Results 61 to 70 of about 10,122 (170)

Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre

International Journal of Developmental Neuroscience, Volume 86, Issue 2, April 2026.
Children with congenital Zika syndrome followed at a neurorehabilitation centre demonstrated severe neurological impairment characterized by microcephaly, cortical malformations, intracranial calcifications and multifocal epileptiform activity. Integrated clinical, neuroimaging and video‐electroencephalographic (EEG) findings highlight the extensive ...
Adilina Soares Romeiro Rodrigues, Pedro Ykaro Fialho Silva, Ramiro Pinheiro Rodrigues, Kylvia Giselle Fernandes Dantas Pinho, Sthefani da Costa Penha, Álvaro Jorge Madeiro Leite   +5 more
wiley   +1 more source

Loss of Ramified Microglia Precedes Axonal Spheroid Formation in Adult-Onset Leukoencephalopathy with Axonal Spheroids.

Free Neuropathology, 2020
Two different pathological mechanisms have been suggested to underlie adult-onset leukoencephalopathy with axonal spheroids (ALAS). Pathological studies have suggested that ALAS involves primary axonopathy with secondary demyelination.
Murad Alturkustani, Qi Zhang, Basma AlYamany, Lee-Cyn Ang   +3 more
doaj   +1 more source

Infantile Alexander Disease: Case Report and Review of Literature [PDF]

Journal of Clinical and Diagnostic Research, 2017
Alexander Disease (AD) is an autosomal dominant leukodystrophy and occurs predominantly in infants and children. It usually results in death within ten years after onset. Among the four subtypes, infantile form comprises the most of affected individuals.
Soumyabrata Sarkar, Rupam Sinha, Amitabha Chakraborty, Tanya Khaitan, Biyas Bhowmik   +4 more
doaj   +1 more source

The Homeobox Genes: Classification, Regulation, Biological Functions, and Diseases

MedComm, Volume 7, Issue 4, April 2026.
Overview of the homeobox gene superfamily and its pathophysiological roles. The homeobox superfamily comprises several major classes, including ANTP, PRD, TALE, LIM, POU, and others. Among these, the HOX clusters (A–D) play critical roles in embryonic development specifically in conferring cellular identity, regulating morphogenesis, and guiding axial ...
Maedeh Dadzadi, Shahin Ramazi, Mona Darvazi, Sepideh Yoosefi, Melika Abbasi, Shirin Farsad   +5 more
wiley   +1 more source

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

Clinical Genetics, Volume 109, Issue 4, Page 784-787, April 2026.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou, Helen Turner, Deborah Shears, Fredrik Karpe   +3 more
wiley   +1 more source

From mechanism to phenotype: What fits in a basket trial

Epilepsia, EarlyView.
Kette D. Valente
wiley   +1 more source

Redefining closeness: Family resilience after sibling loss among individuals who had siblings with disabilities

Family Relations, Volume 75, Issue 2, Page 1201-1219, April 2026.
ABSTRACT Objective This qualitative study examined the experiences of individuals who had lost a sibling with a disability through a family resilience framework. Background Sibling relationships in families of individuals with disabilities are complex, with siblings often assuming caregiving roles and experiencing emotional strain.
Minhae Cho, Ji Sun Lee, Susan Neely‐Barnes, Melissa Hirschi, Keena Gilbert, J. Holden Brimhall, Tracy Humphrey   +6 more
wiley   +1 more source

Accumulation of lysosulfatide in the brain of arylsulfatase A-deficient mice

Lipids in Health and Disease, 2011
Lysosomal storage diseases are a group of disorders where accumulation of catabolites is manifested in the lysosomes of different cell types. In metachromatic leukodystrophy (Arylsulfatase A [EC.3.1.6.8] deficiency) storage of the glycosphingolipid ...
Månsson Jan-Eric, Gieselmann Volkmar, Blomqvist Maria   +2 more
doaj   +1 more source

Endogenous Repair in Vanishing White Matter

Annals of Neurology, Volume 99, Issue 3, Page 737-747, March 2026.
[Color figure can be viewed at www.annalsofneurology.org] Objective Vanishing white matter is a leukodystrophy with remarkable regional variation in disease severity. The cerebral and cerebellar white matter chronically degenerates, while stress‐induced episodes of rapid neurological deterioration coincide with the appearance of acute focal lesions in ...
Bonnie C. Plug, Jodie H.K. Man, Marjolein Breur, Erik Nutma, Menno D. Stellingwerff, Truus E.M. Abbink, Marianna Bugiani, Marjo S. van der Knaap   +7 more
wiley   +1 more source

Non‐Syndromic Tumefactive Demyelinating Lesions in the Pediatric Population: Four Case Reports and Review of the Literature

Annals of the Child Neurology Society, Volume 4, Issue 1, Page 87-94, March 2026.
ABSTRACT Introduction Tumefactive demyelinating lesions (TDLs) are large lesions (> 2 cm) seen in demyelinating syndromes such as multiple sclerosis, myelin oligodendrocyte glycoprotein antibody‐associated disorder, and neuromyelitis optica spectrum disorder. They rarely occur in children and most often have a monophasic course.
Elizabeth C. Ballinger, Hannah F. Todd, Jonathan M. Yarimi, Timothy E. Lotze, Nikita M. Shukla, Kristen S. Fisher, Alexander J. Sandweiss   +6 more
wiley   +1 more source