Results 121 to 130 of about 13,979 (223)

Neuropathologic Features of Adult-Onset Progressive Leukodystrophy Due to <i>KARS</i> Pathogenic Variants: A Case Report. [PDF]

Neurol Genet
Nagy A, Marshall MS, Frosch MP, Li Y, Walker MA, Eichler FS.   +5 more
europepmc   +1 more source

Fulminant early-onset subacute sclerosing panencephalitis masquerading as leukodystrophy: a diagnostic challenge. [PDF]

Clin Exp Pediatr
Ragunathan K, Boruah DK, Veeraraghavan V, Kaushik JS.   +3 more
europepmc   +1 more source

Intracranial calcifications in DEGS1-Related Leukodystrophy: a potentially under-recognised neuroimaging feature. [PDF]

Neurol Sci
Vaia Y, Kim N, Jeyasingh S, Sudhakar S, Mankad K, Biswas A, Siddiqui A, Mundy H, Hedderly T, Singh RR.   +9 more
europepmc   +1 more source

Characteristic MRI pattern in <i>LMNB1</i>-related autosomal dominant leukodystrophy: a case report. [PDF]

Front Neurosci
Wang YX, Du T, Yang CL, Zhang M, Duan RS.   +4 more
europepmc   +1 more source

Leukodystrophy in children: a pictorial review of MR imaging features

, 2002
Dysmyelinating diseases, or leukodystrophies, encompass a wide spectrum of inherited neurodegenerative disorders affecting the integrity of myelin in the brain and peripheral nerves.
Kim, Ki Joong, Kim, In-One, Hwang, Yong Seung, Wang, Kyu-Chang, Yeon, Kyung Mo, Kim, Woo Sun, Kim, Chong Jai, Chi, Je Geun, Cheon, Jung-Eun, Cho, Byung-Kyu   +9 more
core  

Claudin-11-Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms. [PDF]

Clin Genet
Acquaviva F, Troisi S, Errichiello G, Russo C, Covelli EM, Siano MA, Manna MR, Tirozzi A, De Brasi D, Varone A.   +9 more
europepmc   +1 more source

Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD). [PDF]

Mol Genet Metab
Sevagamoorthy A, Woidill S, Sudilovsky G, Kelley K, Vaia Y, Gavazzi F, Schmidt JL, Pizzino A, D'Aiello R, Uebergang E, Bruschi F, Mirchi A, Abe-Hatano C, Sartorelli J, Nicita F, Cunningham C, Tonduti D, Bertini E, Bernard G, Inoue K, Wolf NI, Adang LA, Shults J, Vanderver A.   +23 more
europepmc   +1 more source

Novel <i>TMEM63A</i> mutation associated with transient hypomyelination of infancy - lessons from a previously negative whole-exome sequencing case: Three case reports. [PDF]

World J Clin Pediatr
Chanvanichtrakool M, Kulsirichawaroj P, Jaito W, Pho-Iam T, Kamolvisit W, Likasitwattanakul S.   +5 more
europepmc   +1 more source

New variant in PLP1 gene associated with X-linked spastic paraplegia type 2: First report of a family in Colombia [PDF]

Biomedica
Laverde-Sudupe N, Giraldo-Serna ÁL, Ramírez-Montaño D, Ramírez-Cheyne J, Saldarriaga-Gil W.   +4 more
europepmc   +1 more source

Rigorous genetic diagnosis review in natural history studies. [PDF]

Orphanet J Rare Dis
Pizzino A, Arnold K, Wiener E, Muirhead K, Schmidt J, Dominguez-Gonzalez CA, Banglorewala P, Fraser JL, Ruzhnikov M, Cohen JS, Sherbini O, Logan R, Gavazzi F, Sevagamoorthy A, Vincent A, D'Aiello R, Vanderver A.   +16 more
europepmc   +1 more source