Results 131 to 140 of about 1,799 (195)

Leukoencephalopathy, brain calcifications, and cysts (LCC): Two unique cases. [PDF]

Rare
Grafstein J, Aoyama Y, Godfrey R, Howe C, Stephen J, Malicdan MC, Gahl WA, Toro C.   +7 more
europepmc   +1 more source

Digital Twin models to address long-term treatment toxicities in children and young adults with cancer. [PDF]

NPJ Digit Med
Elsayed I, Krstic A, Iglesias-Martínez LF, Ralston JC, Kolch W.   +4 more
europepmc   +1 more source

Acute leukoencephalopathy with restricted diffusion (ALERD) in a toddler: A diagnostic challenge unmasking hereditary sensory autonomic neuropathy type 4. [PDF]

BMJ Case Rep
Gowda VK, Varghese A, Kinhal UV, Srinivasan VM, Nayyer A.   +4 more
europepmc   +1 more source

Study of the NOTCH3 Gene Reveals the First CADASIL Cases in Crete and a Novel Pathogenic Variant. [PDF]

Brain Behav
Zaganas I, Tsiverdis I, Kokosali E, Litso I, Drakos M, Skoula I, Zabetakis A, Mathioudakis L, Mastorodemos V, Mitsias P.   +9 more
europepmc   +1 more source

Adult-onset cerebral X-linked adrenoleukodystrophy presenting with frontal lobe syndrome caused by a de novo <i>ABCD1</i> gene mutation (c.1415_1416delAG, p.Gln472fs*83). [PDF]

Neurol Perspect
Ghosh R, León-Ruiz M, Jana A, Dubey S, Benito-León J.   +4 more
europepmc   +1 more source

Acute Encephalopathy with Biphasic Seizures and Restricted Diffusion vs. Acute Leucoencephalopathy with Restricted Diffusion - What is in a Name? [PDF]

Ann Indian Acad Neurol
Kamate M, Basangouda T, Hattiholi V.
europepmc   +1 more source

Adrenoleukodystrophy-Like Presentation of MOG-Antibody-Associated Demyelination. [PDF]

Ann Indian Acad Neurol
Viswanathan LG, Nagappa M, Seshagiri DV, Bharath RD, Sinha S.   +4 more
europepmc   +1 more source

Corpus Callosum Size on Magnetic Resonance Imaging and Its Association With Developmental Delays in Children: A Retrospective Case-Control Study. [PDF]

Cureus
Mahajan M, Gupta V, Nathyal S, Banerjee S.   +3 more
europepmc   +1 more source

A novel disease-causing variant associated with a milder phenotype of AARS2-related leukodystrophy - A case report. [PDF]

Mol Genet Metab Rep
Fernandes J, Moura J, Tarrio J, Oliveira J, Lopes A, Freixo JP, Videira G.   +6 more
europepmc   +1 more source

Identification of a novel <i>CLCN2</i> homozygous variant in a man with leukoencephalopathy and infertility: a case report and literature review. [PDF]

Front Genet
Yu L, Jiang W, Cao L, Geng Z, Chen J.
europepmc   +1 more source