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Items: 1 to 20 of 29

1.

Repeated hyperhidrosis and chilblain-like swelling with ulceration of the fingers and toes in hereditary sensory and autonomic neuropathy type II.

Shima T, Yamamoto Y, Kanazawa N, Murata KY, Ito H, Kondo T, Yuan J, Hashiguchi A, Takashima H, Furukawa F.

J Dermatol. 2018 Apr 27. doi: 10.1111/1346-8138.14336. [Epub ahead of print] No abstract available.

PMID:
29701257
3.

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.

4.

Hereditary Sensory and Autonomic Neuropathy Type II.

Kurth I.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2010 Nov 23 [updated 2015 Feb 19].

5.

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
6.

[Hereditary sensory and autonomic neuropathy type II A: early neurological and skeletal findings].

Esmer C, Díaz Zambrano S, Santos Díaz MA, González Huerta LM, Cuevas Covarrubias SA, Bravo Oro A.

An Pediatr (Barc). 2014 Apr;80(4):254-8. doi: 10.1016/j.anpedi.2013.05.023. Epub 2013 Jul 3. Spanish.

7.

The kinesin-3, unc-104 regulates dendrite morphogenesis and synaptic development in Drosophila.

Kern JV, Zhang YV, Kramer S, Brenman JE, Rasse TM.

Genetics. 2013 Sep;195(1):59-72. doi: 10.1534/genetics.113.151639. Epub 2013 Jun 14.

8.

Extrarenal roles of the with-no-lysine[K] kinases (WNKs).

Siew K, O'Shaughnessy KM.

Clin Exp Pharmacol Physiol. 2013 Dec;40(12):885-94. doi: 10.1111/1440-1681.12108. Review.

PMID:
23662678
9.

WNK1/HSN2 mutation in human peripheral neuropathy deregulates KCC2 expression and posterior lateral line development in zebrafish (Danio rerio).

Bercier V, Brustein E, Liao M, Dion PA, Lafrenière RG, Rouleau GA, Drapeau P.

PLoS Genet. 2013;9(1):e1003124. doi: 10.1371/journal.pgen.1003124. Epub 2013 Jan 3.

10.

WNK1/HSN2 isoform and the regulation of KCC2 activity.

Bercier V.

Rare Dis. 2013 Sep 19;1:e26537. doi: 10.4161/rdis.26537. eCollection 2013.

11.

A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2.

Potulska-Chromik A, Kabzińska D, Lipowska M, Kostera-Pruszczyk A, Kochański A.

Acta Biochim Pol. 2012;59(3):413-5. Epub 2012 Aug 21.

12.

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.

13.

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
14.

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.

15.

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.

16.

Phosphoregulation of the Na-K-2Cl and K-Cl cotransporters by the WNK kinases.

Kahle KT, Rinehart J, Lifton RP.

Biochim Biophys Acta. 2010 Dec;1802(12):1150-8. doi: 10.1016/j.bbadis.2010.07.009. Epub 2010 Jul 15. Review.

17.

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
18.

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.

19.

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.

20.

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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