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Items: 1 to 20 of 95

1.

Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family.

Ilgaz Aydinlar E, Rolfs A, Serteser M, Parman Y.

Muscle Nerve. 2014 May;49(5):774-5. doi: 10.1002/mus.24145. No abstract available.

PMID:
24327336
2.

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
3.

Mutation in FAM134B causing severe hereditary sensory neuropathy.

Murphy SM, Davidson GL, Brandner S, Houlden H, Reilly MM.

J Neurol Neurosurg Psychiatry. 2012 Jan;83(1):119-20. doi: 10.1136/jnnp.2010.228965. Epub 2010 Nov 28. No abstract available.

4.

Hereditary motor and sensory neuropathy type II (HMSN-II) and neurogenic muscle hypertrophy: a case report and literature review.

Maurelli M, Candeloro E, Egitto MT, Alfonsi E.

Ital J Neurol Sci. 1998 Jun;19(3):184-8.

PMID:
10933475
5.

Plantar ulcers in hereditary sensory neuropathy. A plea for conservative treatment.

Berginer V, Baruchin A, Ben-Yakar Y, Mahler D.

Int J Dermatol. 1984 Dec;23(10):664-8.

PMID:
6597137
6.

Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population.

Tüysüz B, Bayrakli F, DiLuna ML, Bilguvar K, Bayri Y, Yalcinkaya C, Bursali A, Ozdamar E, Korkmaz B, Mason CE, Ozturk AK, Lifton RP, State MW, Gunel M.

Neurogenetics. 2008 May;9(2):119-25. doi: 10.1007/s10048-008-0121-9. Epub 2008 Mar 6.

PMID:
18322713
7.

[Hereditary sensory and autonomic neuropathy type 2: two cases report].

Sanvito WL, Cataldo BO, Costa AR.

Arq Neuropsiquiatr. 2003 Sep;61(3A):654-8. Epub 2003 Sep 16. Portuguese.

9.
10.

An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed.

Forman OP, Hitti RJ, Pettitt L, Jenkins CA, O'Brien DP, Shelton GD, De Risio L, Quintana RG, Beltran E, Mellersh C.

G3 (Bethesda). 2016 Sep 8;6(9):2687-92. doi: 10.1534/g3.116.027896.

11.

Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.

Bi H, Gao Y, Yao S, Dong M, Headley AP, Yuan Y.

Neuropathology. 2007 Oct;27(5):429-33.

PMID:
18018475
12.
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.

A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24.

Kok C, Kennerson ML, Spring PJ, Ing AJ, Pollard JD, Nicholson GA.

Am J Hum Genet. 2003 Sep;73(3):632-7. Epub 2003 Jul 17.

15.

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

Klebe S, Azzedine H, Durr A, Bastien P, Bouslam N, Elleuch N, Forlani S, Charon C, Koenig M, Melki J, Brice A, Stevanin G.

Brain. 2006 Jun;129(Pt 6):1456-62. Epub 2006 Jan 24.

PMID:
16434418
16.

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.

17.

Autosomal recessive peripheral sensory neuropathy in 3 non-Ashkenazi Jewish families.

Tamari I, Goodman RM, Sarova I, Hertz M, Adar R, Zvibach T.

J Med Genet. 1980 Dec;17(6):424-9.

18.

Oral and maxillofacial manifestations of hereditary sensory neuropathy.

Narayanan V.

Br J Oral Maxillofac Surg. 1996 Oct;34(5):446-9. Review.

PMID:
8909740
19.

Hereditary sensory neuropathy with macular dystrophy.

Tallman MS, Levy M.

South Med J. 1985 Mar;78(3):345-8.

PMID:
3856327
20.

Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene.

Rudnik-Schöneborn S, Hehr U, von Kalle T, Bornemann A, Winkler J, Zerres K.

Neuropediatrics. 2009 Jun;40(3):129-33. doi: 10.1055/s-0029-1234084. Epub 2009 Dec 17.

PMID:
20020398

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