Format
Items per page
Sort by

Send to:

Choose Destination

Results: 14

PubMed Links for Books (Select 1465622)

1.

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
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
3.

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
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.

5.

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.

6.

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
7.

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia.

Timmons M, Tsokos M, Asab MA, Seminara SB, Zirzow GC, Kaneski CR, Heiss JD, van der Knaap MS, Vanier MT, Schiffmann R, Wong K.

Neurology. 2006 Dec 12;67(11):2066-9.

8.

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
9.

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

Uhlenberg B, Schuelke M, Rüschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloğlu H, Nürnberg P, Hübner C, Weschke B, Gärtner J.

Am J Hum Genet. 2004 Aug;75(2):251-60. Epub 2004 Jun 10. Erratum in: Am J Hum Genet. 2004 Oct;5(4):737.

10.

Cerebellar white matter involvement in Salla disease.

Biancheri R, Rossi A, Mancini MG, Minetti C.

Neuroradiology. 2004 Jul;46(7):587-8. Epub 2004 Jun 4. No abstract available.

PMID:
15179531
11.

A case of Salla disease with involvement of the cerebellar white matter.

Linnankivi T, Lönnqvist T, Autti T.

Neuroradiology. 2003 Feb;45(2):107-9. Epub 2003 Jan 16.

PMID:
12592494
12.

New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum.

van der Knaap MS, Naidu S, Pouwels PJ, Bonavita S, van Coster R, Lagae L, Sperner J, Surtees R, Schiffmann R, Valk J.

AJNR Am J Neuroradiol. 2002 Oct;23(9):1466-74.

13.

Neurodegeneration in hereditary nucleotide repair disorders.

Itoh M, Hayashi M, Shioda K, Minagawa M, Isa F, Tamagawa K, Morimatsu Y, Oda M.

Brain Dev. 1999 Jul;21(5):326-33.

PMID:
10413020
14.

Brain involvement in Salla disease.

Sonninen P, Autti T, Varho T, Hämäläinen M, Raininko R.

AJNR Am J Neuroradiol. 1999 Mar;20(3):433-43.

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk