PMC Articles for MedGen (Select 1631337) - PMC

Select item 27894061.

Eukaryotic Initiation Factor 2B (eIF2B) GEF Activity as a Diagnostic Tool for EIF2B-Related Disorders

Laetitia Horzinski, Aurélia Huyghe, Marie-Céleste Cardoso, Céline Gonthier, Lemlih Ouchchane, Raphael Schiffmann, Pierre Blanc, Odile Boespflug-Tanguy, Anne Fogli

PLoS One. 2009; 4(12): e8318. Published online 2009 Dec 15. doi: 10.1371/journal.pone.0008318

PMCID:: PMC2789406

Abstract Article PDF–225K

Select item 103934122.

A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis

Doriana Misceo, Lisa Lirussi, Petter Strømme, Dulika Sumathipala, Andrea Guerin, Nicole I Wolf, Andres Server, Maria Stensland, Bjørn Dalhus, Aslıhan Tolun, Hester Y Kroes, Tuula A Nyman, Hilde L Nilsen, Eirik Frengen

Brain. 2023 Aug; 146(8): 3513–3527. Published online 2023 Mar 14. doi: 10.1093/brain/awad086

PMCID:: PMC10393412

Abstract Article PDF–1.1M

Select item 100274833.

Identification of a de novo Mutation in TMEM106B in a Saudi Child Causes Hypomyelination Leukodystrophy

Lena Alotaibi, Amal Alqasmi

Glob Med Genet. 2023 Jan; 10(1): 38–41. Published online 2023 Mar 20. doi: 10.1055/s-0043-1764370

PMCID:: PMC10027483

Abstract Article PDF–290K

Select item 88104354.

Possible EIF2AK2‐Associated Stress‐Related Neurological Decompensation with Combined Dystonia and Striatal Lesions

Sophie E. Waller, Hugo Morales‐Briceño, Laura Williams, Shekeeb S. Mohammad, Avi Fellner, Kishore R. Kumar, Michel Tchan, Victor S.C. Fung

Mov Disord Clin Pract. 2022 Feb; 9(2): 240–244. Published online 2021 Dec 16. doi: 10.1002/mdc3.13384

PMCID:: PMC8810435

Abstract Article PDF–539K

Select item 87896905.

POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients

Ilaria Di Donato, Antonio Gallo, Ivana Ricca, Nicola Fini, Gabriella Silvestri, Fiorella Gurrieri, Mario Cirillo, Alfonso Cerase, Gemma Natale, Federica Matrone, Vittorio Riso, Mariarosa Anna Beatrice Melone, Alessandra Tessa, Giovanna De Michele, Antonio Federico, Alessandro Filla, Maria Teresa Dotti, Filippo Maria Santorelli

Neurol Sci. 2022; 43(2): 1071–1077. Published online 2021 Jul 23. doi: 10.1007/s10072-021-05462-1

PMCID:: PMC8789690

Abstract Article PDF–754K

Select item 45578386.

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description

Roberta Battini, Silvano Bertelloni, Guja Astrea, Manuela Casarano, Lorena Travaglini, Giampiero Baroncelli, Rosa Pasquariello, Enrico Bertini, Giovanni Cioni

BMC Med Genet. 2015; 16: 53. Published online 2015 Jul 25. doi: 10.1186/s12881-015-0203-0

PMCID:: PMC4557838

Abstract Article PDF–2.4M

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