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Items: 1 to 20 of 500

1.
Roles of Fukutin, the Gene Responsible for Fukuyama-Type Congenital Muscular Dystrophy, in Neurons: Possible Involvement in Synaptic Function and Neuronal Migration
Atsuko Hiroi, Tomoko Yamamoto, Noriyuki Shibata, Makiko Osawa, Makio Kobayashi
Acta Histochem Cytochem. 2011 Apr 28; 44(2): 91–101. Published online 2011 Apr 21. doi: 10.1267/ahc.10045
PMCID:
PMC3096086
AbstractArticlePDF–1.6M
2.
Characteristics of neurons and glia in the brain of Fukuyama type congenital muscular dystrophy
T Yamamoto, Y Kato, M Kawaguchi-Niida, N Shibata, M Osawa, K Saito, S Kröger, M Kobayashi
Acta Myol. 2008 Jul; 27(1): 9–13.
PMCID:
PMC2859607
AbstractArticlePDF–375K
3.
Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb.
T. Toda, M. Miyake, K. Kobayashi, K. Mizuno, K. Saito, M. Osawa, Y. Nakamura, I. Kanazawa, Y. Nakagome, K. Tokunaga, Y. Nakahori
Am J Hum Genet. 1996 Dec; 59(6): 1313–1320.
PMCID:
PMC1914860
SummaryPage BrowsePDF–1.4M
4.
Refined Mapping of a Gene Responsible for Fukuyama-Type Congenital Muscular Dystrophy: Evidence for Strong Linkage Disequilibrium
Tatsushi Toda, Shiro Ikegawa, Keiko Okui, Eri Kondo, Kayoko Saito, Yukio Fukuyama, Mieko Yoshioka, Toshiyuki Kumagai, Kaoru Suzumori, Ichiro Kanazawa, Yusuke Nakamura
Am J Hum Genet. 1994 Nov; 55(5): 946–950.
PMCID:
PMC1918318
SummaryPage BrowsePDF–814K
5.
A role of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in cancer cells: a possible role to suppress cell proliferation
Tomoko Yamamoto, Yoichiro Kato, Noriyuki Shibata, Tatsuo Sawada, Makiko Osawa, Makio Kobayashi
Int J Exp Pathol. 2008 Oct; 89(5): 332–341. doi: 10.1111/j.1365-2613.2008.00599.x
PMCID:
PMC2613979
AbstractArticlePDF–474K
6.
Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly
Samira Ismail, Ashleigh E. Schaffer, Rasim O. Rosti, Joseph G. Gleeson, Maha S. Zaki
Gene. Author manuscript; available in PMC 2017 Jan 11.
Published in final edited form as: Gene. 2014 Apr 15; 539(2): 279–282. Published online 2014 Feb 13. doi: 10.1016/j.gene.2014.01.070
PMCID:
PMC5226855
AbstractArticlePDF–510K
7.
Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy
Terumi Murakami, Takatoshi Sato, Michiru Adachi, Kumiko Ishiguro, Minobu Shichiji, Hisateru Tachimori, Satoru Nagata, Keiko Ishigaki
Sci Rep. 2021; 11: 24229. Published online 2021 Dec 20. doi: 10.1038/s41598-021-03781-z
Correction in:
Sci Rep. 2022; 12: 13263.
PMCID:
PMC8688455
AbstractArticlePDF–1.1M
8.
Fukuyama Congenital Muscular Dystrophy
Amit Agarwal, Shyamsunder Sabat, Sangam Kanekar
Cureus. 2022 Feb; 14(2): e21902. Published online 2022 Feb 4. doi: 10.7759/cureus.21902
PMCID:
PMC8901159
AbstractArticlePDF–284K
9.
Brain MR in Fukuyama congenital muscular dystrophy.
N Aida, K Tamagawa, K Takada, A Yagishita, N Kobayashi, K Chikumaru, H Iwamoto
AJNR Am J Neuroradiol. 1996 Apr; 17(4): 605-13.
PMCID:
PMC8337276
SummaryPDF–886K
10.
Cerebellar MR in Fukuyama congenital muscular dystrophy: polymicrogyria with cystic lesions.
N Aida, A Yagishita, K Takada, Y Katsumata
AJNR Am J Neuroradiol. 1994 Oct; 15(9): 1755-9.
PMCID:
PMC8333743
SummaryPDF–2.4M
11.
Ethnically Diverse Causes of Walker-Warburg Syndrome (WWS): FCMD Mutations Are a More Common Cause of WWS Outside of the Middle East
M. Chiara Manzini, Danielle Gleason, Bernard S. Chang, R. Sean Hill, Brenda J. Barry, Jennifer N. Partlow, Annapurna Poduri, Sophie Currier, Patricia Galvin-Parton, Lawrence R. Shapiro, Karen Schmidt, Jessica G. Davis, Lina Basel-Vanagaite, Mohamed Z. Seidahmed, Mustafa A. M. Salih, William B. Dobyns, Christopher A. Walsh
Hum Mutat. Author manuscript; available in PMC 2009 May 1.
Published in final edited form as: Hum Mutat. 2008 Nov; 29(11): E231–E241. doi: 10.1002/humu.20844
PMCID:
PMC2577713
AbstractArticlePDF–846K
12.
New MRI Findings in Fukuyama Congenital Muscular Dystrophy: Brain Stem and Venous System Anomalies
A. Hirasawa-Inoue, N. Sato, Y. Shigemoto, Y. Kimura, A. Ishiyama, E. Takeshita, M. Mori-Yoshimura, Y. Oya, Y. Takahashi, H. Komaki, H. Matsuda, M. Sasaki
AJNR Am J Neuroradiol. 2020 Jun; 41(6): 1094–1098. doi: 10.3174/ajnr.A6577
PMCID:
PMC7342762
AbstractArticlePDF–1.2M
13.
Contribution of Dysferlin Deficiency to Skeletal Muscle Pathology in Asymptomatic and Severe Dystroglycanopathy Models: Generation of a New Model for Fukuyama Congenital Muscular Dystrophy
Motoi Kanagawa, Zhongpeng Lu, Chiyomi Ito, Chie Matsuda, Katsuya Miyake, Tatsushi Toda
PLoS One. 2014; 9(9): e106721. Published online 2014 Sep 8. doi: 10.1371/journal.pone.0106721
PMCID:
PMC4157776
AbstractArticlePDF–9.2M
14.
Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy.
A H Beggs, P E Neumann, K Arahata, E Arikawa, I Nonaka, M S Anderson, L M Kunkel
Proc Natl Acad Sci U S A. 1992 Jan 15; 89(2): 623–627. doi: 10.1073/pnas.89.2.623
PMCID:
PMC48291
SummaryPage BrowsePDF–1.1M
15.
Mechanisms of Disease: congenital muscular dystrophies—glycosylation takes center stage
Paul T Martin
Nat Clin Pract Neurol. Author manuscript; available in PMC 2010 Apr 16.
Published in final edited form as: Nat Clin Pract Neurol. 2006 Apr; 2(4): 222–230. doi: 10.1038/ncpneuro0155
PMCID:
PMC2855642
AbstractArticlePDF–632K
16.
Mislocalization of Fukutin Protein by Disease-causing Missense Mutations Can Be Rescued with Treatments Directed at Folding Amelioration
Masaji Tachikawa, Motoi Kanagawa, Chih-Chieh Yu, Kazuhiro Kobayashi, Tatsushi Toda
J Biol Chem. 2012 Mar 9; 287(11): 8398–8406. Published online 2012 Jan 24. doi: 10.1074/jbc.M111.300905
PMCID:
PMC3318729
AbstractArticlePDF–1.7M
17.
Distinct Functions of Glial and Neuronal Dystroglycan in the Developing and Adult Mouse Brain
Jakob S. Satz, Adam P. Ostendorf, Shangwei Hou, Amy Turner, Hajime Kusano, Jane C. Lee, Rolf Turk, Huy Nguyen, Susan E. Ross-Barta, Steve Westra, Toshinori Hoshi, Steven A. Moore, Kevin P. Campbell
J Neurosci. 2010 Oct 27; 30(43): 14560–14572. doi: 10.1523/JNEUROSCI.3247-10.2010
PMCID:
PMC2979314
AbstractArticlePDF–6.6M
18.
Post-transcriptional regulation of fukutin in an astrocytoma cell line
Tomoko Yamamoto, Yoichiro Kato, Atsuko Hiroi, Noriyuki Shibata, Makiko Osawa, Makio Kobayashi
Int J Exp Pathol. 2012 Feb; 93(1): 46–55. doi: 10.1111/j.1365-2613.2011.00799.x
PMCID:
PMC3311021
AbstractArticlePDF–694K
19.
Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan–Related Muscular Disorders
G. Talenti, C. Robson, M.S. Severino, C.A. Alves, D. Chitayat, H. Dahmoush, L. Smith, F. Muntoni, S.I. Blaser, F. D’Arco
AJNR Am J Neuroradiol. 2021 Jan; 42(1): 167–172. doi: 10.3174/ajnr.A6858
PMCID:
PMC7814787
AbstractArticlePDF–834K
20.
Developmental Expression of the Neuron-specific N-Acetylglucosaminyltransferase Vb (GnT-Vb/IX) and Identification of Its in Vivo Glycan Products in Comparison with Those of Its Paralog, GnT-V
Jin Kyu Lee, Russell T. Matthews, Jae-Min Lim, Kiara Swanier, Lance Wells, J. Michael Pierce
J Biol Chem. 2012 Aug 17; 287(34): 28526–28536. Published online 2012 Jun 19. doi: 10.1074/jbc.M112.367565
PMCID:
PMC3436567
AbstractArticlePDF–1.4M

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