基本信息
浏览量:12
职业迁徙
个人简介
Clinical and laboratory research interests: Neurodegeneration, Peripheral Nerve Disease, Ataxia, Neurogenetics, Neurorehabilitation The combination of genetic, functional cell biology and neuropathological methods is a particularly powerful approach for understanding neurological diseases and their pathological processes. Given the rapid advances in genetic technology and knowledge, the analysis of RNA, protein expression and protein interactions in human tissue will become central to neurological research. It is likely that the next 10 years will see the development of treatments for human diseases based on these advances. Therefore, the collection of clinically characterised neuropathological material is pivotal to future research. My research group are carrying out a programme of genetic and pathological investigations into human neurodegeneration. We have recently identified two ataxia genes and we are working on a number of disease genes in ataxia, peripheral neuropathy, parkinson's disease and dementia. These genetic and neuropathological studies integrating functional in vitro research will translate this research into disease modifying treatment for human diseases.
研究兴趣
论文共 1331 篇作者统计合作学者相似作者
按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
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
Neuropediatrics NEP 49th Annual Meeting of the Society for Neuropediatrics 2024 (2024)
Reza Maroofian,Mina Zamani,Rauan Kaiyrzhanov,Lutz Liebmann,Ehsan Ghayoor Karimiani,Barbara Vona,Antje K. Huebner,Daniel G. Calame,Vinod K. Misra,Saeid Sadeghian,Reza Azizimalamiri, Mohammad Hasan Mohammadi,Jawaher Zeighami,Sogand Heydaran,Mehran Beiraghi Toosi,Javad Akhondian,Meisam Babaei,Narges Hashemi,Rhonda E. Schnur,Mohnish Suri, Jonas Setzke,Matias Wagner,Theresa Brunet,Christopher M. Grochowski,Lisa Emrick,Wendy K. Chung,Ute A. Hellmich,Miriam Schmidts,James R. Lupski,Hamid Galehdari,Mariasavina Severino,Henry Houlden,Christian A. Huebner
GENETICS IN MEDICINEno. 3 (2024)
Scott Barish, Sheng-Jia Lin, Reza Maroofian, Alper Gezdirici, Hamoud Alhebby, Aurélien Trimouille, Marta Biderman Waberski, Tadahiro Mitani, Ilka Huber,Kristian Tveten, Øystein L Holla, Øyvind L Busk,Henry Houlden,Ehsan Ghayoor Karimiani, Mehran Beiraghi Toosi, Reza Shervin Badv, Paria Najarzadeh Torbati, Fatemeh Eghbal, Javad Akhondian, Ayat Al Safar,Abdulrahman Alswaid,Giovanni Zifarelli, Peter Bauer,Dana Marafi, Jawid M Fatih, Kevin Huang,Cassidy Petree, Daniel G Calame, Charlotte von der Lippe, Fowzan S Alkuraya, Sami Wali,James R Lupski, Gaurav K Varshney, Jennifer E Posey,Davut Pehlivan
American journal of human geneticsno. 11 (2024): 2566-2581
Delia Gagliardi, Chris Clarkson, Ainara Salazar Villacorta,Alistair Pagnamenta,Jing Yu,Henry Houlden,Arianna Tucci
引用0浏览0引用
0
0
Handbook of clinical neurology (2024): 111-131
Raffaella De Pace,Reza Maroofian, Adeline Paimboeuf,Mina Zamani,Maha S. Zaki,Saeid Sadeghian,Reza Azizimalamiri,Hamid Galehdari,Jawaher Zeighami,Chad D. Williamson,Emily Fleming,Dihong Zhou,Jennifer L. Gannon,Isabelle Thiffault,Emmanuel Roze,Mohnish Suri,Giovanni Zifarelli,Peter Bauer,Henry Houlden,Mariasavina Severino,Shunmoogum A. Patten,Emily Farrow,Juan S. Bonifacino
BRAINno. 5 (2024): 1751-1767
NPJ PARKINSONS DISEASEno. 1 (2024)
Stephanie Efthymiou,Wenyan Han,Muhammad Ilyas,Jun Li,Yichao Yu,Marcello Scala,Nancy T. Malintan,Nikoleta Vavouraki,Kshitij Mankad,Reza Maroofian,Clarissa Rocca,Vincenzo Salpietro,Shenela Lakhani,Eric J. Mallack,Timothy Blake Palculict,Hong Li,Guojun Zhang,Faisal Zafar,Nuzhat Rana,Noriko Takashima,Hayato Matsunaga,Claudia Manzoni,Pasquale Striano,Mark F. Lythgoe,Jun Aruga,Wei Lu,Henry Houlden
Stephanie Efthymiou,Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska,Fenne L. Komdeur, Robin A. Liang,Mohamed S. Abdel-Hamid, Tipu Sultan,Tuva Baroy,Marijke Van Ghelue,Barbara Vona,Reza Maroofian,Faisal Zafar,Fowzan S. Alkuraya,Maha S. Zaki,Mariasavina Severino, Kingsley C. Duru,Robert C. Tryon, Lin Vigdis Brauteset,Morad Ansari,Mark Hamilton,Mieke M. van Haelst,Gijs van Haaften,Federico Zara,Henry Houlden,Eric Samarut,Colin G. Nichols,Marie F. Smeland,Conor Mcclenaghan
BRAINno. 5 (2024): 1822-1836
Tipu Sultan,Giovanna Scorrano,Marta Panciroli,Marilena Christoforou,Javeria Raza Alvi,Armando Di Ludovico, Sameen Qureshi,Stephanie Efthymiou,Vincenzo Salpietro,Henry Houlden
GENE (2024)
加载更多
作者统计
#Papers: 1332
#Citation: 48184
H-Index: 96
G-Index: 196
Sociability: 9
Diversity: 3
Activity: 491
合作学者
合作机构
D-Core
- 合作者
- 学生
- 导师
数据免责声明
页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果,我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问,可以通过电子邮件方式联系我们:report@aminer.cn