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Papers共 129 篇Author StatisticsCo-AuthorSimilar Experts

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Mutations in EPG5 Are Associated with a Wide Spectrum of Neurodevelopmental and Neurodegenerative Disorders
Hormos Salimi Dafsari,Celine Deneubourg,Kritarth Singh,Reza Maroofian, Zita Suprenant,Ay Lin Kho,Neil J Ingham, Karen P Steel,Preethi Sheshadri, Franciska Baur, Lea Hentrich,Birgit Gerisch,Mina Zamani,Cesar Alves,Ata Siddiqui,Haidar S Dafsari,Mehri Salari, Anthony Lang,Michael Harris,Alice Abdelaleem,Saeid Sadeghian, Reza Azizalamiri,Hamid Galehdari,Gholamreza Shariati,Alireza Sedaghat,Jawaher Zeighami,Daniel Calame,Dana Marafi,Ruizhi Duan, Adrian Boehnke, Carrie Mohila,Dora Steel, Saurabh Chopra,Suvasini Sharma,Nicolai Kohlschmidt,Steffi Patzer,Afshin Saffari,Darius Ebrahimi-Fakhari, Buesra Eser Cavdartepe,Irene J. Chang,Erika Beckman, Renate Peters,Andrew Paul Fennell,Bernice Lo,Luisa Averdunk,Felix Distelmaier,Martina Baethmann,Frances Elmslie, Karit Joost,Sheela Nampoothiri,Dhanya Yesodharan, Hannah Mandel,Amy Kimball,Antonie D. Kline,Cyril Mignot,Boris Keren,Vincent Laugel,Katrin Ounap,Kalpana Devadathan, Frederique M.C. van Berkestijn, Arpana Silwal,Saskia Koene,Sumit Verma,Mohammed Yousuf Karim, Chahynez Boubidi, Majid Aziz,Gehad ElGhazali, Lauren Mattas,Mohammad Miryounesi,Farzad Hashemi-Gorji,Shahryar Alavi, Nayereh Nouri, Mehrdad Noruzinia, Saeedeh Kavousi,Arveen Kamath,Sandeep Jayawant,Russell Saneto,Nourelhoda A. Haridy,Pinar Ozkan Kart,Ali Cansu,Claire Beneteau,Kyra E. Stuurman,Martina Wilke,Tahsin Stefan Barakat,Homa Tajsharghi,Annarita Scardamaglia,Sadeq Vallian,Semra Hiz,Ali Shoeibi,Reza Boostani,Narges Hashemi,Meisam Babaei, Norah Saleh Alsaleh, Julie Lander,Tania Attie-Bitach,Pauline Marzin,Dorota Wicher,Jessica I Gold,Mariana H G Monje,Dimitri Krainc,Niccolo Mencacci,Somayeh Bakhtiari,Michael C Kruer,Emanuela Argilli,Elliott Sherr,Yalda Jamshidi,Ehsan Ghayoor Karimiani,Yiu Wing Sunny Cheung,Ivan Karin,Wendy K. Chung,James R. Lupski,Manju A. Kurian,Joerg Doetsch,Juergen-Christoph von Kleist-Retzow, Thomas Klopstock,Matias Wagner,Calvin K. Yip,Andreas Roos,Carlo Dionisi-Vici,Mathias Gautel,Michael R Duchen, Adam Antebi,Henry Houlden,Manolis Fanto,Heinz Jungbluth
medRxiv (Cold Spring Harbor Laboratory) (2024)
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Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity
Reza Maroofian,Payam Sarraf, Thomas J O’Brien,Mona Kamel,Arman Cakar, Nour Elkhateeb,Tracy Lau, Siddaramappa Jagdish Patil, Christopher J Record, Alejandro Horga, Miriam Essid, Laila Selim,Hanene Benrhouma,Thouraya Ben Younes,Giovanni Zifarelli,Alistair T Pagnamenta,Peter Bauer, Mukhran Khundadze, Andrea Mirecki, Sara Mahmoud Kamel,Mohamed A Elmonem,Ehsan Ghayoor Karimiani,Yalda Jamshidi,Amaka C Offiah, Alexander M Rossor,Ilhem Ben Youssef-Turki, Christian A Hübner, Pinki Munot,Mary M Reilly,André E X Brown, Sara Nagy,Henry Houlden
Brain (2024)
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Bi-allelic ACBD6 Variants Lead to a Neurodevelopmental Syndrome with Progressive and Complex Movement Disorders
Rauan Kaiyrzhanov,Aboulfazl Rad,Sheng-Jia Lin,Aida Bertoli-Avella,Wouter W. Kallemeijn,Annie Godwin,Maha S. Zaki,Kevin Huang,Tracy Lau,Cassidy Petree,Stephanie Efthymiou,Ehsan Ghayoor Karimiani,Maja Hempel,Elizabeth A. Normand,Sabine Rudnik-Schoeneborn,Ulrich A. Schatz,Marc P. Baggelaar,Muhammad Ilyas,Tipu Sultan,Javeria Raza Alvi, Manizha Ganieva,Ben Fowler,Ruxandra Aanicai,Gulsen Akay Tayfun, Abdulaziz Al Saman,Abdulrahman Alswaid,Nafise Amiri, Nilufar Asilova,Vorasuk Shotelersuk,Patra Yeetong,Matloob Azam,Meisam Babaei,Gholamreza Bahrami Monajemi,Pouria Mohammadi,Saeed Samie, Selina Husna Banu,Jorge Pinto Basto,Fanny Kortuem,Mislen Bauer,Peter Bauer,Christian Beetz,Masoud Garshasbi, Awatif Hameed Issa,Wafaa Eyaid,Hind Ahmed,Narges Hashemi,Kazem Hassanpour,Isabella Herman, Sherozjon Ibrohimov,Ban A. Abdul-Majeed,Maria Imdad, Maksudjon Isrofilov, Qassem Kaiyal,Suliman Khan,Brian Kirmse,Janet Koster,Charles Marques Lourenco,Tadahiro Mitani,Oana Moldovan,David Murphy,Maryam Najafi,Davut Pehlivan,Maria Eugenia Rocha,Vincenzo Salpietro,Miriam Schmidts,Adel Shalata,Mohammad Mahroum, Jawabreh Kassem Talbeya,Robert W. Taylor, Dayana Vazquez,Annalisa Vetro,Hans R. Waterham,Mashaya Zaman,Tina A. Schrader,Wendy K. Chung,Renzo Guerrini,James R. Lupski,Joseph Gleeson,Mohnish Suri,Yalda Jamshidi, Kailash P. Bhatia,Barbara Vona,Michael Schrader,Mariasavina Severino,Matthew Guille,Edward W. Tate,Gaurav K. Varshney,Henry Houlden,Reza Maroofian
Brainno. 4 (2023): 1436-1456
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Author Statistics

#Papers: 127

#Citation: 5219

H-Index: 33

G-Index: 71

Sociability: 8

Diversity: 0

Activity: 1

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