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Best matches for leukodystrophy:

Leukodystrophy: Basic and Clinical. Raymond GV et al. Adv Neurobiol. (2017)

Gene therapy for metachromatic leukodystrophy. Rosenberg JB et al. J Neurosci Res. (2016)

Vanishing white matter: a leukodystrophy due to astrocytic dysfunction. Bugiani M et al. Brain Pathol. (2018)

Search results

Items: 1 to 20 of 3728

1.

Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene.

Masneri S, Lanzi G, Ferraro RM, Barisani C, Piovani G, Savio G, Cattalini M, Galli J, Cereda C, Muzi-Falconi M, Orcesi S, Fazzi E, Giliani S.

Stem Cell Res. 2019 Oct 22;41:101623. doi: 10.1016/j.scr.2019.101623. [Epub ahead of print]

2.

LMNB1-Related Adult-Onset Autosomal Dominant Leukodystrophy Presenting as Movement Disorder: A Case Report and Review of the Literature.

Zhang Y, Li J, Bai R, Wang J, Peng T, Chen L, Wang J, Liu Y, Tian T, Lu H.

Front Neurosci. 2019 Oct 21;13:1030. doi: 10.3389/fnins.2019.01030. eCollection 2019.

3.

Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD).

Hettiarachchi D, Dissanayake VHW.

BMC Res Notes. 2019 Nov 6;12(1):726. doi: 10.1186/s13104-019-4773-3.

4.

Recent advances in the genetics of frontotemporal dementia.

Sirkis DW, Geier EG, Bonham LW, Karch CM, Yokoyama JS.

Curr Genet Med Rep. 2019 Mar;7(1):41-52. doi: 10.1007/s40142-019-0160-6. Epub 2019 Jan 30.

PMID:
31687268
5.

Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective.

Beerepoot S, Nierkens S, Boelens JJ, Lindemans C, Bugiani M, Wolf NI.

Orphanet J Rare Dis. 2019 Nov 4;14(1):240. doi: 10.1186/s13023-019-1220-4. Review.

6.

Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander Disease severity.

Battaglia RA, Beltran AS, Delic S, Dumitru R, Robinson JA, Kabiraj P, Herring LE, Madden VJ, Ravinder N, Willems E, Newman RA, Quinlan RA, Goldman JE, Perng MD, Inagaki M, Snider NT.

Elife. 2019 Nov 4;8. pii: e47789. doi: 10.7554/eLife.47789. [Epub ahead of print]

7.

Visual pathways evaluation in Kearns Sayre syndrome: a diffusion tensor imaging study.

Rossi-Espagnet MC, Lucignani M, Pasquini L, Napolitano A, Pro S, Romano A, Diodato D, Martinelli D, Longo D.

Neuroradiology. 2019 Nov 4. doi: 10.1007/s00234-019-02302-0. [Epub ahead of print]

PMID:
31680196
8.

Mitochondrial dysfunctions in leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL).

Lin TK, Chang YY, Lin HY, Liou CW, Wang PW, Chuang JH, Chen SD, Chuang YC, Huang ST, Hsu TY, Peng CH, Lan MY.

PLoS One. 2019 Oct 31;14(10):e0224173. doi: 10.1371/journal.pone.0224173. eCollection 2019.

9.

Teaching NeuroImages: A rare case of metachromatic leukodystrophy with multiple bilateral cranial nerve enhancement.

Sonowal P, Lulla D, Weber A, Altinok D.

Neurology. 2019 Oct 29;93(18):e1742-e1743. doi: 10.1212/WNL.0000000000008400. No abstract available.

PMID:
31659141
10.

Effect of Delayed Diagnosis of Phenylketonuria With Imaging Findings of Bilateral Diffuse Symmetric White Matter Lesions: A Case Report and Literature Review.

Chen S, Zhu M, Hao Y, Feng J, Zhang Y.

Front Neurol. 2019 Oct 4;10:1040. doi: 10.3389/fneur.2019.01040. eCollection 2019.

11.

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants.

Lipiński P, Stawiński P, Rydzanicz M, Wypchło M, Płoski R, Stradomska TJ, Jurkiewicz E, Ferdinandusse S, Wanders RJA, Vaz FM, Tylki-Szymańska A.

J Appl Genet. 2019 Oct 18. doi: 10.1007/s13353-019-00523-w. [Epub ahead of print]

PMID:
31628608
12.

Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.

Yan H, Helman G, Murthy SE, Ji H, Crawford J, Kubisiak T, Bent SJ, Xiao J, Taft RJ, Coombs A, Wu Y, Pop A, Li D, de Vries LS, Jiang Y, Salomons GS, van der Knaap MS, Patapoutian A, Simons C, Burmeister M, Wang J, Wolf NI.

Am J Hum Genet. 2019 Nov 7;105(5):996-1004. doi: 10.1016/j.ajhg.2019.09.011. Epub 2019 Oct 3.

PMID:
31587869
13.

Oligodendrocyte Death in Pelizaeus-Merzbacher Disease Is Rescued by Iron Chelation.

Nobuta H, Yang N, Ng YH, Marro SG, Sabeur K, Chavali M, Stockley JH, Killilea DW, Walter PB, Zhao C, Huie P Jr, Goldman SA, Kriegstein AR, Franklin RJM, Rowitch DH, Wernig M.

Cell Stem Cell. 2019 Oct 3;25(4):531-541.e6. doi: 10.1016/j.stem.2019.09.003.

PMID:
31585094
14.

TSEN54 missense variant in Standard Schnauzers with leukodystrophy.

Störk T, Nessler J, Anderegg L, Hünerfauth E, Schmutz I, Jagannathan V, Kyöstilä K, Lohi H, Baumgärtner W, Tipold A, Leeb T.

PLoS Genet. 2019 Oct 4;15(10):e1008411. doi: 10.1371/journal.pgen.1008411. eCollection 2019 Oct.

15.

Astroglia in Leukodystrophies.

Jorge MS, Bugiani M.

Adv Exp Med Biol. 2019;1175:199-225. doi: 10.1007/978-981-13-9913-8_9. Review.

PMID:
31583590
16.

General Pathophysiology of Astroglia.

Verkhratsky A, Ho MS, Vardjan N, Zorec R, Parpura V.

Adv Exp Med Biol. 2019;1175:149-179. doi: 10.1007/978-981-13-9913-8_7. Review.

PMID:
31583588
17.

POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene.

Kulhánek J, Brožová K, Hansíková H, Vondráčková A, Stránecký V, Šenkyřík J, Kmoch S, Zeman J, Honzík T, Tesařová M.

Neurol Neurochir Pol. 2019;53(5):369-376. doi: 10.5603/PJNNS.a2019.0042. Epub 2019 Oct 2.

PMID:
31577365
18.

Developmental Outcomes of Aicardi Goutières Syndrome.

Adang L, Gavazzi F, De Simone M, Fazzi E, Galli J, Koh J, Kramer-Golinkoff J, De Giorgis V, Orcesi S, Peer K, Ulrick N, Woidill S, Shults J, Vanderver A.

J Child Neurol. 2019 Sep 27:883073819870944. doi: 10.1177/0883073819870944. [Epub ahead of print]

PMID:
31559893
19.

Two novel mutations of PEX6 in one Chinese Zellweger spectrum disorder and their clinical characteristics.

Yu HL, Shen Y, Sun YM, Zhang Y.

Ann Transl Med. 2019 Aug;7(16):368. doi: 10.21037/atm.2019.06.42.

20.

Knockdown of APOPT1/COA8 Causes Cytochrome c Oxidase Deficiency, Neuromuscular Impairment, and Reduced Resistance to Oxidative Stress in Drosophila melanogaster.

Brischigliaro M, Corrà S, Tregnago C, Fernandez-Vizarra E, Zeviani M, Costa R, De Pittà C.

Front Physiol. 2019 Sep 6;10:1143. doi: 10.3389/fphys.2019.01143. eCollection 2019.

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