Results 81 to 90 of about 10,122 (170)

Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature

Frontiers in Genetics
The leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by infantile-onset macrocephaly and chronic edema of the brain white matter.
Emma M. J. Passchier, Emma M. J. Passchier, Quinty Bisseling, Quinty Bisseling, Guy Helman, Rosalina M. L. van Spaendonk, Cas Simons, Cas Simons, René C. L. Olsthoorn, Hieke van der Veen, Hieke van der Veen, Truus E. M. Abbink, Marjo S. van der Knaap, Marjo S. van der Knaap, Rogier Min, Rogier Min   +15 more
doaj   +1 more source

Common data elements of cerebral palsy registries in Arabic‐speaking countries: A scoping review

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 332-342, March 2026.
This scoping review mapped existing cerebral palsy registries in Arabic‐speaking countries, highlighting their core data elements and alignment with international registry frameworks to guide future regional harmonization. This scoping review is commented on by Mushta on pages 303–304 of this issue.
Nihad Ali Almasri, Carl J. Dunst
wiley   +1 more source

Unraveling Lysosomal Exocytosis: From Molecular Mechanisms to Physiological Functions

Traffic, Volume 27, Issue 1, March 2026.
Lysosomal exocytosis is propelled by specific molecular mechanisms that direct its microtubule‐dependent transport and subsequent fusion with the plasma membrane. This process fulfills essential physiological functions such as plasma membrane repair, maintenance of cellular homeostasis, and participation in signal transduction.
Shanshan Jiang, Jingyi Fu, Shan Li, Zehui Li, Qirui Zhao, Yuqi Yin, Mei Yang, Yonghua Wang   +7 more
wiley   +1 more source

Astrocyte-specific deletion of LRRC8A causes neurological dysfunction but not chronic white matter edema

Neurobiology of Disease
Volume-regulated anion channels (VRACs) are central to cell volume homeostasis. They mediate swelling-induced efflux of chloride and organic osmolytes to drive regulatory volume decrease.
Sven Kerst, Leoni Hoogterp, Marjolein Breur, Gemma M. van Rooijen-van Leeuwen, Marianna Bugiani, Rajan Sah, Huibert D. Mansvelder, Marjo S. van der Knaap, Rogier Min   +8 more
doaj   +1 more source

The Leukodystrophies [PDF]

Proceedings of the Royal Society of Medicine, 1975
openaire   +2 more sources

Editorial: White matter dementia: neuropathological and neuropsychological underpinnings and state of the art diagnosis methods and treatments

Frontiers in Neurology, 2023
Christopher M. Filley, Iris-Katharina Penner, Lisa Schäfer, Wolfgang Köhler   +3 more
doaj   +1 more source

Juvenile Metachromatic Leukodystrophy in a Seven-Year-Old Child With a Familial History: A Case Report Suggesting Saposin B Deficiency. [PDF]

Cureus
Hassan AO, Arrab R, Benchchehab Y, Al Ammari I, Dini N.   +4 more
europepmc   +1 more source

Longitudinal MRI-based changes in intracranial volume and skull thickness observed in both metachromatic leukodystrophy and multiple sclerosis. [PDF]

Neuroimage Clin
Vorst GHJ, Wolf NI, van Nederpelt DR, Barkhof F, van der Knaap MS, Schoonheim MM, Strijbis EMM, Pouwels PJW.   +7 more
europepmc   +1 more source

<i>DEGS1</i>-Related Hypomyelinating Leukodystrophy: Four Individuals From Same Family and Review of Literature. [PDF]

Neurol Genet
Grinberg M, Dale B, Ramachandrannair R, Tarnopolsky M, Whitney R, Ejaz R.   +5 more
europepmc   +1 more source

Expanding the Genotype Spectrum- A Novel POLR3B Variant in 4H Leukodystrophy. [PDF]

Ann Indian Acad Neurol
Sachithanandan S, Krishnan S, Urulangodi M, Puthenveedu DK, Vijayaraghavan A.   +4 more
europepmc   +1 more source