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Items: 11

2.

Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.

Citterio A, Arnoldi A, Panzeri E, Merlini L, D'Angelo MG, Musumeci O, Toscano A, Bondi A, Martinuzzi A, Bresolin N, Bassi MT.

J Neurol. 2015 Dec;262(12):2684-90. doi: 10.1007/s00415-015-7899-9. Epub 2015 Sep 26.

3.

Pediatric neuropathic arthropathy initially masquerading as inflammatory arthritis.

Zei MG, Meyers AB, Vora S.

J Clin Rheumatol. 2014 Oct;20(7):383-5. doi: 10.1097/RHU.0000000000000122.

PMID:
25275767
4.

A new methodology for quantification of alternatively spliced exons reveals a highly tissue-specific expression pattern of WNK1 isoforms.

Vidal-Petiot E, Cheval L, Faugeroux J, Malard T, Doucet A, Jeunemaitre X, Hadchouel J.

PLoS One. 2012;7(5):e37751. doi: 10.1371/journal.pone.0037751. Epub 2012 May 31.

5.

Hereditary sensory and autonomic neuropathy with autonomic crises: a Turkish variant of familial dysautonomia?

Koy A, Freynhagen R, Mayatepek E, Tibussek D.

J Child Neurol. 2012 Feb;27(2):191-6. doi: 10.1177/0883073811416664. Epub 2011 Dec 2.

PMID:
22140130
6.

KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

Rivière JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Masson AM, Baets J, Houlden H, Brais B, Nicholson GA, Van Esch H, Nafissi S, De Jonghe P, Reilly MM, Timmerman V, Dion PA, Rouleau GA.

Am J Hum Genet. 2011 Aug 12;89(2):219-30. doi: 10.1016/j.ajhg.2011.06.013. Epub 2011 Aug 4.

7.

The WNKs: atypical protein kinases with pleiotropic actions.

McCormick JA, Ellison DH.

Physiol Rev. 2011 Jan;91(1):177-219. doi: 10.1152/physrev.00017.2010. Review.

8.

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.

Kurth I, Pamminger T, Hennings JC, Soehendra D, Huebner AK, Rotthier A, Baets J, Senderek J, Topaloglu H, Farrell SA, Nürnberg G, Nürnberg P, De Jonghe P, Gal A, Kaether C, Timmerman V, Hübner CA.

Nat Genet. 2009 Nov;41(11):1179-81. doi: 10.1038/ng.464. Epub 2009 Oct 18.

PMID:
19838196
9.

Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli.

Loggia ML, Bushnell MC, Tétreault M, Thiffault I, Bhérer C, Mohammed NK, Kuchinad AA, Laferrière A, Dicaire MJ, Loisel L, Mogil JS, Brais B.

J Neurosci. 2009 Feb 18;29(7):2162-6. doi: 10.1523/JNEUROSCI.4633-08.2009.

10.

Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.

Shekarabi M, Girard N, Rivière JB, Dion P, Houle M, Toulouse A, Lafrenière RG, Vercauteren F, Hince P, Laganiere J, Rochefort D, Faivre L, Samuels M, Rouleau GA.

J Clin Invest. 2008 Jul;118(7):2496-505. doi: 10.1172/JCI34088.

11.

Treatment of life-threatening self-injurious behavior secondary to hereditary sensory and autonomic neuropathy type II: a controlled case study.

Kuhn D, Hagopian L, Terlonge C.

J Child Neurol. 2008 Apr;23(4):381-8. doi: 10.1177/0883073807309236. Epub 2008 Jan 9.

PMID:
18184934

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