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Results: 1 to 20 of 100

1.

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.

Arch Neurol. 2011 Sep;68(9):1191-4. doi: 10.1001/archneurol.2011.201. Review.

PMID:
21911699
[PubMed - indexed for MEDLINE]
2.

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.

Eur J Paediatr Neurol. 2013 Jan;17(1):108-11. doi: 10.1016/j.ejpn.2012.06.004. Epub 2012 Jun 30.

PMID:
22749724
[PubMed - indexed for MEDLINE]
3.

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.

Ann Neurol. 2007 Aug;62(2):121-7.

PMID:
17683097
[PubMed - indexed for MEDLINE]
4.

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.

AJNR Am J Neuroradiol. 2008 Feb;29(2):301-5. Epub 2007 Nov 1.

PMID:
17974614
[PubMed - indexed for MEDLINE]
Free Article
5.

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.

Biochem Biophys Res Commun. 2013 Sep 27;439(3):369-72. doi: 10.1016/j.bbrc.2013.08.077. Epub 2013 Aug 30.

PMID:
23998934
[PubMed - indexed for MEDLINE]
6.

A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract.

Ugur SA, Tolun A.

Eur J Hum Genet. 2008 Feb;16(2):261-4. Epub 2007 Oct 10.

PMID:
17928815
[PubMed - indexed for MEDLINE]
Free Article
7.

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.

Nat Genet. 2006 Oct;38(10):1111-3. Epub 2006 Sep 3.

PMID:
16951682
[PubMed - indexed for MEDLINE]
8.

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.

PLoS One. 2012;7(3):e32180. doi: 10.1371/journal.pone.0032180. Epub 2012 Mar 26.

PMID:
22461884
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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.

Brain. 2010 Oct;133(10):2971-82. doi: 10.1093/brain/awq257. Erratum in: Brain. 2013 Sep;136(Pt 9):2923.

PMID:
20881161
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.

Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K, Wada T, Morimoto M, Ando N, Ikuta Y, Nakashima M, Tsurusaki Y, Miyake N, Ogata K, Matsumoto N, Saitsu H.

Neurology. 2014 Jun 17;82(24):2230-7. doi: 10.1212/WNL.0000000000000535. Epub 2014 May 21.

PMID:
24850488
[PubMed - indexed for MEDLINE]
11.

Giant axonal neuropathy: clinical and genetic study in six cases.

Demir E, Bomont P, Erdem S, Cavalier L, Demirci M, Kose G, Muftuoglu S, Cakar AN, Tan E, Aysun S, Topcu M, Guicheney P, Koenig M, Topaloglu H.

J Neurol Neurosurg Psychiatry. 2005 Jun;76(6):825-32.

PMID:
15897506
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

J Neurol Sci. 2011 Jan 15;300(1-2):179-81. doi: 10.1016/j.jns.2010.09.009. Epub 2010 Sep 29.

PMID:
20884016
[PubMed - indexed for MEDLINE]
13.

The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.

Hoffman-Zacharska D, Mierzewska H, Szczepanik E, Poznański J, Mazurczak T, Jakubiuk-Tomaszuk A, Mądry J, Kierdaszuk A, Bal J.

Med Wieku Rozwoj. 2013 Oct-Dec;17(4):293-300.

PMID:
24519770
[PubMed - indexed for MEDLINE]
Free Article
14.

Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature.

Verheij JB, Sival DA, van der Hoeven JH, Vos YJ, Meiners LC, Brouwer OF, van Essen AJ.

Eur J Paediatr Neurol. 2006 Jan;10(1):11-7. Epub 2006 Feb 28.

PMID:
16504559
[PubMed - indexed for MEDLINE]
15.

Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.

Calvo J, Funalot B, Ouvrier RA, Lazaro L, Toutain A, De Mas P, Bouche P, Gilbert-Dussardier B, Arne-Bes MC, Carrière JP, Journel H, Minot-Myhie MC, Guillou C, Ghorab K, Magy L, Sturtz F, Vallat JM, Magdelaine C.

Arch Neurol. 2009 Dec;66(12):1511-6. doi: 10.1001/archneurol.2009.284.

PMID:
20008656
[PubMed - indexed for MEDLINE]
16.

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A.

Neurology. 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a.

PMID:
19770472
[PubMed - indexed for MEDLINE]
17.

A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity?

Yalcinkaya C, Erturk O, Tuysuz B, Yesil G, Verbeke JI, Keyser B, Stuhrmann M, Steinemann D, Sistermans EA, van der Knaap MS.

Neuropediatrics. 2012 Jun;43(3):159-61. doi: 10.1055/s-0032-1313912. Epub 2012 May 19.

PMID:
22610664
[PubMed - indexed for MEDLINE]
18.

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.

Huppke P, Brendel C, Kalscheuer V, Korenke GC, Marquardt I, Freisinger P, Christodoulou J, Hillebrand M, Pitelet G, Wilson C, Gruber-Sedlmayr U, Ullmann R, Haas S, Elpeleg O, Nürnberg G, Nürnberg P, Dad S, Møller LB, Kaler SG, Gärtner J.

Am J Hum Genet. 2012 Jan 13;90(1):61-8. doi: 10.1016/j.ajhg.2011.11.030. Erratum in: Am J Hum Genet. 2012 Feb 10;90(2):378.

PMID:
22243965
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.

Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, Bigot K, Catin F, Tattu L, Chopin C, Halimi P, Roche O, Van Regemorter N, Munier F, Schorderet D, Dufier JL, Marsac C, Ricquier D, Menasche M, Penfornis A, Abitbol M.

Mol Vis. 2007 Apr 2;13:511-23.

PMID:
17417613
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

[Molecular genetics of inherited neuropathies].

Takashima H.

Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Review. Japanese.

PMID:
16541790
[PubMed - indexed for MEDLINE]

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