Zobrazeno 1 - 10
of 258
pro vyhledávání: '"MLC1"'
Autor:
Emma M. J. Passchier, Quinty Bisseling, Guy Helman, Rosalina M. L. van Spaendonk, Cas Simons, René C. L. Olsthoorn, Hieke van der Veen, Truus E. M. Abbink, Marjo S. van der Knaap, Rogier Min
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
The leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by infantile-onset macrocephaly and chronic edema of the brain white matter. With delayed onset, patients typically experience motor problems, epilep
Externí odkaz:
https://doaj.org/article/5d8759cb088045a8823df2ec24ddd0cb
Autor:
Jian Zha, Yong Chen, Fangfang Cao, Yuxin Xu, Zuozhen Yang, Shu Wen, Mengmeng Liang, Huaping Wu, Jianmin Zhong
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
Abstract Background Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare, inherited disorder that causes epilepsy, intellectual disorders, and early onset macrocephaly. MLC1 has been identified as a main pathogenic gene. Methods
Externí odkaz:
https://doaj.org/article/80cbee6e48c84bbba04e093af888ceb0
Publikováno v:
Biomedicines, Vol 12, Iss 3, p 634 (2024)
Background: The fact that during myocardial ischemia/reperfusion (I/R) injury, myosin light chain 1 (MLC1) and troponin I (TnI) are degraded by matrix metalloproteases activity has already been well established in both in vitro and ex vivo studies. H
Externí odkaz:
https://doaj.org/article/cd35882480434d8ba5e0989462b79baa
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited cerebral white matter disorder in children. Pathogenic variations in the causative gene MLC1 are found in approximately 76% of patients and are inherited in an autos
Externí odkaz:
https://doaj.org/article/715833ed0bf3412988db6178609edec5
Autor:
Clara Mayayo-Vallverdú, Laura Ferigle, Marta Vecino-Pérez, Julián Lara, Virginia Nunes, Raúl Estévez
Publikováno v:
Brain Disorders, Vol 11, Iss , Pp 100079- (2023)
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of vacuolating leukodystrophy. Approximately 75% of MLC patients have variants in MLC1, while the rest in GLIALCAM, GPRC5B and AQP4. From the GLIALCAM patients, a classic
Externí odkaz:
https://doaj.org/article/ee0bb518887d403fa2a6e96bbe1c4b8d
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Boletín Médico del Hospital Infantil de México, Vol 79, Iss 2 (2022)
Introducción: La leucoencefalopatía megalencefálica con quistes subcorticales es una leucodistrofia poco frecuente, asociada con mutaciones en los genes MLC1 y GlialCAM. La forma clásica se caracteriza por macrocefalia, neurodesarrollo temprano n
Externí odkaz:
https://doaj.org/article/24aacfb6ac874a34be800ac1a3800c11
Publikováno v:
BMC Psychiatry, Vol 20, Iss 1, Pp 1-6 (2020)
Abstract Background Megalencephalic leukoencephalopathy with subcortical cysts (MLC), or Van der Knaap disease, is a rare spongiform leukodystrophy that is characterized by macrocephaly, progressive motor dysfunction, and mild mental retardation. It
Externí odkaz:
https://doaj.org/article/e7f18b28754044f788a394df257d389c
Autor:
Muhammad Ilyas, Stephanie Efthymiou, Vincenzo Salpietro, Nuzhat Noureen, Faisal Zafar, Sobiah Rauf, Asif Mir, Henry Houlden
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-8 (2020)
Abstract Background Intellectual disability (ID) is both a clinically diverse and genetically heterogeneous group of disorder, with an onset of cognitive impairment before the age of 18 years. ID is characterized by significant limitations in intelle
Externí odkaz:
https://doaj.org/article/e12db3ed56af4fa8b96452f503099b00