Results 171 to 180 of about 24,692 (277)

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

Compound heterozygosity of a novel missense variant and exonic deletion in hypomyelinating leukodystrophy 15. [PDF]

Neurogenetics
Mitsutake A, Matsukawa T, Orimo K, Ueda K, Seki T, Shiio Y, Mitsui J, Ishiura H, Mori H, Tsuji S, Toda T.   +10 more
europepmc   +1 more source

Psychological Framing of Illness: Early Family Trauma and Diagnostic Delay in Adult-Onset Metachromatic Leukodystrophy. [PDF]

Case Rep Psychiatry
Metelmann M, Köhler W, Schomerus G, Speerforck S.   +3 more
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

Leukodystrophies

, 2008
Frank Gaillard, Rohit Sharma, Tariq Walizai   +2 more
openaire   +2 more sources

Expert Recommendations for Rapid Response to Positive Newborn Screen for Infantile Krabbe Disease. [PDF]

Neurol Genet
Thompson Stone R, White AL, Rubin JP, Rajan DS, Matern D, Kurtzberg J, Orsini JJ, Shenoy S, Mallack EJ, Ream MA.   +9 more
europepmc   +1 more source

Recessive Mutations in Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts [PDF]

core   +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

Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family. [PDF]

, 2012
Bhatia, KP, Bras, J, Gibbons, V, Hardy, J, Houlden, H, Kojovic, M, Palmer, R, Rubio-Agusti, I, Saha, A, Sheerin, UM, Wood, NW   +10 more
core   +1 more source