Similar articles for PMID: 17030669

Year	Number of Results
1998	1
2000	1
2001	3
2002	2
2003	7
2004	11
2005	6
2006	7
2007	10
2008	18
2009	11
2010	7
2011	6
2012	2
2013	7
2014	7
2015	1
2016	2
2018	2
2019	1
2020	1
2021	2
2022	2
2023	1
2024	0

1

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. Biancheri R, et al. Arch Neurol. 2006 Oct;63(10):1491-5. doi: 10.1001/archneur.63.10.1491. Arch Neurol. 2006. PMID: 17030669

2

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. Yanagisawa A, et al. Neurology. 2007 Sep 18;69(12):1254-60. doi: 10.1212/01.wnl.0000268489.60809.c4. Epub 2007 Jul 18. Neurology. 2007. PMID: 17634419 Free article.

3

Diagnosis and etiology of congenital muscular dystrophy.

Peat RA, Smith JM, Compton AG, Baker NL, Pace RA, Burkin DJ, Kaufman SJ, Lamandé SR, North KN. Peat RA, et al. Neurology. 2008 Jul 29;71(5):312-21. doi: 10.1212/01.wnl.0000284605.27654.5a. Epub 2007 Dec 26. Neurology. 2008. PMID: 18160674

4

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. Clement E, et al. Ann Neurol. 2008 Nov;64(5):573-82. doi: 10.1002/ana.21482. Ann Neurol. 2008. PMID: 19067344

5

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. Hehr U, et al. Neurogenetics. 2007 Nov;8(4):279-88. doi: 10.1007/s10048-007-0096-y. Epub 2007 Sep 29. Neurogenetics. 2007. PMID: 17906881

6

Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene.

Lamperti C, Cagliani R, Ciscato P, Moroni I, Viri M, Romeo A, Fagiolari G, Prelle A, Comi GP, Bresolin N, Moggio M. Lamperti C, et al. J Neurol Sci. 2006 Apr 15;243(1-2):47-51. doi: 10.1016/j.jns.2005.11.024. Epub 2006 Jan 4. J Neurol Sci. 2006. PMID: 16386759

7

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. Godfrey C, et al. Brain. 2007 Oct;130(Pt 10):2725-35. doi: 10.1093/brain/awm212. Epub 2007 Sep 18. Brain. 2007. PMID: 17878207

8

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. Clement EM, et al. Arch Neurol. 2008 Jan;65(1):137-41. doi: 10.1001/archneurol.2007.2. Arch Neurol. 2008. PMID: 18195152

9

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E. Mercuri E, et al. Neurology. 2009 May 26;72(21):1802-9. doi: 10.1212/01.wnl.0000346518.68110.60. Epub 2009 Mar 18. Neurology. 2009. PMID: 19299310

10

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. Demir E, et al. Neuromuscul Disord. 2009 Oct;19(10):692-5. doi: 10.1016/j.nmd.2009.07.006. Epub 2009 Aug 12. Neuromuscul Disord. 2009. PMID: 19679478

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