Results 141 to 150 of about 5,681 (206)

RNA-based discovery and correction of splicing defects caused by <i>POLR3A</i> missense mutations. [PDF]

Mol Ther Nucleic Acids
Shkreta L, Delannoy A, Toutant J, McSwiggen J, Chabot B.   +4 more
europepmc   +1 more source

Leukodystrophy [PDF]

, 2019
openaire   +1 more source

Sonic Hedgehog signaling in oligodendrogenesis, myelination, demyelinating diseases, and remyelination. [PDF]

Neural Regen Res
Marchena-Fernández M, Sánchez-Camacho C, Muñoz-Sáez E, Macías-Castellano A, de Castro Soubriet F.   +4 more
europepmc   +1 more source

Characteristic MRI pattern in <i>LMNB1</i>-related autosomal dominant leukodystrophy: a case report. [PDF]

Front Neurosci
Wang YX, Du T, Yang CL, Zhang M, Duan RS.   +4 more
europepmc   +1 more source

Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches. [PDF]

Cell Commun Signal
Rey F, Casamassa A, Di Cristofano S, Esposito L, Soriano AA, Messa L, Berardo C, Hazrati M, Ferrone I, Bonnet M, Bruschi F, Vaia Y, Marano M, Bertini E, Nicita F, Tonduti D, Zuccotti G, Vescovi AL, Raimondo D, Rosati J, Carelli S, Cereda C.   +21 more
europepmc   +1 more source

Clinical Reasoning: A 63-Year-Old Female Patient Presenting With Orthostatic Hypotension and Ataxia. [PDF]

Neurology
Shen F, Graham EL, Opal P.
europepmc   +1 more source

SHQ1-related hypomyelinating leukodystrophy: A case report with imaging features and a homozygous variant. [PDF]

Radiol Case Rep
AlBathi A, AlMutairi A, AlDraihem A.
europepmc   +1 more source

"Case report": Whole-exome sequencing reveals compound heterozygous variants in the <i>EIF2B5</i> gene in a familial case of vanishing white matter. [PDF]

Front Genet
Savy S, Montes FA, Grosso CL, Laróvere LE, Silvera-Ruiz SM, Carro GH, Guelbert G, Becerra A, Morales D, Nicola JP.   +9 more
europepmc   +1 more source

Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study. [PDF]

Ann Child Neurol Soc
Kotes ER, Woidill S, D'Aiello R, Khan A, McCann J, Ramos M, Gavazzi F, Keller S, Van Haren K, Fatemi A, Eichler F, Bonkowsky J, Fraser J, Emrick L, Sherbini O, Hackett A, Gauna J, Amos D, Goodman J, Fine AS, Nagy A, Lee S, Page N, Schmidt J, Pizzino A, Muirhead K, Bennett M, Waldman A, Shults J, Adang L, Grundmeier R, Vanderver A.   +31 more
europepmc   +1 more source