|
1
|
Davidson G, Murphy S, Polke J, et al:
Frequency of mutations in the genes associated with hereditary
sensory and autonomic neuropathy in a UK cohort. J Neurol.
259:1673–1685. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Rotthier A, Baets J, De Vriendt E, et al:
Genes for hereditary sensory and autonomic neuropathies: a
genotype-phenotype correlation. Brain. 132:2699–2711. 2009.
View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Houlden H, King R, Blake J, et al:
Clinical, pathological and genetic characterization of hereditary
sensory and autonomic neuropathy type 1 (HSAN I). Brain.
129:411–425. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Auer-Grumbach M, Bode H, Pieber TR, et al:
Mutations at Ser331 in the HSN type I gene SPTLC1 are associated
with a distinct syndromic phenotype. Eur J Med Genet. 56:266–269.
2013. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Rotthier A, Penno A, Rautenstrauss B, et
al: Characterization of two mutations in the SPTLC1 subunit of
serine palmitoyltransferase associated with hereditary sensory and
autonomic neuropathy type I. Hum Mutat. 32:E2211–2225. 2011.
View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Huehne K, Zweier C, Raab K, et al: Novel
missense, insertion and deletion mutations in the neurotrophic
tyrosine kinase receptor type 1 gene (NTRK1) associated with
congenital insensitivity to pain with anhidrosis. Neuromuscul
Disord. 18:159–166. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Verhoeven K, Coen K, De Vriendt E, et al:
SPTLC1 mutation in twin sisters with hereditary sensory neuropathy
type I. Neurology. 62:1001–1002. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Dawkins JL, Hulme DJ, Brahmbhatt SB,
Auer-Grumbach M and Nicholson GA: Mutations in SPTLC1, encoding
serine palmitoyltransferase, long chain base subunit-1, cause
hereditary sensory neuropathy type I. Nat Genet. 27:309–312. 2001.
View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Bejaoui K, Wu C, Scheffler MD, et al:
SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nat
Genet. 27:261–262. 2001. View
Article : Google Scholar : PubMed/NCBI
|
|
10
|
Bi H, Gao Y, Yao S, Dong M, Headley AP and
Yuan Y: Hereditary sensory and autonomic neuropathy type I in a
Chinese family: British C133W mutation exists in the Chinese.
Neuropathology. 27:429–433. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Klein CJ, Wu Y, Kruckeberg KE, et al:
SPTLC1 and RAB7 mutation analysis in dominantly inherited and
idiopathic sensory neuropathies. J Neurol Neurosurg Psychiatry.
76:1022–1024. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Geraldes R, de Carvalho M, Santos-Bento M
and Nicholson G: Hereditary sensory neuropathy type 1 in a
Portuguese family-electrodiagnostic and autonomic nervous system
studies. J Neurol Sci. 227:35–38. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Rautenstrauss B, Neitzel B, Muench C, Haas
J, Holinski-Feder E and Abicht A: Late onset hereditary sensory
neuropathy type 1 (HSN1) caused by a novel p.C133R missense
mutation in SPTLC1. J Peripher Nerv Syst. 14:124–125. 2009.
|
|
14
|
Paternostro-Sluga T, Grim-Stieger M, Posch
M, et al: Reliability and validity of the Medical Research Council
(MRC) scale and a modified scale for testing muscle strength in
patients with radial palsy. J Rehabil Med. 40:665–671. 2008.
View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Birouk N, LeGuern E, Maisonobe T, et al:
X-linked Charcot-Marie-Tooth disease with connexin 32 mutations:
clinical and electrophysiologic study. Neurology. 50:1074–1082.
1998. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Choi BO, Kim J, Lee KL, Yu JS, Hwang JH
and Chung KW: Rapid diagnosis of CMT1A duplications and HNPP
deletions by multiplex microsatellite PCR. Mol Cells. 23:39–48.
2007.PubMed/NCBI
|
|
17
|
Lee SS, Lee HJ, Park JM, et al: Proximal
dominant hereditary motor and sensory neuropathy with proximal
dominance association with mutation in the TRK-fused gene. JAMA
Neurol. 70:607–615. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Tamura K, Peterson D, Peterson N, Stecher
G, Nei M and Kumar S: MEGA5: molecular evolutionary genetics
analysis using maximum likelihood, evolutionary distance, and
maximum parsimony methods. Mol Biol Evol. 28:2731–2739. 2011.
View Article : Google Scholar
|
|
19
|
Auer-Grumbach M, De Jonghe P, Verhoeven K,
et al: Autosomal dominant inherited neuropathies with prominent
sensory loss and mutilations: a review. Arch Neurol. 60:329–334.
2003. View Article : Google Scholar : PubMed/NCBI
|
