Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Rauan Kaiyrzhanov"'
Autor:
Ruslan Akhmedullin, Adil Supiyev, Rauan Kaiyrzhanov, Alpamys Issanov, Abduzhappar Gaipov, Antonio Sarria-Santamera, Raushan Tautanova, Byron Crape
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-8 (2024)
Abstract Background Central Asia is known to face various ecological challenges that constitutes major risk factors for Parkinson’s disease (PD). This study examines the burden of PD in Central Asia, a region where data on neurological disorders is
Externí odkaz:
https://doaj.org/article/0e556ad42f1c42249339790ec7da6208
Autor:
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, SYNaPS Study Group, Thomas Arnesen, Henry Houlden
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently linked to varian
Externí odkaz:
https://doaj.org/article/1b66ac89bf354c83adcf4b0c6dc91661
Autor:
Mariam Kekenadze, Clarissa Rocca, Henry Houlden, Rauan Kaiyrzhanov, Shorena Vashadze, Maia Beridze, Sara Nagy, Nana Kvirkvelia, Valentina Turchetti, Eka Kvaratskhelia
Publikováno v:
F1000Research, Vol 12 (2024)
Background Amyotrophic lateral sclerosis (ALS) is a fatal progressive neurodegenerative disorder that affects the upper and lower motor neurons. Several genetic risk factors have been identified in the past decade with a hexanucleotide repeat expansi
Externí odkaz:
https://doaj.org/article/26d04c5df6364f4f99fc04a5d19bc465
Autor:
Saltanat Abdraimova, Zhanybek Myrzayev, Altynay Karimova, Altynay Talgatkyzy, Talgat Khaibullin, Gulnaz Kaishibayeva, Sandugash Elubaeva, Karlygash Esembekova, Dongrak Choi, Pablo Martinez-Martin, Christopher G. Goetz, Glenn T. Stebbins, Sheng Luo, Chingiz Shashkin, Nazira Zharkinbekova, Rauan Kaiyrzhanov
Publikováno v:
Clinical Parkinsonism & Related Disorders, Vol 10, Iss , Pp 100232- (2024)
Background and Purpose: The International Movement Disorder Society revision of the Unified Parkinson’s Disease Rating Scale (MDS-UPDRS) is widely used in the assessment of the severity of Parkinson’s disease (PD). This study aimed to validate th
Externí odkaz:
https://doaj.org/article/496a5217de4d4eaa9b12774c741e89d4
Autor:
Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 12, Pp 2025-2035 (2022)
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affecte
Externí odkaz:
https://doaj.org/article/711cfaa4bbdd40c88cf90df5e876adc6
Autor:
Rauan Kaiyrzhanov, Luke Perry, Clarissa Rocca, Maha S. Zaki, Heba Hosny, Cristiane Araujo Martins Moreno, Rahul Phadke, Irina Zaharieva, Clara Camelo Gontijo, Christian Beetz, Veronica Pini, Mojtaba Movahedinia, Edmar Zanoteli, Stephanie DiTroia, Sandrine Vuillaumier‐Barrot, Arnaud Isapof, Mohammad Yahya Vahidi Mehrjardi, Nasrin Ghasemi, Anna Sarkozy, Francesco Muntoni, Sandra Whalen, Barbara Vona, Henry Houlden, Reza Maroofian
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 9, Pp 1465-1474 (2022)
Abstract Ultra‐rare biallelic pathogenic variants in geranylgeranyl diphosphate synthase 1 (GGPS1) have recently been associated with muscular dystrophy/hearing loss/ovarian insufficiency syndrome. Here, we describe 11 affected individuals from fou
Externí odkaz:
https://doaj.org/article/0069e864fab94067923113299b1deef1
Autor:
Rauan Kaiyrzhanov, Clarissa Rocca, Mohnish Suri, Sughra Gulieva, Maha S. Zaki, Noa Z. Henig, Karine Siquier, Ulviyya Guliyeva, Samir M. Mounir, Daphna Marom, Aynur Allahverdiyeva, Hisham Megahed, Hans vanBokhoven, Vincent Cantagrel, Aboulfazl Rad, Alemeh Pourkeramti, Boshra Dehghani, Diane D. Shao, Keren Markus‐Bustani, Efrat Sofrin‐Drucker, Naama Orenstein, Kamran Salayev, Filippo Arrigoni, Henry Houlden, Reza Maroofian
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 7, Pp 1080-1089 (2022)
Abstract The endoplasmic reticulum membrane protein complex subunit 10 (EMC10) is a highly conserved protein responsible for the post‐translational insertion of tail‐anchored membrane proteins into the endoplasmic reticulum in a defined topology.
Externí odkaz:
https://doaj.org/article/e325a36924f6490ca000078333d8a8e5
Autor:
Rauan Kaiyrzhanov, Akbota Aitkulova, Jana Vandrovcova, David Murphy, Nazira Zharkinbekova, Chingiz Shashkin, Vadim Akhmetzhanov, Gulnaz Kaishibayeva, Altynay Karimova, Zhanybek Myrzayev, Malgorzata Murray, Talgat Khaibullin, John Hardy, Henry Houlden
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 6, Pp n/a-n/a (2021)
ABSTRACT Background Knowledge of the genetic background of many human diseases is currently lacking from genetically undiscovered regions, including Central Asia. Kazakhstan is the first Central Asian country where the genetic studies of Parkinson's
Externí odkaz:
https://doaj.org/article/cad4a07db35648faade6d7016496b8e2
Autor:
Rauan Kaiyrzhanov, Akbota Aitkulova, Chingiz Shashkin, Nazira Zharkinbekova, Mie Rizig, Elena Zholdybayeva, Zharkyn Jarmukhanov, Vadim Akhmetzhanov, Gulnaz Kaishibayeva, Talgat Khaibullin, Altynay Karimova, Serik Akshulakov, Askhat Bralov, Nurlan Kissamedenov, Zhanar Seidinova, Anjela Taskinbayeva, Aliya Muratbaikyzy, Henry Houlden
Publikováno v:
Parkinson's Disease, Vol 2020 (2020)
Background. LRRK2 mutations have emerged as the most prevalent and potentially treatable determinants of Parkinson’s disease (PD). Peculiar geographic distribution of these mutations has triggered an interest in genotyping PD cohorts of different e
Externí odkaz:
https://doaj.org/article/e1290314fb6d4c18a782d814d7b74bc4
Autor:
Rauan Kaiyrzhanov, Mie Rizig, Akbota Aitkulova, Nazira Zharkinbekova, Chingiz Shashkin, Gulnaz Kaishibayeva, Altynay Karimova, Talgat Khaibullin, Dinara Sadykova, Manizha Ganieva, Khurshidakhon Rasulova, Henry Houlden
Publikováno v:
Parkinson's Disease, Vol 2019 (2019)
Our understanding of Parkinson’s disease (PD) has significantly accelerated over the last few years, but predominant advances have been made in developed, Western countries. Little is known about PD in the Central Asian (CA) and Transcaucasian (TC)
Externí odkaz:
https://doaj.org/article/e3f28fd22b6a4a5aa21ba47e3b83688a