Results 121 to 130 of about 9,985 (202)

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

A model of free sialic acid storage disorder reveals hypomyelinating leukodystrophy and Purkinje cell degeneration. [PDF]

Dis Model Mech
Hackbarth ME, Hossain MS, Sabir MS, Leoyklang P, Dorward H, Burke JD, Elliot G, Garrett L, Zerfas P, Springer DA, Pollard L, Wincovitch S, Huizing M, Gahl WA, Malicdan MCV.   +14 more
europepmc   +1 more source

<i>POLR3A</i>-related syndrome complicated with cerebral abscesses: a case report and literature review. [PDF]

Front Genet
Zhou M, Hou L, Fan H, Duan Y, Xie X, Wu H, Wang H, Zhang W, Du K.   +8 more
europepmc   +1 more source

Adult-Onset Familial TUBB4A-Related Leukodystrophy Caused by c.286G>A (p.Gly96Arg) in a Korean Family: A Case Report. [PDF]

J Mov Disord
Lee JS, You S.
europepmc   +1 more source

Case Report of Dual Variants in <i>SLC1A4</i> and <i>APOE</i>: A Possible Link Between Amino Acid and Lipid Metabolism. [PDF]

Clin Case Rep
Qaisiya M, Altell K, Alhroub W, Ramlawe M, Battocchio E, Guarnieri F, Altamimi M.   +6 more
europepmc   +1 more source

Autosomal recessive <i>ELOVL1</i>-related disorder presenting with severe neonatal cholestasis: A novel clinical feature? [PDF]

Mol Genet Metab Rep
Tsai AC, Lee HT, Sanchez B, Huang YR, Krysinski S, Zalan A, Falsey E.   +6 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

A Case Report and a Review of TRAPPC4-Related TRAPPopathy. [PDF]

Int J Dev Neurosci
Kumar A, Kumar A, Wander A, Munshi A.
europepmc   +1 more source

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review. [PDF]

Muscle Nerve
Sell LB, Garcia D, Hollá A, Chilton I, DeVries S, Gómez-Moreno AM, Lubián-Gutiérrez M, Shi Q, Bhat MA.   +8 more
europepmc   +1 more source

Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE): genetics, mechanisms and precision therapy. [PDF]

Acta Neuropathol
Spyrou J, Lockhart PJ, Maljevic S, Howell KB, Reid CA.   +4 more
europepmc   +1 more source