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论文共 109 篇作者统计合作学者相似作者

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PURA-Related Developmental and Epileptic Encephalopathy
Katrine M. Johannesen,Elena Gardella,Cathrine E. Gjerulfsen,Allan Bayat,Rob P. W. Rouhl,Margot Reijnders,Sandra Whalen,Boris Keren,Julien Buratti,Thomas Courtin,Klaas J. Wierenga,Bertrand Isidor,Amelie Piton,Laurence Faivre,Aurore Garde,Sebastien Moutton,Frederic Tran-Mau-Them,Anne-Sophie Denomme-Pichon,Christine Coubes,Austin Larson,Michael J. Esser,Juan Pablo Appendino,Walla Al-Hertani,Beatriz Gamboni,Alejandra Mampel,Lia Mayorga,Alessandro Orsini,Alice Bonuccelli,Agnese Suppiej,Julien Van-Gils,Julie Vogt,Simona Damioli,Lucio Giordano,Stephanie Moortgat,Elaine Wirrell,Sarah Hicks,Usha Kini,Nathan Noble,Helen Stewart,Shailesh Asakar,Julie S. Cohen,SakkuBai R. Naidu,Ashley Collier,Eva H. Brilstra,Mindy H. Li,Casey Brew,Stefania Bigoni,Davide Ognibene,Elisa Ballardini,Claudia Ruivenkamp,Raffaella Faggioli,Alexandra Afenjar,Diana Rodriguez,David Bick,Devorah Segal,David Coman,Boudewijn Gunning,Orrin Devinsky,Laurie A. Demmer,Theresa Grebe,Dario Pruna,Ida Cursio,Lynn Greenhalgh,Claudio Graziano,Rahul Raman Singh,Gaetano Cantalupo,Marjolaine Willems,Sangeetha Yoganathan, Fernanda Goes,Richard J. Leventer,Davide Colavito,Sara Olivotto,Barbara Scelsa,Andrea V. Andrade,Kelly Ratke,Farha Tokarz,Atiya S. Khan,Clothilde Ormieres,William Benko,Karen Keough,Sotirios Keros,Shanawaz Hussain,Ashlea Franques,Felicia Varsalone,Sabine Gronborg,Cyril Mignot,Delphine Heron,Caroline Nava,Arnaud Isapof,Felippe Borlot,Robyn Whitney,Anne Ronan,Nicola Foulds,Marta Somorai,John Brandsema,Katherine L. Helbig,Ingo Helbig,Xilma R. Ortiz-Gonzalez,Holly Dubbs,Antonio Vitobello,Mel Anderson,Dominic Spadafore,David Hunt,Rikke S. Moller,Guido Rubboli
NEUROLOGY-GENETICSno. 6 (2021)
引用0浏览0引用
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PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum
Katrine M Johannesen,Elena Gardella,Cathrine E Gjerulfsen,Allan Bayat,Rob P W Rouhl,Margot Reijnders,Sandra Whalen,Boris Keren,Julien Buratti,Thomas Courtin,Klaas J Wierenga,Bertrand Isidor,Amélie Piton,Laurence Faivre,Aurore Garde,Sébastien Moutton,Frédéric Tran-Mau-Them,Anne-Sophie Denommé-Pichon,Christine Coubes,Austin Larson,Michael J Esser,Juan Pablo Appendino,Walla Al-Hertani,Beatriz Gamboni,Alejandra Mampel,Lía Mayorga,Alessandro Orsini,Alice Bonuccelli,Agnese Suppiej,Julien Van-Gils,Julie Vogt,Simona Damioli,Lucio Giordano,Stephanie Moortgat,Elaine Wirrell,Sarah Hicks,Usha Kini,Nathan Noble,Helen Stewart,Shailesh Asakar,Julie S Cohen,SakkuBai R Naidu,Ashley Collier,Eva H Brilstra,Mindy H Li,Casey Brew,Stefania Bigoni,Davide Ognibene,Elisa Ballardini,Claudia Ruivenkamp,Raffaella Faggioli,Alexandra Afenjar,Diana Rodriguez,David Bick,Devorah Segal,David Coman,Boudewijn Gunning,Orrin Devinsky,Laurie A Demmer,Theresa Grebe,Dario Pruna,Ida Cursio,Lynn Greenhalgh,Claudio Graziano,Rahul Raman Singh,Gaetano Cantalupo,Marjolaine Willems,Sangeetha Yoganathan,Fernanda Góes,Richard J Leventer,Davide Colavito,Sara Olivotto,Barbara Scelsa,Andrea V Andrade,Kelly Ratke,Farha Tokarz,Atiya S Khan,Clothilde Ormieres,William Benko,Karen Keough,Sotirios Keros,Shanawaz Hussain,Ashlea Franques,Felicia Varsalone,Sabine Grønborg,Cyril Mignot,Delphine Heron,Caroline Nava,Arnaud Isapof,Felippe Borlot,Robyn Whitney,Anne Ronan,Nicola Foulds,Marta Somorai,John Brandsema,Katherine L Helbig,Ingo Helbig,Xilma R Ortiz-González,Holly Dubbs,Antonio Vitobello,Mel Anderson,Dominic Spadafore,David Hunt,Rikke S Møller,Guido Rubboli
Neurology Genetics（2021）
引用16浏览0WOS引用
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Hugo Wolfgang Moser
Sakkubai Naidu,Ann B. Moser
Child Neurologypp.821-823, (2021)
引用0浏览0引用
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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
Felixe Pelletier,Stefanie Perrier,Ferdy K. Cayami,Amytice Mirchi,Stephan Saikali,Luan T. Tran,Nicole Ulrick,Kether Guerrero,Emmanouil Rampakakis,Rosalina M. L. van Spaendonk,Sakkubai Naidu,Daniela Pohl,William T. Gibson,Michelle Demos,Cyril Goizet,Ingrid Tejera-Martin,Ana Potic,Brent L. Fogel,Bernard Brais,Michel Sylvain,Guillaume Sebire,Charles Marques Lourenco,Joshua L. Bonkowsky,Coriene Catsman-Berrevoets,Pedro S. Pinto,Sandya Tirupathi,Petter Stromme,Ton de Grauw,Dorota Gieruszczak-Bialek,Ingeborg Krageloh-Mann,Hanna Mierzewska,Heike Philippi,Julia Rankin,Tahir Atik,Brenda Banwell,William S. Benko,Astrid Blaschek,Annette Bley,Eugen Boltshauser,Drago Bratkovic,Klara Brozova, Iciar Cimas, Christopher Clough,Bernard Corenblum,Argirios Dinopoulos, Gail Dolan,Flavio Faletra, Raymond Fernandez,Janice Fletcher, Garcia,Paolo Gasparini,Janina Gburek-Augustat,Dolores Gonzalez Moron, Aline Hamati,Inga Harting,Christoph Hertzberg,Alan Hill,Grace M. Hobson,A. Micheil Innes,Marcelo Kauffman,Susan M. Kirwin,Gerhard Kluger, Petra Kolditz,Urania Kotzaeridou,Roberta La Piana,Eriskay Liston,William McClintock,Meriel McEntagart,Fiona McKenzie,Serge Melancon,Anjum Misbahuddin,Mohnish Suri,Fernando Monton,Sebastien Moutton, Raymond P. J. Murphy,Miriam Nickel,Huseyin Onay,Simona Orcesi,Ferda Ozkinay,Steffi Patzer,Helio Pedro,Sandra Pekic,Mercedes Pineda Marfa,Amy Pizzino,Barbara Plecko,Bwee Tien Poll-The,Vera Popovic,Dietz Rating,Marie-France Rioux,Norberto Rodriguez Espinosa,Anne Ronan,John R. Ostergaard,Elsa Rossignol,Rocio Sanchez-Carpintero,Anna Schossig,Nesrin Senbil,Laura K. Sonderberg Roos,Cathy A. Stevens,Matthis Synofzik,Laszlo Sztriha,Daniel Tibussek,Dagmar Timmann,Davide Tonduti,Bart P. van de Warrenburg,Maria Vazquez-Lopez,Sunita Venkateswaran,Pontus Wasling,Evangeline Wassmer, Richard Webster,Gert Wiegand,Grace Yoon,Joost Rotteveel,Raphael Schiffmann,Marjo S. van der Knaap,Adeline Vanderver,Gabriel A. Martos-Moreno,Constantin Polychronakos,Nicole Wolf,Genevieve Bernard
The Journal of Clinical Endocrinology & Metabolismno. 2 (2020): e660-e674
引用31浏览0WOS引用
31
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Loss-of-function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy
Holger Hengel,Célia Bosso-Lefèvre,George Grady,Emmanuelle Szenker-Ravi,Hankun Li,Sarah Pierce,Élise Lebigot,Thong-Teck Tan, Michelle Y. Eio,Gunaseelan Narayanan,Kagistia Hana Utami, Monica Yau,Nader Handal,Werner Deigendesch,Reinhard Keimer,Hiyam M. Marzouqa,Meral Gunay-Aygun,Michael J. Muriello,Helene Verhelst,Sarah Weckhuysen,Sonal Mahida,Sakkubai Naidu,Terrence G. Thomas,Jiin Ying Lim,Ee Shien Tan,Damien Haye,Michèl A. A. P. Willemsen,Renske Oegema,Wendy G. Mitchell,Tyler Mark Pierson,Marisa V. Andrews,Marcia C. Willing,Lance H. Rodan,Tahsin Stefan Barakat,Marjon van Slegtenhorst,Ralitza H. Gavrilova,Diego Martinelli,Tal Gilboa,Abdullah M. Tamim,Mais O. Hashem,Moeenaldeen D. AlSayed,Maha M. Abdulrahim,Mohammed Al-Owain,Ali Awaji,Adel A. H. Mahmoud,Eissa A. Faqeih,Ali Al Asmari, Sulwan M. Algain,Lamyaa A. Jad,Hesham M. Aldhalaan,Ingo Helbig,David A. Koolen,Angelika Riess,Ingeborg Kraegeloh-Mann,Peter Bauer,Suleyman Gulsuner,Hannah Stamberger,Alvin Yu Jin Ng,Sha Tang,Sumanty Tohari,Boris Keren,Laura E. Schultz-Rogers,Eric W. Klee,Sabina Barresi,Marco Tartaglia,Hagar Mor-Shaked,Sateesh Maddirevula,Amber Begtrup,Aida Telegrafi,Rolph Pfundt,Rebecca Schüle,Brian Ciruna,Carine Bonnard,Mahmoud A. Pouladi,James C. Stewart,Adam Claridge-Chang,Dirk J. Lefeber,Fowzan S. Alkuraya,Ajay S. Mathuru,Byrappa Venkatesh,Joseph J. Barycki,Melanie A. Simpson,Saumya S. Jamuar,Ludger Schöls,Bruno Reversade
Nature Communications（2020）
引用42浏览0WOSNATURE引用
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作者统计

#Papers: 109

#Citation: 3702

H-Index: 32

G-Index: 60

Sociability: 7

Diversity: 3

Activity: 3

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