Results 151 to 160 of about 13,979 (223)

Expanding the Genotype Spectrum- A Novel POLR3B Variant in 4H Leukodystrophy. [PDF]

Ann Indian Acad Neurol
Sachithanandan S, Krishnan S, Urulangodi M, Puthenveedu DK, Vijayaraghavan A.   +4 more
europepmc   +1 more source

Chorea in Hereditary Leukodystrophies - Overview of Two Cases. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Milovanović A, Ječmenica-Lukić M, Mazalica N, Radišić V, Đorđević-Milošević M, Marjanović A, Branković M, Marković V, Kresojević N, Kostić V, Dragašević-Mišković N.   +10 more
europepmc   +1 more source

The impact of leukodystrophies on parents' lives. [PDF]

J Pediatr Psychol
Zampini L, Cordolcini L, Draghi L, Zanchi P, Vaia Y, Bonaventura E, Tonduti D.   +6 more
europepmc   +1 more source

Leukodystrophy [PDF]

, 2019
openaire   +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

Rare Genetic Diseases with Founder Effect in Roma Children. [PDF]

Life (Basel)
Drobňaková S, Andrejková M, Šaligová J, Potočňáková Ľ, Vargová V, Kuchta M, Beňačka R, Barkai L.   +7 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

Cognitive and intellectual functioning in leukodystrophy patients: a systematic review. [PDF]

Orphanet J Rare Dis
Grol WHM, van der Knaap MS, Wolf NI, Geurtsen GJ.   +3 more
europepmc   +1 more source

Van der Knaap Disease Unveiled: A Radiological-Genomic Journey From Seizure to Diagnosis. [PDF]

Cureus
Jaiswal M, Yadav A, Goyal BR, Mathur A, Chand G.   +4 more
europepmc   +1 more source