Zarazuela Zolkipli-Cunningham - The Children's Hospital of Philadelphia

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论文共 66 篇作者统计合作学者相似作者

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MMFP-Tableau: Enabling Precision Mitochondrial Medicine Through Integration, Visualization, and Analytics of Clinical and Research Health System Electronic Data

Ibrahim George-Sankoh,Laura E MacMullen,Asif T Chinwalla,Deanne Taylor,Rebecca D Ganetzky, Katelynn Stanley,Elizabeth M McCormick,Zarazuela Zolkipli-Cunningham,Marni J Falk

JAMIA openno. 4 (2024): ooae134-ooae134

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Adult-onset Leigh Syndrome: an Analysis of the North American Mitochondrial Disease Consortium Database (P3-11.017)

Emanuele Barca,Adam Kroopnick,Alexander Houck,Kiran Thakur,Rachelle Dugue,Zarazuela Zolkipli-Cunningham,Marni Falk,Amy Goldstein,Matthew Demczko,Ralitza Gavrilova,Austin Larson,Johan Van Hove,Russell Saneto,Richard Buchsbaum,John Thompson,Michio Hirano

Neurology（2024）

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Bridging the Clinical-Research Gap: Harnessing an Electronic Data Capture, Integration, and Visualization Platform to Systematically Assess Prospective Patient-Reported Outcomes in Mitochondrial Medicine

Laura E. MacMullen,Ibrahim George-Sankoh, Katelynn Stanley,Elizabeth M. McCormick,Colleen C. Muraresku,Amy Goldstein,Zarazuela Zolkipli-Cunningham,Marni J. Falk

MOLECULAR GENETICS AND METABOLISMno. 1 (2024)

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Long-term Natural History in Type II and III Spinal Muscular Atrophy: a 4-Year International Study on the Hammersmith Functional Motor Scale Expanded

Giorgia Coratti,Francesca Bovis,Maria Carmela Pera,Matthew Civitello,Annemarie Rohwer,Francesca Salmin,Allan M. Glanzman,Jacqueline Montes,Amy Pasternak,Roberto De Sanctis,Sally Dunaway Young,Tina Duong,Irene Mizzoni,Evelin Milev,Maria Sframeli,Simone Morando,Emilio Albamonte, Adele D'Amico,Michela Catteruccia,Noemi Brolatti, Marika Pane,Mariacristina Scoto,Sonia Messina, Jesica Exposito Escudero,Liesbeth De Waele,Michio Hirano,Zarazuela Zolkipli-Cunningham,Basil T. Darras,Enrico Bertini, Andres Nascimiento Osorio,Claudio Bruno, Natalie Goemans, Valeria A. Sansone,John Day, Giovanni Baranello,Francesco Muntoni,Richard Finkel,Eugenio Mercuri

EUROPEAN JOURNAL OF NEUROLOGY (2024)

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Changes in Abilities over the Initial 12 Months of Nusinersen Treatment for Type II SMA

Giorgia Coratti,Matthew Civitello,Annemarie Rohwer,Francesca Salmin,Allan M. Glanzman, Jaqueline Montes,Amy Pasternak,Roberto De Sanctis,Sally Dunaway Young,Tina Duong,Irene Mizzoni,Evelin Milev,Maria Sframeli,Simone Morando,Emilio Albamonte,Adele D'Amico,Noemi Brolatti,Marika Pane,Mariacristina Scoto,Sonia Messina, Michio Hirano,Zarazuela Zolkipli-Cunningham,Basil T. Darras, Enrico Bertini, Claudio Bruno,Valeria Sansone,John Day,Giovanni Baranello, Maria Carmela Pera,Francesco Muntoni,Richard Finkel,Eugenio Mercuri

NEUROMUSCULAR DISORDERS (2024): 42-50

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Germline Mutations in a G Protein Identify Signaling Cross-Talk in T Cells

Hyoungjun Ham,Huie Jing,Ian T. Lamborn, Megan M. Kober,Alexey Koval,Yamina A. Berchiche,D. Eric Anderson,Kirk M. Druey,Judith N. Mandl,Bertrand Isidor,Carlos R. Ferreira,Alexandra F. Freeman,Sundar Ganesan, Meliha Karsak,Peter J. Mustillo,Juliana Teo,Zarazuela Zolkipli-Cunningham,Nicolas Chatron,Francois Lecoquierre,Andrew J. Oler,Jana Pachlopnik Schmid,Douglas B. Kuhns,Xuehua Xu,Fabian Hauck,Waleed Al-Herz, Matias Wagner,Paulien A. Terhal,Mari Muurinen,Vincent Barlogis,Phillip Cruz,Jeffrey Danielson,Helen Stewart,Petra Loid,Sebastian Rading, Boris Keren,Rolph Pfundt,Kol A. Zarember,Katharina Vill, Lorraine Potocki,Kenneth N. Olivier,Gaetan Lesca,Laurence Faivre,Melanie Wong, Anne Puel,Janet Chou,Maud Tusseau,Niki M. Moutsopoulos,Helen F. Matthews,Cas Simons,Ryan J. Taft,Ariane Soldatos,Etienne Masle-Farquhar,Stefania Pittaluga,Robert Brink,Danielle L. Fink,Heidi H. Kong,Juraj Kabat, Woo Sung Kim,Tatjana Bierhals, Kazuyuki Meguro,Amy P. Hsu,Jingwen Gu,Jennifer Stoddard,Benito Banos-Pinero, Maria Slack, Giampaolo Trivellin,Benoit Mazel,Maarja Soomann, Samuel Li, Val J. Watts,Constantine A. Stratakis, Maria F. Rodriguez-Quevedo,Ange-Line Bruel, Marita Lipsanen-Nyman,Paul Saultier, Rashmi Jain,Daphne Lehalle, Daniel Torres,Kathleen E. Sullivan,Sebastien Barbarot,Axel Neu,Yannis Duffourd,Morgan Similuk,Kirsty McWalter, Pierre Blanc,Stephane Bezieau,Tian Jin,Raif S. Geha,Jean-Laurent Casanova, Outi M. Makitie,Christian Kubisch,Patrick Edery,John Christodoulou,Ronald N. Germain,Christopher C. Goodnow,Thomas P. Sakmar,Daniel D. Billadeau,Sebastien Kury,Vladimir L. Katanaev, Yu Zhang,Michael J. Lenardo, Helen C. Su

SCIENCEno. 6715 (2024): 1314-+

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Beyond Contractures in Spinal Muscular Atrophy: Identifying Lower-Limb Joint Hypermobility

Elizabeth R. Harding,Cara H. Kanner,Amy Pasternak,Allan M. Glanzman,Sally Dunaway Young,Ashwini K. Rao,Michael P. McDermott,Zarazuela Zolkipli-Cunningham,John W. Day,Richard S. Finkel,Basil T. Darras,Darryl C. De Vivo,Jacqueline Montes

JOURNAL OF CLINICAL MEDICINE（2024）

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Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum

Elizabeth M McCormick,Kierstin Keller,Julie P Taylor,Alison J Coffey,Lishuang Shen,Danuta Krotoski,Brian Harding, NICHD ClinGen U Mitochondrial Disease Gene Curation Expert Panel,Xiaowu Gai,Marni J Falk,Zarazuela Zolkipli-Cunningham,Shamima Rahman

Annals of neurologyno. 4 (2023): 696-712

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