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Anne M. Connolly
Researcher at Washington University in St. Louis
Publications - 122
Citations - 9763
Anne M. Connolly is an academic researcher from Washington University in St. Louis. The author has contributed to research in topics: Duchenne muscular dystrophy & Muscular dystrophy. The author has an hindex of 45, co-authored 115 publications receiving 7965 citations. Previous affiliations of Anne M. Connolly include Nationwide Children's Hospital & Children's National Medical Center.
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Journal ArticleDOI
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
Richard S. Finkel,Eugenio Mercuri,Basil T. Darras,Anne M. Connolly,Nancy L. Kuntz,Janbernd Kirschner,Claudia A. Chiriboga,Kayoko Saito,Laurent Servais,Eduardo F. Tizzano,Haluk Topaloglu,Mar Tulinius,Jacqueline Montes,Allan M. Glanzman,Kathie M. Bishop,Z. John Zhong,Sarah Gheuens,C. Frank Bennett,Eugene Schneider,Wildon Farwell,Darryl C. De Vivo,Walter G. Bradley,M. K. Schroth,J. B. Bodensteriner,C. S. Davis,R. Shell,J. Hen,E. D. Austin,S. Aziz-Zaman,J. Cappell,Andrei Constantinescu,Rosangel Cruz,Jahannaz Dastgir,Sally Dunaway,K. Engelstad,M. Gormley,N. Holuba La Marca,Alexander G. Khandji,S. Kramer,Jonathan Marra,C. Ortiz-Miller,M. Popolizio,Rachel Salazar,L. Sanabria,L. Weimer,Pallavi Anand,R. Gadeken,Paul T. Golumbek,Catherine Siener,Craig M. Zaidman,Fouad Al-Ghamdi,C. Berde,Partha S. Ghosh,Robert J. Graham,Tim Harrington,A. Koka,R. Laine,W. Liew,Elizabeth Mirek,G. Ordonez,Amy Pasternak,Janet Quigley,Navil F. Sethna,M. Souris,Heather Szelag,L. Wand,John W. Day,Genevieve D'Souza,T. T. Duong,Richard Gee,J. Kitsuwa-Lowe,D. McFall,S. Patnaik,S. Paulose,Jennifer Perez,Christopher Proud,B. Purse,R. J. Ramamurthi,Sarada Sakamuri,Jacinda B. Sampson,B. Sanjanwala,A. C. Tesi Rocha,K. Watson,L. Welsh,L.D.M. Peña,Laura E. Case,J. Coates,Stephanie DeArmey,M. M. Homi,C. Milleson,N. Nelson,Alexandra C. Ross,Edward C. Smith,B. Taicher,J. Wootton,Erika Finanger,D. Benjamin,A. Frank,Catherine E. Roberts,Barry S. Russman,K. Zilke,D. Berry,Matthew Civitello,D. Cook,J. D. Endsley,C. Johnson,M. Kasper,W. Leon,A. Lim,K. O'Reardon,L. Y. Sigurdardottir,J. Turner,F. Weber-Guzman,M. Zinn,Susan T. Iannaccone,Diana Castro,M. Cowie,Alan C Farrow-Gillespie,A. Herbert,M. Kauk,D. McElroy,N. Miller,Leslie Nelson,Luke Smith,T. Spain,S. Trest,Nicholas E. Johnson,Russell J. Butterfield,D. DiBella,K. Mayne,T. M. Newcomb,N. Rausch,C. Blomgren,H. W. Choi,Leon G. Epstein,S. Goldman,Kristin J. Krosschell,Jena M. Krueger,Jonathan E. Kurz,Vamshi K. Rao,Julie A. Parsons,V. Allen,Alan Bielsky,K. Booker,A. Camuto,Terri Carry,Peter G. Fuhr,Melissa Gibbons,J. Janas,H. Johnson,C. Kelly,L. S. Lord-Halvorson,S. Nicolarsen,S. Shea,V. Tran,G. VanderVeen,M. Yang,C. Zimmerman,Perry B. Shieh,N. Parziale,L. Rao,J. W. Said,F. Shu,C. Skura,L. Staudt,Gihan Tennekoon,L. Adang,John F. Brandsema,M. Chadehumbe,Jean Flickinger,Elizabeth Kichula,D. Stanford,M. Toms,J. Zigmont,Maryam Oskoui,S. Arpin,P. Dinunzio,P. M. Ingelmo,C. Poulin,G. Rivera,C. Sabapathy,M. Srour,S. Turgeon-Desilet,D. Zielinski,Kathryn Selby,C. King,J. Lee,A. Michoulas,E. Roland,Jiri Vajsar,V. Chau,James J. Dowling,R. Haldenby,M. Miki,S. So,S. I. Pascual Pascual,A. Martinez Bermejo,S. Epinosa Garcia,S. Garcia Guixot,M. M. Martinez Moreno,M. del Pilar Tirado Requero,M. del Mar Garcia Romero,C. Aguilar,F. Munell Casadesus,M. B. Gomez Garcia de la Banda,M. Gallardo,G. Gili,M. Alavarez Molinero,M. de Los Angeles Tormos Munoz,N. J. Palacios,B. Planas Pascual,M. del Mar Melendez Plumed,A. F. Rucian,E. Toro Tamargo,M. Gratacos Vinola,S. Borell,Matthias Eckenweiler,Marcus Krüger,Astrid Pechmann,B. Rippberger,S. Stein,Sibylle Vogt,S. Wider,Ulrike Schara,B. Andres,A. Della Marina,A. Ganfuss,P. Jachertz,Heike Koelbel,K. Rupprich,E. S. Schroers,N. Sponemann,Claudio Bruno,Chiara Fiorillo,Alberto Garaventa,Paola Lanteri,Valentina Lanzillotta,C. Manzitti,M. Pedermonte,Paola Tacchetti,Federica Trucco,A. Zuffi,R. De Sanctis,Lavinia Fanelli,Marco Luigetti,Concetta Palermo,Marika Pane,Marco Piastra,Serena Sivo,E. Gargaun,Teresa Gidaro,S. Gilabert,P. L. Léger,A. G. Le Moing,C. Lilien,Michèle Mayer,Q. Ollievier,J. Rambaud,Jessica Taytard,R. Vialle,T. Voit,Francesco Muntoni,L. D'Argenzio,PH Lister,Adnan Y. Manzur,J. Pisco Domingos,Danielle Ramsey,Valeria Ricotti,L. Schottlaender,Mariacristina Scoto,S. M. Scuplak,V. Selby,Volker Straub,S. Baily,Marta Bertoli,A. Mayhew,Robert Muni Lofra,Adrian Murphy,Claire L Wood,Niklas Darin,J. Eldblom,E. Kimber,A. K. Kroksmark,A. Lindstedt,E. Michael,Kalliopi Sofou,Nicolas Deconinck,A. Christiaens,Sandra Coppens,K. DeCock,E. De Vos voor,F. Dorban,G. Gilbert,S. Rooze,V. Tahon,R. Van Coster,R. Van Der Looven,Arnaud Vanlander,D. Vens,Helene Verhelst,B. Wenderickx,S. Wittevrongel,Michelle A. Farrar,N. Berthon-Jones,Michael Doumit,Karen Herbert,Tejaswi Kandula,Margot Morrison,J. O'Brien,S. Richardson,H. A. Ferreira Sampaio,H. L. Teoh,Monique M. Ryan,K. Carroll,K. L. De Valle,D. Villano,Ian R. Woodcock,E. M. Yiu,Didem Ardicli,C. Gunbey,V. G. Haliloglu,Ayşe Karaduman,Bahadır Konuşkan,F. G. Yildiz Sarikaya,E. Serdaroglu,M. Tanyildiz,C. M. Temucin,Mirac Yildirim,Öznur Yilmaz,R. Arakawa,Y. Chiba,K. Eto,K. Hirasawa,T. Ikai,S. Ito,Y. Ito,Y. Kaburagi,H. Kaneko,S. Matsumaru,N. Matsushima,K. Mizuochi,S. Nagata,H. Nakatsukasa,A. Nishikawa,Y. Otani,T. Sato,M. Shichiji,K. Sugimoto,A. Takeshita,T. Yanagishita,A. Yamauchi,Y. Takeshima,T. Fujino,N. Fukuda,T. Lee,K. Oriyama,T. Shibano,H. Shimomura,T. Tachikawa,Y. Tanaka,N. Taniguchi,Jong-Hee Chae,S. A. Choi,S. M. Chun,H. Jo,H. Kim,S. Y. Kim,J. S. Lee,B. C. Lim,Hyung Ik Shin,W. S. Son,Sophelia H. S. Chan,A. C. Chung,C. S. Yan,C. Stella,C. K.W. Joseph,C. S. Ng,H. C.C. Alvin,I. J.K. Janice,L. W.M. Wendy,M. N. Chui-San,N. Y. Ki,T. N. Shun,W. Y. Connie,W. C. Virginia,Y. Yvonne,Y. J. Jong,Tai-Heng Chen,P. C. Chou,Y. H. Chou,H. W. Chung,J. H. Hsu,Y. H. Ju,W. C. Liang,H. H. Shih,H. Y. Wang,Y. C. Wu,Y. S. Zeng +397 more
TL;DR: Those who received nusinersen were more likely to be alive and have improvements in motor function than those in the control group and infants with a shorter disease duration at screening wereMore likely than those with a longer disease duration to benefit from nusineren.
Journal ArticleDOI
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy
Eugenio Mercuri,Basil T. Darras,Claudia A. Chiriboga,John W. Day,Craig Campbell,Anne M. Connolly,Susan T. Iannaccone,Janbernd Kirschner,Nancy L. Kuntz,Kayoko Saito,Perry B. Shieh,Mar Tulinius,Elena S. Mazzone,Jacqueline Montes,Kathie M. Bishop,Qingqing Yang,Richard Foster,Sarah Gheuens,C. Frank Bennett,Wildon Farwell,Eugene Schneider,Darryl C. De Vivo,Richard S. Finkel +22 more
TL;DR: Among children with later‐onset SMA, those who received nusinersen had significant and clinically meaningful improvement in motor function as compared with those in the control group.
Journal ArticleDOI
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.
Feng Zhang,Mehrdad Khajavi,Anne M. Connolly,Charles F. Towne,Sat Dev Batish,James R. Lupski,James R. Lupski +6 more
TL;DR: Evidence is provided that human genomic rearrangements ranging in size from several megabases to a few hundred base pairs can be generated by FoSTeS/MMBIR, suggesting an important role in both genome and single-gene evolution.
Journal ArticleDOI
Ataluren treatment of patients with nonsense mutation dystrophinopathy
Katharine Bushby,Richard S. Finkel,Brenda Wong,Richard J. Barohn,Craig Campbell,Giacomo P. Comi,Anne M. Connolly,John W. Day,Kevin M. Flanigan,Nathalie Goemans,Kristi J. Jones,Eugenio Mercuri,Ros Quinlivan,James B. Renfroe,Barry S. Russman,Monique M. Ryan,Mar Tulinius,Thomas Voit,Steven A. Moore,H. Lee Sweeney,Richard T. Abresch,Kim L. Coleman,Michelle Eagle,Julaine Florence,Eduard Gappmaier,Allan M. Glanzman,Erik K Henricson,Jay A. Barth,Gary Elfring,A. Reha,R. Spiegel,Michael W. O'donnell,Stuart W. Peltz,Craig M. McDonald +33 more
TL;DR: As the first investigational new drug targeting the underlying cause of nm‐dystrophinopathy, ataluren offers promise as a treatment for this orphan genetic disorder with high unmet medical need.
Journal ArticleDOI
Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations
Ichizo Nishino,Antonella Spinazzola,A. Papadimitriou,S Hammans,I Steiner,Cecil D. Hahn,Anne M. Connolly,Alain Verloes,J Guimarães,Ivan Maillard,H Hamano,M.A. Donati,Carol E. Semrad,James A. Russell,Antonio L. Andreu,Georgios M. Hadjigeorgiou,Tuan Vu,Saba Tadesse,T. G. Nygaard,Ikuya Nonaka,I Hirano,Eduardo Bonilla,Lewis P. Rowland,Salvatore DiMauro,Michio Hirano +24 more
TL;DR: Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive disorder defined clinically by severe gastrointestinal dysmotility; cachexia; ptosis, ophthalmoparesis, or both; peripheral neuropathy; leukoencephalopathy; and mitochondrial abnormalities.