Similar articles for PMID: 17974614

Year	Number of Results
1891	1
1892	1
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2004	8
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2018	6
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1

Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder.

Rossi A, Biancheri R, Zara F, Bruno C, Uziel G, van der Knaap MS, Minetti C, Tortori-Donati P. Rossi A, et al. AJNR Am J Neuroradiol. 2008 Feb;29(2):301-5. doi: 10.3174/ajnr.A0792. Epub 2007 Nov 1. AJNR Am J Neuroradiol. 2008. PMID: 17974614 Free PMC article.

2

Phenotypic characterization of hypomyelination and congenital cataract.

Biancheri R, Zara F, Bruno C, Rossi A, Bordo L, Gazzerro E, Sotgia F, Pedemonte M, Scapolan S, Bado M, Uziel G, Bugiani M, Lamba LD, Costa V, Schenone A, Rozemuller AJ, Tortori-Donati P, Lisanti MP, van der Knaap MS, Minetti C. Biancheri R, et al. Ann Neurol. 2007 Aug;62(2):121-7. doi: 10.1002/ana.21175. Ann Neurol. 2007. PMID: 17683097

3

Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families.

Traverso M, Yuregir OO, Mimouni-Bloch A, Rossi A, Aslan H, Gazzerro E, Baldassari S, Fruscione F, Minetti C, Zara F, Biancheri R. Traverso M, et al. Eur J Paediatr Neurol. 2013 Jan;17(1):108-11. doi: 10.1016/j.ejpn.2012.06.004. Epub 2012 Jun 30. Eur J Paediatr Neurol. 2013. PMID: 22749724

4

Hypomyelination and congenital cataract: broadening the clinical phenotype.

Biancheri R, Zara F, Rossi A, Mathot M, Nassogne MC, Yalcinkaya C, Erturk O, Tuysuz B, Di Rocco M, Gazzerro E, Bugiani M, van Spaendonk R, Sistermans EA, Minetti C, van der Knaap MS, Wolf NI. Biancheri R, et al. Arch Neurol. 2011 Sep;68(9):1191-4. doi: 10.1001/archneurol.2011.201. Arch Neurol. 2011. PMID: 21911699 Review.

5

Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein.

Gazzerro E, Baldassari S, Giacomini C, Musante V, Fruscione F, La Padula V, Biancheri R, Scarfì S, Prada V, Sotgia F, Duncan ID, Zara F, Werner HB, Lisanti MP, Nobbio L, Corradi A, Minetti C. Gazzerro E, et al. PLoS One. 2012;7(3):e32180. doi: 10.1371/journal.pone.0032180. Epub 2012 Mar 26. PLoS One. 2012. PMID: 22461884 Free PMC article.

6

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.

Zara F, Biancheri R, Bruno C, Bordo L, Assereto S, Gazzerro E, Sotgia F, Wang XB, Gianotti S, Stringara S, Pedemonte M, Uziel G, Rossi A, Schenone A, Tortori-Donati P, van der Knaap MS, Lisanti MP, Minetti C. Zara F, et al. Nat Genet. 2006 Oct;38(10):1111-3. doi: 10.1038/ng1870. Epub 2006 Sep 3. Nat Genet. 2006. PMID: 16951682

7

Magnetic resonance imaging pattern recognition in hypomyelinating disorders.

Steenweg ME, Vanderver A, Blaser S, Bizzi A, de Koning TJ, Mancini GM, van Wieringen WN, Barkhof F, Wolf NI, van der Knaap MS. Steenweg ME, et al. Brain. 2010 Oct;133(10):2971-82. doi: 10.1093/brain/awq257. Brain. 2010. PMID: 20881161 Free PMC article.

8

A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataract.

Sato I, Onuma A, Goto N, Sakai F, Fujiwara I, Uematsu M, Osaka H, Okahashi S, Nonaka I, Tanaka S, Haginoya K. Sato I, et al. J Neurol Sci. 2011 Jan 15;300(1-2):179-81. doi: 10.1016/j.jns.2010.09.009. Epub 2010 Sep 29. J Neurol Sci. 2011. PMID: 20884016

9

Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN).

Cordelli DM, Garone C, Marchiani V, Lodi R, Tonon C, Ferrari S, Seri M, Franzoni E. Cordelli DM, et al. Neuromuscul Disord. 2010 May;20(5):343-5. doi: 10.1016/j.nmd.2010.03.003. Epub 2010 Mar 28. Neuromuscul Disord. 2010. PMID: 20350809

10

Novel FAM126A mutations in hypomyelination and congenital cataract disease.

Traverso M, Assereto S, Gazzerro E, Savasta S, Abdalla EM, Rossi A, Baldassari S, Fruscione F, Ruffinazzi G, Fassad MR, El Beheiry A, Minetti C, Zara F, Biancheri R. Traverso M, et al. Biochem Biophys Res Commun. 2013 Sep 27;439(3):369-72. doi: 10.1016/j.bbrc.2013.08.077. Epub 2013 Aug 30. Biochem Biophys Res Commun. 2013. PMID: 23998934

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