Results 121 to 130 of about 43,456 (236)

Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease

HGG Advances, 2021
Summary: Leukodystrophies, genetic neurodevelopmental and/or neurodegenerative disorders of cerebral white matter, result from impaired myelin homeostasis and metabolism. Numerous genes have been implicated in these heterogeneous disorders; however, many
Alexa Derksen, Hung-Yu Shih, Diane Forget, Lama Darbelli, Luan T. Tran, Christian Poitras, Kether Guerrero, Sundaresan Tharun, Fowzan S. Alkuraya, Wesam I. Kurdi, Cam-Tu Emilie Nguyen, Anne-Marie Laberge, Yue Si, Marie-Soleil Gauthier, Joshua L. Bonkowsky, Benoit Coulombe, Geneviève Bernard   +16 more
doaj  

Dual Qualitative-Quantitative Nested PCR for Detection of JC Virus in Cerebrospinal Fluid: High Potential for Evaluation and Monitoring of Progressive Multifocal Leukoencephalopathy in AIDS Patients Receiving Highly Active Antiretroviral Therapy [PDF]

, 1999
Darı́o Garcı́a de Viedma, Roberto Alonso, Pilar Miralles, Juan Berenguer, Marta Rodríguez‐Créixems, Emilio Bouza   +5 more
openalex   +1 more source

CSF1R ⁃ related leukoencephalopathy: from hereditary diffuse leukoencephalopathy with spheroids to primary microgliopathy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2020
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare autosomal dominant hereditary leukoencephalopathy. Progressive neuropsychiatric symptoms and motor disorders are the main clinical manifestations, and women appear earlier than men ...
Yan⁃qiu WEI, Jun XU, Ruo⁃xi LIU, Lin LI, Zhen DONG   +4 more
doaj  

YME1L1 Dysfunction Associated With 3‐Methylglutaconic Aciduria

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
YME1L1 dysfunction is a new type of secondary 3‐methylglutaconic aciduria, observed in two siblings with a novel homozygous YME1L1 variant. ABSTRACT 3‐methylglutaconic aciduria (3‐MGCA) is a biochemical finding in a diverse group of inherited metabolic disorders.
Anthi Demetriadou, Olga Grafakou, Theodoros Georgiou, Daniela Burska, Anna Malekkou, Jana Krizova, Efstathia Paramera, Gavriella Mavrikiou, Maria Dionysiou, Athina Theodosiou, Carolina Sismani, Violetta Anastasiadou, Ioannis Ioannou, Evangelos Papakonstantinou, Hana Hansikova, Anthi Drousiotou, Petros P. Petrou   +16 more
wiley   +1 more source

Cytarabine Therapy for Progressive Multifocal Leukoencephalopathy in Patients with AIDS [PDF]

, 1996
Santiago Moreno, Pilar Miralles, María Dolores Pérez Díaz, Juan Berenguer, J. C. L. Bernaldo de Quirós, R. Blázquez, Jaime Cosín, Emilio Bouza   +7 more
openalex   +1 more source

Alopecia Areata: Pathogenesis, Diagnosis, and Therapies

MedComm, Volume 6, Issue 5, May 2025.
This review probed into the immune factors in the pathogenesis of AA, focusing on the small molecule drugs and biologics for the treatment of AA, and anticipated the research direction in terms of the pathogenesis and targeted therapy of AA. It aims to emphasize the necessity for further exploration of its immunological pathogenesis and therapeutic ...
Tianyou Ma, Tingrui Zhang, Fengze Miao, Jun Liu, Quangang Zhu, Zhongjian Chen, Zongguang Tai, Zhigao He   +7 more
wiley   +1 more source

Progressive Multifocal Leukoencephalopathy in a Patient with Common Variable Immunodeficiency [PDF]

, 1998
Pier Giorgio Scotton, A. Vaglia, A. Carniato, G. C. Marchiori   +3 more
openalex   +1 more source

Progressive cavitating leukoencephalopathy associated with a homozygous POLG mutation of 264C>G (p.F88L)

Radiology Case Reports, 2020
Progressive cavitating leukoencephalopathy is a childhood neurodegenerative syndrome characterized by brain MR imaging findings of patchy leukoencephalopathy with cavities and vascular permeability, initially affecting the corpus callosum and centrum ...
Austin Shinagawa, BS, Stephen Hugdal, MD, Jay Babu, Rajesh Rangaswamy, MD   +3 more
doaj  

Safety and effectiveness of fingolimod in Japanese patients with multiple sclerosis: Results of a post‐marketing surveillance study

Clinical and Experimental Neuroimmunology, Volume 16, Issue 2, Page 118-131, May 2025.
Abstract Objective Fingolimod is the first oral sphingosine‐1‐phosphate receptor modulator approved in Japan for multiple sclerosis (MS). A large Japanese observational study of fingolimod in patients with MS was carried out to support its safety and effectiveness in a real‐world setting.
Noriko Sato, Koji Wakimoto, Kyoko Kato, Yutaka Susuta, Kengo Ueda, Yoshihisa Satou, Takayoshi Sasajima, Jun‐ichi Kira   +7 more
wiley   +1 more source

Safety monitoring of the newer disease modifying therapies in multiple sclerosis patients in Mater Dei hospital [PDF]

, 2016
Patients with highly active Multiple Sclerosis can be started on the newer pharmaceutical agents, Dimethyl Fumarate or Fingolimod. Safety monitoring recommended includes regular blood analysis and also ophthalmic tests and MRI scans in the case of ...
Aquilina, Josanne, Zammit, Daniela
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