Results 111 to 120 of about 9,985 (202)

Claudin-11-Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms. [PDF]

Clin Genet
Acquaviva F, Troisi S, Errichiello G, Russo C, Covelli EM, Siano MA, Manna MR, Tirozzi A, De Brasi D, Varone A.   +9 more
europepmc   +1 more source

Deletion of <i>wfs1</i> Impairs Oligodendrocyte Precursor Cells Dorsal Distribution and Myelination Through the <i>wfs1</i>-<i>hmgcs1</i> Axis in Zebrafish. [PDF]

Biology (Basel)
Tang X, Zhao Z, Yao K, Fan D, Li K, Zhou J, Wang Z, Hu B.   +7 more
europepmc   +1 more source

Genetic dissection of the role of <i>Piga</i> and <i>Pgap2</i> in the embryonic mouse brain. [PDF]

iScience
Watts JL, Leal JM, Stottmann RW.
europepmc   +1 more source

Longitudinal Evolution of Neuroimaging Findings in Fucosidosis: Expanding the Neuroradiologic Spectrum. [PDF]

Cureus
Nikam R, Eghbal A, Sanger T, Garavatti E.   +3 more
europepmc   +1 more source

Pontocerebellar hypoplasia type 9 with a novel combination of compound heterozygous variants in AMPD2. [PDF]

Hum Genome Var
Dohi S, Hotta J, Ito K, Yamashita T, Ono C, Sakuma S, Komatsu K, Inoue K, Saitsu H, Hamazaki T, Seto T.   +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

Trichothiodystrophy with Cerebral Hypomyelination

Annals of Dermatology, 2005
Young Gi Kim, June Woo Kim, Il Hun Bae, Ji Yeoun Lee, Tae Young Yoon   +4 more
openaire   +1 more source

A Novel Gain-of-Function GLUL Variant Is Associated With Developmental and Epileptic Encephalopathy With Enlarged Perivascular Spaces. [PDF]

Hum Mutat
Wu T, He F, Ni X, Yin F, Peng J.
europepmc   +1 more source

Aspartate-Glutamate Carrier 1 (<i>SLC25A12</i>) Deficiency: Malate-Aspartate Shuttle Failure, Neurodevelopmental Epileptic Encephalopathy, and Ketone-Based Metabolic Therapy. [PDF]

Int J Mol Sci
Murano M, Iaconisi GN, Monné M, Ahmed A, Fiermonte G, Capobianco L, Dolce V.   +6 more
europepmc   +1 more source

[A case of congenital hypomyelination polyneuropathy].

No to hattatsu = Brain and development, 1986
Asoh, Seijiro, Inoue, Kiyoharu, Misugi, Nobuko, Takemura, Tamiko   +3 more
openaire   +2 more sources