Results 101 to 110 of about 1,085 (157)

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

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

Diffuse high-grade glioma with gliomatosis cerebri pattern mimicking symmetric white matter disease. [PDF]

Radiol Case Rep
Abouchiba S, Ennasery Z, Ouazzani H, Chaouche I, Akammar A, El Bouardi N, Haloua M, Alami B, Lamrani MYA, Boubbou M, Maaroufi M.   +10 more
europepmc   +1 more source

Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities. [PDF]

Dev Med Child Neurol
Oikarainen JH, Knuutinen OA, Kangas SM, Rahikkala EJ, Pokka TM, Moilanen JS, Hinttala RM, Vieira PM, Uusimaa JM, Suo-Palosaari MH.   +9 more
europepmc   +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

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

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 Leukodystrophy due to <i>TMEM63A</i> Variant Presenting with Rapidly Progressive Dementia with Parkinsonism. [PDF]

Ann Indian Acad Neurol
Garg D, Agarwal A, Garg A, Srivastava AK.   +3 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