PMC Articles for MedGen (Select 868349) - PMC

Select item 91780081.

A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes

You-Ri Kang, So-Hyun Lee, Ni-Hsuan Lin, Seung-Jin Lee, Ai-Wen Yang, Gopalakrishnan Chandrasekaran, Kyung Wook Kang, Mi Sun Jin, Myeong-Kyu Kim, Ming-Der Perng, Seok-Yong Choi, Tai-Seung Nam

Eur J Hum Genet. 2022 Jun; 30(6): 687–694. Published online 2022 Mar 4. doi: 10.1038/s41431-022-01073-2

PMCID:: PMC9178008

Abstract Article PDF–1.3M

Select item 83382452.

Familial arteriopathic leukoencephalopathy: imaging and neuropathologic findings.

P Glusker, D S Horoupian, B Lane

AJNR Am J Neuroradiol. 1998 Mar; 19(3): 469-75.

PMCID:: PMC8338245

Summary PDF–1.3M

Select item 83375413.

White matter changes associated with deletions of the long arm of chromosome 18 (18q- syndrome): a dysmyelinating disorder?

L A Loevner, R M Shapiro, R I Grossman, J Overhauser, J Kamholz

AJNR Am J Neuroradiol. 1996 Nov-Dec; 17(10): 1843-8.

PMCID:: PMC8337541

Summary PDF–292K

Select item 79760644.

Pantothenate Kinase-Associated Neurodegeneration with Increased Lentiform Nuclei Cerebral Blood Flow

M. Koyama, A. Yagishita

AJNR Am J Neuroradiol. 2006 Jan; 27(1): 212–213.

PMCID:: PMC7976064

Abstract Article PDF–243K

Select item 70538995.

GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination

L. Saint-Val, T. Courtin, P. Charles, C. Verny, M. Catala, R. Schiffmann, O. Boespflug-Tanguy, F. Mochel

AJNR Am J Neuroradiol. 2019 May; 40(5): 788–791. doi: 10.3174/ajnr.A6036

PMCID:: PMC7053899

Abstract Article PDF–759K

Select item 41004706.

Exome Sequencing in Familial Corticobasal Degeneration

Robert Fekete, Matthew Bainbridge, Jose Fidel Baizabal-Carvallo, Andreana Rivera, Bradley Miller, Peicheng Du, Vladyslav Kholodovich, Suzanne Powell, William Ondo

Parkinsonism Relat Disord. Author manuscript; available in PMC 2014 Jul 16.

Published in final edited form as: Parkinsonism Relat Disord. 2013 Nov; 19(11): 1049–1052. Published online 2013 Jul 16. doi: 10.1016/j.parkreldis.2013.06.016

PMCID:: PMC4100470

Abstract Article PDF–389K

Select item 27061547.

T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation

A McNeill, D Birchall, S J. Hayflick, A Gregory, J F. Schenk, E A. Zimmerman, H Shang, H Miyajima, P F. Chinnery

Neurology. 2008 Apr 29; 70(18): 1614–1619. doi: 10.1212/01.wnl.0000310985.40011.d6

PMCID:: PMC2706154

Abstract Article PDF–889K

Select item 20994588.

Brain MRI in Neurodegeneration with Brain Iron Accumulation with and without PANK2 Mutations

S.J. Hayflick, M. Hartman, J. Coryell, J. Gitschier, H. Rowley

AJNR Am J Neuroradiol. 2006 Jun; 27(6): 1230–1233.

PMCID:: PMC2099458

Abstract Article PDF–190K

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