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Results: 1 to 20 of 120

Similar articles for PubMed (Select 23689641)

1.

Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.

Jiao H, Manya H, Wang S, Zhang Y, Li X, Xiao J, Yang Y, Kobayashi K, Toda T, Endo T, Wu X, Xiong H.

Mol Genet Genomics. 2013 Aug;288(7-8):297-308. doi: 10.1007/s00438-013-0749-5. Epub 2013 May 21.

PMID:
23689641
2.

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.

Hehr U, Uyanik G, Gross C, Walter MC, Bohring A, Cohen M, Oehl-Jaschkowitz B, Bird LM, Shamdeen GM, Bogdahn U, Schuierer G, Topaloglu H, Aigner L, Lochmüller H, Winkler J.

Neurogenetics. 2007 Nov;8(4):279-88. Epub 2007 Sep 29.

PMID:
17906881
3.

[Clinical and mutation analysis of a Chinese family with muscle eye brain disease].

Jiao H, Xiong H, Zhang YZ, Wang S, Yang YL, Wu XR.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Oct;28(5):481-4. doi: 10.3760/cma.j.issn.1003-9406.2011.05.001. Chinese.

PMID:
21983716
4.

Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.

Yiş U, Uyanik G, Rosendahl DM, Carman KB, Bayram E, Heise M, Cömertpay G, Kurul SH.

Pediatr Neurol. 2014 May;50(5):491-7. doi: 10.1016/j.pediatrneurol.2014.01.008. Epub 2014 Jan 7.

PMID:
24731844
5.

Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.

Saredi S, Ardissone A, Ruggieri A, Mottarelli E, Farina L, Rinaldi R, Silvestri E, Gandioli C, D'Arrigo S, Salerno F, Morandi L, Grammatico P, Pantaleoni C, Moroni I, Mora M.

J Neurol Sci. 2012 Jul 15;318(1-2):45-50. doi: 10.1016/j.jns.2012.04.008. Epub 2012 May 2.

6.

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F.

Brain. 2007 Oct;130(Pt 10):2725-35. Epub 2007 Sep 18.

7.

New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.

Yanagisawa A, Bouchet C, Van den Bergh PY, Cuisset JM, Viollet L, Leturcq F, Romero NB, Quijano-Roy S, Fardeau M, Seta N, Guicheney P.

Neurology. 2007 Sep 18;69(12):1254-60. Epub 2007 Jul 18.

PMID:
17634419
8.

Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies.

Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M, Eude-Caye A, Charluteau E, Besson C, Quentin S, Devisme L, Le Bizec C, Landrieu P, Goldenberg A, Maincent K, Loget P, Boute O, Gilbert-Dussardier B, Encha-Razavi F, Gonzales M, Grandchamp B, Seta N.

Neuromuscul Disord. 2011 Nov;21(11):782-90. doi: 10.1016/j.nmd.2011.06.001. Epub 2011 Jul 2.

PMID:
21727005
9.

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.

Yis U, Uyanik G, Heck PB, Smitka M, Nobel H, Ebinger F, Dirik E, Feng L, Kurul SH, Brocke K, Unalp A, Özer E, Cakmakci H, Sewry C, Cirak S, Muntoni F, Hehr U, Morris-Rosendahl DJ.

Neuromuscul Disord. 2011 Jan;21(1):20-30. doi: 10.1016/j.nmd.2010.08.007. Epub 2010 Oct 18.

PMID:
20961758
10.

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.

Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T.

Hum Mol Genet. 2003 Mar 1;12(5):527-34.

11.

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

Clement EM, Godfrey C, Tan J, Brockington M, Torelli S, Feng L, Brown SC, Jimenez-Mallebrera C, Sewry CA, Longman C, Mein R, Abbs S, Vajsar J, Schachter H, Muntoni F.

Arch Neurol. 2008 Jan;65(1):137-41. doi: 10.1001/archneurol.2007.2.

PMID:
18195152
12.

POMGnT1 gene alterations in a family with neurological abnormalities.

Vervoort VS, Holden KR, Ukadike KC, Collins JS, Saul RA, Srivastava AK.

Ann Neurol. 2004 Jul;56(1):143-8.

PMID:
15236414
13.

Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.

Raducu M, Cotarelo RP, Simón R, Camacho A, Rubio-Fernández M, Hernández-Laín A, Cruces J.

J Child Neurol. 2014 Feb;29(2):289-94. doi: 10.1177/0883073813509119. Epub 2013 Nov 25.

PMID:
24282183
14.

An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement.

Demir E, Gucuyener K, Akturk A, Talim B, Konus O, Del Bo R, Ghezzi S, Comi GP.

Neuromuscul Disord. 2009 Oct;19(10):692-5. doi: 10.1016/j.nmd.2009.07.006. Epub 2009 Aug 12.

PMID:
19679478
15.

Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.

Teber S, Sezer T, Kafali M, Manzini MC, Konuk Yüksel B, Tekin M, Fitöz S, Walsh CA, Deda G.

Eur J Paediatr Neurol. 2008 Mar;12(2):133-6. Epub 2007 Sep 18.

PMID:
17881266
16.

Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

Oliveira J, Soares-Silva I, Fokkema I, Gonçalves A, Cabral A, Diogo L, Galán L, Guimarães A, Fineza I, den Dunnen JT, Santos R.

J Hum Genet. 2008;53(6):565-72. doi: 10.1007/s10038-008-0263-5. Epub 2008 Mar 11.

PMID:
18330676
17.

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

Biancheri R, Bertini E, Falace A, Pedemonte M, Rossi A, D'Amico A, Scapolan S, Bergamino L, Petrini S, Cassandrini D, Broda P, Manfredi M, Zara F, Santorelli FM, Minetti C, Bruno C.

Arch Neurol. 2006 Oct;63(10):1491-5.

PMID:
17030669
18.

Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.

Zhang W, Vajsar J, Cao P, Breningstall G, Diesen C, Dobyns W, Herrmann R, Lehesjoki AE, Steinbrecher A, Talim B, Toda T, Topaloglu H, Voit T, Schachter H.

Clin Biochem. 2003 Jul;36(5):339-44.

PMID:
12849864
19.

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F.

Ann Neurol. 2008 Nov;64(5):573-82. doi: 10.1002/ana.21482.

PMID:
19067344
20.

POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.

Yanagisawa A, Bouchet C, Quijano-Roy S, Vuillaumier-Barrot S, Clarke N, Odent S, Rodriguez D, Romero NB, Osawa M, Endo T, Taratuto AL, Seta N, Guicheney P.

Eur J Med Genet. 2009 Jul-Aug;52(4):201-6. doi: 10.1016/j.ejmg.2008.12.004. Epub 2008 Dec 27.

PMID:
19138766
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