Results 111 to 120 of about 5,681 (206)

Living with adrenoleukodystrophy: adult patient and caregiver perspectives

Orphanet Journal of Rare Diseases
Introduction Adrenoleukodystrophy (ALD) is a rare, X-linked disease caused by pathogenic ABCD1 gene variants, resulting in heterogeneous and debilitating conditions.
Amena Smith Fine, Kathleen O’ Sullivan-Fortin, Kelly Miettunen, Felicity Emerson, Reza Sadjadi, Ali Fatemi, Florian Eichler   +6 more
doaj   +1 more source

Leukodystrophies : genetic and molecular aspects in Morocco

, 2018
Les leucodystrophies (LD) sont des troubles héréditaires affectant la substance blanche (SB) du système nerveux central (SNC) avec ou sans atteinte du système nerveux périphérique (SNP). Ces troubles ont en commun des anomalies de la cellule gliale ou de
Karkar, Adnane
core  

Advances in Research on <i>AARS1</i>/<i>AARS2</i>-Related Disorders: A Focus on Leukodystrophies. [PDF]

Genes (Basel)
Yang Z, Zhang W, Yu F, Duan X, Zhou M, Tang B.   +5 more
europepmc   +1 more source

Diffuse high-grade glioma with gliomatosis cerebri pattern mimicking symmetric white matter disease. [PDF]

Radiol Case Rep
Abouchiba S, Ennasery Z, Ouazzani H, Chaouche I, Akammar A, El Bouardi N, Haloua M, Alami B, Lamrani MYA, Boubbou M, Maaroufi M.   +10 more
europepmc   +1 more source

Magnetic resonance imaging in leukodystrophies: characteristic patterns and diagnostic relevance. [PDF]

Arq Neuropsiquiatr
Ruffini ML, Pereira DA, Helmer RS, Souza AM, Lima BS, Baccarin G, Yamada GK, Borella LFM, Turci RD, Duarte JÁ, Reis F.   +10 more
europepmc   +1 more source

Stem Cell-Based Therapies for Central Nervous System Demyelinating Diseases: Clinical Evidence, Therapeutic Niches, and Translational Boundaries. [PDF]

Med Sci Monit
Luo Q, Jin D, Zhan Z.
europepmc   +1 more source

Blood Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Candidate Biomarkers in <i>CSF1R</i>-Related Disorder. [PDF]

Neurol Genet
Ayrignac X, Marelli C, Lehmann S, Huiban C, Yska HAF, Labauge P, Le Ber I, Mochel F.   +7 more
europepmc   +1 more source

Neurodegenerative Diseases in Children: A Comprehensive Review. [PDF]

Int J Mol Sci
Ailioaie C, Ailioaie LM, Stan CI, Sava A, Chiran DA.   +4 more
europepmc   +1 more source

Design of a Pediatric Low Motor Function Item Battery in leukodystrophies. [PDF]

Mol Genet Metab
Gavazzi F, Woidill S, Sevagamoorthy A, Jawad AF, D'Aiello R, Bradford J, Lerner M, Hong P, White A, Tashnim Z, Cusack SV, Glanzman AM, Harrington A, Waldman AT, Vanderver A, Adang LA.   +15 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