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Items: 1 to 20 of 103

1.

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.

2.

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.

3.

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
4.

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
5.

The evaluation of autonomic nervous function in a patient with hereditary sensory and autonomic neuropathy type IV with novel mutations of the TRKA gene.

Ohto T, Iwasaki N, Fujiwara J, Ohkoshi N, Kimura S, Kawade K, Tanaka R, Matsui A.

Neuropediatrics. 2004 Oct;35(5):274-8.

PMID:
15534759
6.

[A familial case with hereditary pressure-sensitive neuropathy, with "tomacula"--the first case in Japan].

Minauchi Y, Kohka M, Igata A, Ohkatsu Y.

Rinsho Shinkeigaku. 1982 Oct;22(10):918-25. Japanese. No abstract available.

PMID:
6963557
7.

Hereditary sensory neuropathies.

Houlden H, Blake J, Reilly MM.

Curr Opin Neurol. 2004 Oct;17(5):569-77. Review.

PMID:
15367861
8.

Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation.

Yuan J, Matsuura E, Higuchi Y, Hashiguchi A, Nakamura T, Nozuma S, Sakiyama Y, Yoshimura A, Izumo S, Takashima H.

Neurology. 2013 Apr 30;80(18):1641-9. doi: 10.1212/WNL.0b013e3182904fdd. Epub 2013 Apr 17.

PMID:
23596073
9.

A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V.

Houlden H, King RH, Hashemi-Nejad A, Wood NW, Mathias CJ, Reilly M, Thomas PK.

Ann Neurol. 2001 Apr;49(4):521-5.

PMID:
11310631
10.

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.

11.

Hereditary sensory neuropathies.

Thomas PK.

Brain Pathol. 1993 Apr;3(2):157-63. Review.

PMID:
8293177
12.

New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2.

Takagi M, Ozawa T, Hara K, Naruse S, Ishihara T, Shimbo J, Igarashi S, Tanaka K, Onodera O, Nishizawa M.

Neurology. 2006 Apr 25;66(8):1251-2.

PMID:
16636245
13.

Disease mechanisms in inherited neuropathies.

Suter U, Scherer SS.

Nat Rev Neurosci. 2003 Sep;4(9):714-26. Review. No abstract available.

PMID:
12951564
14.

Charcot-Marie-Tooth disease (hereditary motor sensory neuropathies) and hereditary sensory and autonomic neuropathies.

Bertorini T, Narayanaswami P, Rashed H.

Neurologist. 2004 Nov;10(6):327-37. Review.

PMID:
15518599
15.

Recent advances in hereditary sensory and autonomic neuropathies.

Verhoeven K, Timmerman V, Mauko B, Pieber TR, De Jonghe P, Auer-Grumbach M.

Curr Opin Neurol. 2006 Oct;19(5):474-80. Review.

PMID:
16969157
16.

A novel RAB7 mutation associated with ulcero-mutilating neuropathy.

Houlden H, King RH, Muddle JR, Warner TT, Reilly MM, Orrell RW, Ginsberg L.

Ann Neurol. 2004 Oct;56(4):586-90.

PMID:
15455439
17.

Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study.

Minde J, Toolanen G, Andersson T, Nennesmo I, Remahl IN, Svensson O, Solders G.

Muscle Nerve. 2004 Dec;30(6):752-60.

PMID:
15468048
19.

Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV)

Rosemberg S, Marie SK, Kliemann S.

Pediatr Neurol. 1994 Jul;11(1):50-6. Review.

PMID:
7527213
20.

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P, Timmerman V.

Brain. 2009 Oct;132(Pt 10):2699-711. doi: 10.1093/brain/awp198. Epub 2009 Aug 3.

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