Results 131 to 140 of about 5,681 (206)

Neuroradiological patterns and prognostic implications in type I Alexander disease. [PDF]

Mol Genet Metab
Vaia Y, Arrigoni F, Sira LB, Bernard G, Bertini E, Boespflug-Tanguy O, Bruschi F, Cereda C, Eichler F, Erbetta A, Ferraro S, Heidari M, Lalli L, Lambert G, Libzon S, Longo D, Moroni I, Nagy A, Nicita F, Renaldo F, Rodriguez D, Khan GS, Tavasoli AR, Winter E, Zerem A, Parazzini C, Tonduti D.   +26 more
europepmc   +1 more source

Leukodystrophy [PDF]

, 2020
openaire   +1 more source

Risk of Seizures and Epilepsy in the Leukodystrophies. [PDF]

Pediatr Neurol
Hackett AN, Yan H, Liu K, Corre C, Gao K, Grzyb C, Goodman J, Kelly D, Ingemansson CR, Ghabash G, DiBenardo K, Raymond GV, Benko W, Thompson-Stone R, Fatemi A, Eichler FS, Keller S, Bonkowsky JL, Escolar M, Mallack EJ.   +19 more
europepmc   +1 more source

Whole-exome sequencing reveals novel and previously reported variants in genes linked to white matter pathology in neurodevelopmental disorders. [PDF]

Eur J Hum Genet
Ahmad N, Aleem T, Liu C, Rashid M, Tehreem J, Junaid MAM, Asif MF, Ullah S, Ullah S, Afridi TUK, Baig UR, Tariq M, Khan TN, Green L, Poulter JA, Malik NA.   +15 more
europepmc   +1 more source

A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms. [PDF]

NPJ Genom Med
Chapleau A, Perrier S, Durcan TM, Bernard G.   +3 more
europepmc   +1 more source

Stem cell and gene therapies for leukodystrophies. [PDF]

Mol Ther Methods Clin Dev
Lin W, Zhang M, Zheng S, Lian Q.
europepmc   +1 more source

Pelizaeus-Merzbacher disease in children: A case report. [PDF]

Radiol Case Rep
Van Thuong N, The VT, Lam VD, Thinh ND, Cuong BX, Yen PTH, Loc TQ, Dung LT.   +7 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

Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1. [PDF]

Int J Dev Neurosci
Vaia Y, Mura E, Bruschi F, Zambrano S, Brena M, Tadini G, Arrigoni F, Antonello CE, Uggetti C, Parazzini C, Veggiotti P, Tonduti D.   +11 more
europepmc   +1 more source

Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and Research. [PDF]

Neurology
Yska HAF, Golse M, Galanaud D, Amartino HM, Bergner C, Bruschi F, Eichler FS, Fatemi A, García-Cazorla À, Gomez-Chiari M, Köhler W, Loes D, Lund T, Mallack EJ, Moscatelli M, Musolino PL, Nascene DR, Orthmann-Murphy JL, Parazzini C, Pouwels PJW, Ribeiro-Constante J, Roosendaal SD, Salsano E, Sgobbi PV, Sevin C, Smith Fine A, Tonduti D, Van Haren K, Zerem A, Engelen M, Mochel F.   +30 more
europepmc   +1 more source