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论文共 617 篇作者统计合作学者相似作者

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Pure Parkinsonism As Possible Phenotype Expansion of THAP1‐Related Disorders

Enrico Ambrosini, Rita Cancilla,Jefri Jeya Paul,Peter Bauer,Barbara Garavaglia,Valeria Barili,Antonio Percesepe,Anna Negrotti

Movement disorders official journal of the Movement Disorder Societyno. 6 (2024): 1072-1074

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Familial Focal Epilepsy with Variable Foci: A Novel DEPDC5 Gene Mutation

Özlem Akdogan, Sahin Avci,Peter Bauer, Candan Gürses

Neurological Sciences and Neurophysiologyno. 2 (2024): 118-120

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Ultra-rare Neurodevelopmental Disorder with Degenerative Course and Progressivemovement Disorders Associated with Biallelic ZBTB11 Variants

Juan Dario Ortigoza-Escobar,Mina Zamani,Dorison Nathalie,Saeid Sadeghian,Reza Azizimalamiri,Hamid Galehdari,Gholamreza Shariati,Alihossein Saberi,Seyed MohammadSaleh Zahraei, Niloofar Chamanrou,Andres Moreno-De-Luca,Lisette Leeuwen,Giovanni Zifarelli,Peter Bauer, Vincent d'Hardemare, Lydie Burglen,Diane Doummar,Cynthia Curry,Henry Houlden,Reza Maroofian

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 191-192

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Impact of Processed Pseudogene Insertions in Genetic Testing As Cause of Monogenic Diseases: Insertion in CLCN1 Gene Causing Myotonia Congenita

Kornelia Tripolszki,Javier Martini,Kapil Kampe,Vasiliki Karageorgou, Mohammad Al Muhaizea,Catarina Pereira, Stephanie Weissgraeber,Omid Paknia,Jorge Pinto Basto,Peter Bauer

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 524-525

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Federated Analysis of Autosomal Recessive Coding Variants in 29,745 Developmental Disorder Patients from Diverse Populations

V. Kartik Chundru,Zhancheng Zhang,Klaudia Walter,Sarah J. Lindsay,Petr Danecek,Ruth Y. Eberhardt,Eugene J. Gardner,Daniel S. Malawsky,Emilie M. Wigdor,Rebecca Torene,Kyle Retterer,Caroline F. Wright, Hildur Olafsdottir,Maria J. Guillen Sacoto,Akif Ayaz, Ismail Hakki Akbeyaz,Dilsad Tuerkdogan, Aaisha Ibrahim Al Balushi,Aida Bertoli-Avella,Peter Bauer,Emmanuelle Szenker-Ravi,Bruno Reversade,Kirsty Mcwalter,Eamonn Sheridan,Helen V. Firth,Matthew E. Hurles,Kaitlin E. Samocha, Vincent D. Ustach,Hilary C. Martin

Nature genetics（2024）

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The Clinical and Genetic Landscape of Developmental and Epileptic Encephalopathies in Egyptian Children

Nour Elkhateeb,Mahmoud Y. Issa,Hasnaa M. Elbendary,Walaa Elnaggar,Areef Ramadan,Karima Rafat,Mona Kamel,Sherif F. Abdel-Ghafar,Fawzia Amer, Hebatallah M. Hassaan,Roberta Trunzo,Catarina Pereira,Mohamed S. Abdel-Hamid,Felice D'Arco,Peter Bauer,Aida M. Bertoli-Avella,Marian Girgis,Joseph G. Gleeson,Maha S. Zaki,Laila Selim

CLINICAL GENETICSno. 5 (2024): 510-522

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Relevance of Genetic Testing in the Gene-Targeted Trial Era: the Rostock Parkinson's Disease Study

Ana Westenberger,Volha Skrahina,Tatiana Usnich,Christian Beetz,Eva-Juliane Vollstedt,Bjoern-Hergen Laabs,Jefri J. Paul,Filipa Curado,Snezana Skobalj,Hanaa Gaber,Maria Olmedillas,Xenia Bogdanovic,Najim Ameziane,Nathalie Schell,Jan Olav Aasly,Mitra Afshari,Pinky Agarwal,Jason Aldred,Fernando Alonso-Frech, Roderick Anderson, Rui Araujo,David Arkadir,Micol Avenali,Mehmet Balal,Sandra Benizri,Sagari Bette,Perminder Bhatia,Michael Bonello,Pedro Braga-Neto, Sarah Brauneis,Francisco Eduardo Costa Cardoso, Francesco Cavallieri,Joseph Classen, Lisa Cohen, Della Coletta,David Crosiers,Paskal Cullufi,Khashayar Dashtipour,Meltem Demirkiran,Patricia de Carvalho Aguiar,Anna De Rosa,Ruth Djaldetti,Okan Dogu,Maria Gabriela dos Santos Ghilardi,Carsten Eggers,Bulent Elibol,Aaron Ellenbogen,Sibel Ertan,Giorgio Fabiani, Bjoern H. Falkenburger, Simon Farrow,Tsviya Fay-Karmon, Gerald J. Ferencz, Erich Talamoni Fonoff, Yara Dadalti Fragoso,Gencer Genc, Arantza Gorospe,Francisco Grandas,Doreen Gruber,Mark Gudesblatt,Tanya Gurevich,Johann Hagenah,Hasmet A. Hanagasi,Sharon Hassin-Baer,Robert A. Hauser,Jorge Hernandez-Vara, Birgit Herting,Vanessa K. Hinson,Elliot Hogg,Michele T. Hu,Eduardo Hummelgen, Kelly Hussey,Jon Infante,Stuart H. Isaacson,Serge Jauma,Natalia Koleva-Alazeh,Gregor Kuhlenbaeumer,Andrea Kuehn,Irene Litvan,Lydia Lopez-Manzanares, McKenzie Luxmore, Sujeena Manandhar, Veronique Marcaud,Katerina Markopoulou,Connie Marras,Mark McKenzie,Michele Matarazzo,Marcelo Merello,Brit Mollenhauer,John C. Morgan,Stephen Mullin,Thomas Musacchio, Bennett Myers,Anna Negrotti,Anette Nieves,Zeev Nitsan, Nader Oskooilar,Ozgur Oztop-Cakmak,Gian Pal,Nicola Pavese,Antonio Percesepe,Tommaso Piccoli,Carolina Pinto de Souza,Tino Prell, Mark Pulera,Jason Raw,Kathrin Reetz,Johnathan Reiner, David Rosenberg,Marta Ruiz-Lopez,Javier Ruiz Martinez,Esther Sammler,Bruno Lopes Santos-Lobato,Rachel Saunders-Pullman,Ilana Schlesinger,Christine M. Schofield,Artur F. Schumacher-Schuh,Burton Scott, ngel Sesar, Stuart J. Shafer,Ray Sheridan,Monty Silverdale, Rani Sophia,Mariana Spitz,Pantelis Stathis,Fabrizio Stocchi,Michele Tagliati,Yen F. Tai, Annelies Terwecoren,Sven Thonke,Lars Toenges,Giulia Toschi,Vitor Tumas,Peter Paul Urban,Laura Vacca,Wim Vandenberghe, Enza Maria Valente, Franco Valzania,Lydia Vela-Desojo,Caroline Weill,David Weise,Joanne Wojcieszek,Martin Wolz,Gilad Yahalom,Gul Yalcin-Cakmakli,Simone Zittel,Yair Zlotnik,Krishna K. Kandaswamy,Alexander Balck,Henrike Hanssen,Max Borsche,Lara M. Lange,Ilona Csoti,Katja Lohmann,Meike Kasten, Norbert Brueggemann,Arndt Rolfs,Christine Klein,Peter Bauer

BRAINno. 8 (2024): 2652-2667

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Biallelic NAA60 Variants with Impaired N-terminal Acetylation Capacity Cause Autosomal Recessive Primary Familial Brain Calcifications

Viorica Chelban,Henriette Aksnes,Reza Maroofian,Lauren C. LaMonica,Luis Seabra, Anette Siggervåg,Perrine Devic,Hanan E. Shamseldin,Jana Vandrovcova,David Murphy,Anne-Claire Richard,Olivier Quenez,Antoine Bonnevalle,M. Natalia Zanetti,Rauan Kaiyrzhanov,Vincenzo Salpietro,Stephanie Efthymiou,Lucia V. Schottlaender,Heba Morsy,Annarita Scardamaglia,Ambreen Tariq,Alistair T. Pagnamenta, Ajia Pennavaria, Liv S. Krogstad, Åse K. Bekkelund, Alessia Caiella,Nina Glomnes,Kirsten M. Brønstad,Sandrine Tury, Andrés Moreno De Luca,Anne Boland-Auge,Robert Olaso,Jean-François Deleuze,Mathieu Anheim,Benjamin Cretin,Barbara Vona, Fahad Alajlan,Firdous Abdulwahab,Jean-Luc Battini,Rojan İpek,Peter Bauer,Giovanni Zifarelli,Serdal Gungor,Semra Hiz Kurul,Hanns Lochmuller,Sahar I. Da’as,Khalid A. Fakhro,Alicia Gómez-Pascual,Juan A. Botía,Nicholas W. Wood,Rita Horvath,Andreas M. Ernst,James E. Rothman,Meriel McEntagart,Yanick J. Crow,Fowzan S. Alkuraya,Gaël Nicolas,Henry Houlden,Thomas Arnesen

NATURE COMMUNICATIONSno. 1 (2024)

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PSMF1variants Cause a Phenotypic Spectrum from Early-Onset Parkinson's Disease to Perinatal Lethality by Disrupting Mitochondrial Pathways

Francesca Magrinelli,Christelle Tesson,Plamena R Angelova, Ainara Salazar-Villacorta,Jose A Rodriguez,Annarita Scardamaglia,Brian Hon-Yin Chung, Matthew Jaconelli,Barbara Vona,Noemi Esteras,Anna Ka-Yee Kwong,Thomas Courtin,Reza Maroofian,Shahryar Alavi,Raja Nirujogi,Mariasavina Severino,Patrick A Lewis,Stephanie Efthymiou,Benjamin O'Callaghan,Rebecca Buchert,Linda Sofan,Pawel Lis, Chloé Pinon,Guido J Breedveld, Martin Man-Chun Chui,David Murphy,Vanessa Pitz,Mary B Makarious,Marlene Cassar,Bassem A Hassan,Sana Iftikhar,Clarissa Rocca,Peter Bauer,Michele Tinazzi,Marina Svetel,Bedia Samanci,Haşmet A Hanağası,Basar Bilgiç,José A Obeso,Monica M Kurtis, Guillaume Cogan,Ayşe Nazlı Başak,Güneş Kiziltan,Tuğçe Gül, Gül Yalçın,Bülent Elibol,Nina Barišić, Earny Wei-Sen Ng, Sze-Shing Fan,Tova Hershkovitz,Karin Weiss,Javeria Raza Alvi,Tipu Sultan,Issam Azmi Alkhawaja,Tawfiq Froukh, Hadeel Abdollah E Alrukban,Christine Fauth,Ulrich A Schatz,Thomas Zöggeler,Michael Zech,Karen Stals,Vinod Varghese,Sonia Gandhi,Cornelis Blauwendraat,John A Hardy,Suzanne Lesage,Vincenzo Bonifati,Tobias B Haack,Aida M Bertoli-Avella,Robert Steinfeld,Dario R Alessi,Hermann Steller,Alexis Brice,Andrey Y Abramov, Kailash P Bhatia,Henry Houlden

medRxiv the preprint server for health sciences (2024)

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