سه شنبه ۱۲ مهر ۱۴۰۱ -
دکتر حسین درویش
Dr Hossein Darvish
۱. Paulina Bahena, Narsis Daftarian, Reza Maroofan, (...), Hossein Darvish, (...), Thomas Haaf. Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment. Human Genetics. ۲۰۲۱: ۱-۱۹
۲. Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, (...), Hossein Darvish, (...), Jan Senderek. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain. ۲۰۲۱: ۱۴۴ (۵); ۱۴۲۲-۱۴۳۴
۳. Hossein Darvish, Luis J. Azcona, Shaghayegh Taghavi, Saghar Ghasemi Firouzabadi, Abbas Tafakhori, Elham Alehabib, Fatemeh Mohajerani, Safoura Zardadi, Coro Paisán-Ruiz. ANXA۱ with anti-inflammatory properties might contribute to parkinsonism. Annals of Neurology. ۲۰۲۱: in press
۴. Somayeh Bakhtiari, Abbas Tafakhori, Sheng Chih Jin, Brandon S Guida, Elham Alehabib, Saghar Firouzbadi, Kaya Bilguvar, Michael C Fahey, Hossein Darvish, Michael C Kruer. Recessive COL۴A۲ Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy. Neurology Genetics. ۲۰۲۱: in press
۵. Daniel G. Calame, Somayeh Bakhtiari, Rachel Logan, (...), Hossein Darvish, (...), James R. Lupski. Biallelic loss-of-function variants in the splicing regulator NSRP۱ cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy. Genetics in Medicine. ۲۰۲۱: in press
۶. Tomislav Kokotovic, Michiel Langeslag Ewelina M. Lenartowicz, John Manion, Christopher W. Fell, Elham Alehabib, Abbas Tafakhori, Hossein Darvish, Eric J. Bellefroid, G. Gregory Neely, Michaela Kress, Josef M. Penninger and Vanja Nagy. PRDM۱۲ Is Transcriptionally Active and Required for Nociceptor Function Throughout Life. Frontiers in Molecular Neuroscience. ۲۰۲۱: in press
۷. Elham Alehabib, Zahra Esmaeilizadeh, Sakineh Ranji‑Burachaloo, Abbas Tafakhori, Hossein Darvish and Abolfazl Movafagh. Clinical and molecular spectrum of P/Q type calcium channel Cav۲.۱ in epileptic patients. Orphanet Journal of Rare Diseases. ۲۰۲۱: ۱۶; ۴۶۱
۸. Francesca Mattioli, Hossein Darvish, Sohail Aziz Paracha, Abbas Tafakhori, Saghar Ghasemi Firouzabadi, Marjan Chapi, Hafiz Muhammad Azhar Baig, Alexandre Reymond, Stylianos E. Antonarakis and Muhammad Ansar. Biallelic truncation variants in ATP۹A are associated with a novel autosomal recessive neurodevelopmental disorder. NPJ Genomic Medicine. ۲۰۲۱: ۶; ۹۴
۹. Walid Fazeli, Daniel Bamborschke, Abubakar Moawia, Somayeh Bakhtiari, Abbas Tafakhori, Matthias Giersdorf, Andreas Hahn, Anja Weik, Kirsten Kolzter, Sajad Shafiee, Sheng Chih Jin, Friederike K€orber, Min Ae Lee-Kirsch, Hossein Darvish, Sebahattin Cirak, Michael C. Kruer, Anne Koy. The phenotypic spectrum of PCDH۱۲ associated disorders - Five new cases and review of the literature. European Journal of Paediatric Neurology. ۲۰۲۲: ۳۶; ۷-۱۳
۱۰. Elham Alehabib, Tomislav Kokotović, Sakineh Ranji-Burachaloo, Abbas Tafakhori, Samira Molaei Ramshe, Zahra Esmaeilizadeh, Hossein Darvish, Abolfazl Movafagh, Vanja Nagy. Leu۲۲۶Trp CACNA۱A variant associated with juvenile myoclonic epilepsy with and without intellectual disability. Clinical Neurology and Neurosurgery. ۲۰۲۲: ۲۱۳
۱۱. Alireza Shaygannejad, Behnoush Sohrabi, Shima Rahimi Rad, Farzaneh Yousefisadr, Hossein Darvish, Mohsen Soosanabadi. Promoter methylation of matrix metallopeptidase ۹ in peripheral blood mononuclear cells: A novel biomarker in a promising source for noninvasive colorectal cancer diagnosis. Journal of Cancer Research and Therapeutics. ۲۰۲۲: in press
۱۲. Klöckner C, Murray JPF, Tavasoli M, Sticht H, Stoltenburg-Didinger G, Scholle LM, Bakhtiari S, Kruer MC, Darvish H, Firouzabadi SG, Pagnozzi A, Shukla A, Girisha KM, Narayanan DL, Kaur P, Maroofian R, Zaki MS, Noureldeen MM, Merkenschlager A, Gburek-Augustat J, Cali E, Banu S, Nahar K, Efthymiou S, Houlden H, Jamra RA, Williams J, McMaster CR, Platzer K. Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly. Brain. ۲۰۲۲: in press
۱۳. Yousef Daneshmandpour, Zahra Bahmanpour, Somayeh Kazeminasab, Ehsan Aghaei Moghadam, Elham Alehabib, Marjan Chapi, Abbas Tafakhori, Negar Aghaei, Hossein Darvish, Babak Emamalizadeh. A novel mutation in the ALS۲ gene in an iranian kurdish family with juvenile amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. ۲۰۲۲