Results 101 to 110 of about 10,122 (170)

A case report of multiple system atrophy-mimics: Importance of comprehensive evaluation in suspected familial cases. [PDF]

Medicine (Baltimore)
Jeong C, Farrer M, Khurana V, Kim HJ.
europepmc   +1 more source

Correction to "Self-Assembly of Accumulated Sphingolipids into Cytotoxic Fibrils in Globoid Cell Leukodystrophy and Their Inhibition by Small Molecules in Vitro". [PDF]

ACS Nano
Kumar S, Nikelshparg E, Pilátová J, Paul A, Kumar V, Koren G, Laor Bar-Yosef D, Beck R, Jensen HH, Segal D.   +9 more
europepmc   +1 more source

Developing a National Network for Leukodystrophy Research and Care in Canada: The CARELeuko Initiative. [PDF]

Neurol Genet
Chapleau A, Le A, Simo J, Venkateswaran S, Lacaze-Masmonteil T, Piscopo VEC, Gauthier S, Villa Tobón F, Alam SS, Lentini L, Brais B, Ernst C, Mitchell JJ, Vinh DC, Zhou Y, Kennedy TE, Goloff N, Riham B, Chapleau R, Smith B, Greger V, Della Rocca J, Louis LM, Dike A, McIntyre LL, McIntyre DF, Tardif J, Lapointe É, Barnett J, Loignon V, Bardai G, Contant S, Durcan TM, La Piana R, Bernard G, as RareKids-CAN, RARE.Qc, CARELeuko.   +37 more
europepmc   +1 more source

SHQ1-related hypomyelinating leukodystrophy: A case report with imaging features and a homozygous variant. [PDF]

Radiol Case Rep
AlBathi A, AlMutairi A, AlDraihem A.
europepmc   +1 more source

Systematic Review of Patient Focused Drug Development Meeting Reports for Conditions Affecting Neurodevelopment. [PDF]

Ther Innov Regul Sci
Farmer C, Kim V, Das T, Cutler S, Wallis H, Thurm A.   +5 more
europepmc   +1 more source

POLR3B-Related Hypomyelinating Leukodystrophy Type 8 (4H Syndrome): A Case Series of Two Siblings. [PDF]

Cureus
Mani Jacob D, Nagarajan DR, Kakade SJ.
europepmc   +1 more source

Adult-onset vanishing white matter disease caused by the EIF2B5 c.185A>T (p.Asp62Val) variant. [PDF]

Front Genet
Zhou J, Ji C, Ma S, Zhu J, Yang P.
europepmc   +1 more source

Hypomyelination With Congenital Cataract: A Rare Genetic Leukodystrophy. [PDF]

Cureus
Bhimanadham VM, Panicker GJ.
europepmc   +1 more source

One year follow up in siblings with TREX1-associated retinal vasculopathy with cerebral leukodystrophy. [PDF]

Am J Ophthalmol Case Rep
Mylonas G, Dimakopoulou I, Iby J, Deak G, Hollaus M, Buehl W, Lehner R, Ritter M, Weigert G, Schmidt-Erfurth U, Sacu S.   +10 more
europepmc   +1 more source

Leukodystrophy [PDF]

, 2019
openaire   +1 more source