeney, Nathaly M.;
    • Clark, Michelle M.;
    • Chowdhury, Shimul;
    • Nahas, Shareef;
    • Cakici, Julie A.;
    • Benson, Wendy;
    • Kaplan, Robert H.;
    • Kronick, Richard;
    • Bainbridge, Matthew N.;
    • Friedman, Jennifer;
    • Gold, Jeffrey J.;
    • Ding, Yan;
    • Veeraraghavan, Narayanan;
    • Dimmock, David;
    • Kingsmore, Stephen F.
    Publication type:
    Article
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