Results 71 to 80 of about 24,301 (201)

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

Clinical Genetics, Volume 110, Issue 3, Page 363-368, September 2026.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source

Targeting progressive multiple sclerosis: Toward mechanism‐informed precision medicine

Journal of Internal Medicine, Volume 300, Issue 3, Page 238-257, September 2026.
Abstract Multiple sclerosis has undergone a therapeutic revolution over the past three decades. Randomized clinical trials and real‐world data demonstrate that modern disease‐modifying therapies substantially reduce relapse rates and acute inflammatory activity detected by magnetic resonance imaging (MRI).
Fredrik Piehl, Gonçalo Castelo‐Branco, Maja Jagodic, Tomas Olsson   +3 more
wiley   +1 more source

Magnetic resonance imaging of changes in the brain of children cured of acute lymphoblastic leukemia

Hematology Reports, 2019
This study was aimed to systematize magnetic resonance imaging (MRI) presentation of toxic leukoencephalopathy, to find the correlation between method of central nervous system (CNS) leukemia prevention and changes on MRI, to find relationship between ...
Vladislav P. Bondarenko, Galina V. Tereschenko, Mikhail M. Andrianov, Yulia V. Rumyantseva, Alexander I. Karachunsky, Vladimir N. Kasatkin, Alexander F. Karelin, Viktor N. Anisimov, Elena V. Zhukovskaya, Alexander G. Rumyantsev   +9 more
doaj   +1 more source

Genetic Leukoencephalopathies in Adults [PDF]

Continuum, 2016
More than 100 heritable disorders can present with abnormal white matter on neuroimaging. While acquired disorders remain a more common cause of leukoencephalopathy in the adult than genetic causes, the clinician must remain aware of features that suggest a possible genetic etiology.The differential diagnosis of heritable white matter disorders in ...
openaire   +2 more sources

Expanding the Phenotype of TUFM ‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1884-1889, August 2026.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Possible Occurrence of Delayed Leukoencephalopathy Following Acute Ischemic Stroke With Large‐Vessel Occlusion

Stroke: Vascular and Interventional Neurology
Background Typically detected at least 14 days after acute ischemic stroke onset, delayed leukoencephalopathy (DL) involves diffuse hyperintensities restricted to white matter on fluid‐attenuated inversion recovery accompanied mostly by partial diffusion‐
Takeo Sato, Satoshi Matsushima, Motohiro Okumura, Takahiro Maku, Tomomichi Kitagawa, Maki Tanabe, Hiroki Takatsu, Teppei Komatsu, Kenichiro Sakai, Kenichi Sakuta, Tadashi Umehara, Hidetomo Murakami, Hidetaka Mitsumura, Masato Matsushima, Yasuyuki Iguchi   +14 more
doaj   +1 more source

A collaborative framework for uncovering molecular and cellular drivers of VCID: Foundations for future interventions in dementia

Alzheimer's &Dementia, Volume 22, Issue 8, August 2026.
Abstract Vascular‐related factors are now considered major contributors to most forms of dementia, including Alzheimer's disease. However, the degree to which vascular deficits contribute to risk, onset, and progression of cognitive impairment and dementia has only recently been appreciated.
M. Luisa Iruela‐Arispe, Jason D. Hinman, Andrew C. Yang, Fabrice Dabertrand, Jin‐Moo Lee, Gareth R. Howell, The VCID Centers without Walls Network   +6 more
wiley   +1 more source

Progressive multifocal leukoencephalopathy: new concepts

Arquivos de Neuro-Psiquiatria, 2013
Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease of the CNS caused by reactivation of JC virus (JCV) in a setting of cellular immunosuppression.
Marco A. Lima
doaj   +1 more source

Fast sleep spindles as a potential prognostic marker of developmental outcome in infantile epileptic spasms syndrome

Epilepsia Open, Volume 11, Issue 4, Page 1227-1236, August 2026.
Abstract Objective The presence or absence of sleep spindles in patients with infantile epileptic spasms syndrome (IESS) has been proposed as a potential predictor of cognitive outcome; however, the validity of this predictor remains uncertain.
Kento Ohta, Thomas Reuben, Tohru Okanishi, Go Yoshino, Tatsuo Hosoda, Kentaro Okada, Yoshihiro Maegaki   +6 more
wiley   +1 more source

First‐line treatment with epcoritamab in combination with bendamustine plus rituximab induces sustained remissions beyond 3 years in patients with follicular lymphoma

HemaSphere, Volume 10, Issue 8, August 2026.
Abstract First‐line (1L) bendamustine plus rituximab (BR) leads to high response rates in follicular lymphoma (FL), but maintaining durable remissions remains challenging. We report the 3‐year follow‐up from arm 3 of the phase 1b/2 EPCORE NHL‐2 trial (NCT04663347) of epcoritamab, a subcutaneously administered CD3×CD20 bispecific antibody, combined with
Umberto Vitolo, Lorenzo Falchi, Per‐Ola Andersson, Marcel Nijland, Fritz Offner, Sylvia Snauwaert, Jacob H. Christensen, Michael R. Clausen, Alexander Fosså, Pilar G. Prieto, Eliza A. Hawkes, Judit M. Jørgensen, Yasmin H. Karimi, Catharina Lewerin, Joost S. P. Vermaat, Björn E. Wahlin, Poliana Patah, Christopher Morehouse, Malene Risum, Zhu Li, Jennifer Marek, Joshua D. Brody   +21 more
wiley   +1 more source