S B Melancon
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Explore the profile of S B Melancon including associated specialties, affiliations and a list of published articles.
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94
Citations
915
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Recent Articles
1.
Kaminska M, Noel F, Genge A, Melancon S, Pshezhetsky A, Petrof B
J Neuromuscul Dis
. 2016 Nov;
2(s1):S44.
PMID: 27858638
No abstract available.
2.
Engert J, Berube P, Mercier J, Dore C, Lepage P, Ge B, et al.
Nat Genet
. 2000 Feb;
24(2):120-5.
PMID: 10655055
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS or SACS) is an early onset neurodegenerative disease with high prevalence (carrier frequency 1/22) in the Charlevoix-Saguenay-Lac-Saint-Jean (CSLSJ) region of Quebec. We previously...
3.
Engert J, Dore C, Mercier J, Ge B, Betard C, Rioux J, et al.
Genomics
. 1999 Dec;
62(2):156-64.
PMID: 10610707
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS or SACS) is a neurodegenerative disease frequent in northeastern Québec. In a previous study, we localized the disease gene to chromosome region 13q11...
4.
Lemyre E, Russo P, Melancon S, Gagne R, Potier M, Lambert M
Am J Med Genet
. 1999 Mar;
82(5):385-91.
PMID: 10069709
Infantile free sialic acid storage disease (ISSD) is a rare autosomal recessive metabolic disorder caused by a lysosomal membrane transport defect, resulting in accumulation of free sialic acid within lysosomes....
5.
Richter A, Rioux J, Bouchard J, Mercier J, Mathieu J, Ge B, et al.
Am J Hum Genet
. 1999 Mar;
64(3):768-75.
PMID: 10053011
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a clinically homogeneous form of early-onset familial spastic ataxia with prominent myelinated retinal nerve fibers. More than 300 patients have been identified,...
6.
Bouchard J, Richter A, Mathieu J, Brunet D, Hudson T, Morgan K, et al.
Neuromuscul Disord
. 1998 Nov;
8(7):474-9.
PMID: 9829277
A form of autosomal recessive spastic ataxia unique to the Charlevoix-Saguenay area was clinically identified 20 years ago in patients from that region. This region of Québec, Canada, was once...
7.
Gacy A, Goellner G, Spiro C, Chen X, Gupta G, Bradbury E, et al.
Mol Cell
. 1998 Jul;
1(4):583-93.
PMID: 9660942
We show that GAA instability in Friedreich's Ataxia is a DNA-directed mutation caused by improper DNA structure at the repeat region. Unlike CAG or CGG repeats, which form hairpins, GAA...
8.
Montermini L, Richter A, Morgan K, Justice C, Julien D, Castellotti B, et al.
Ann Neurol
. 1997 May;
41(5):675-82.
PMID: 9153531
We studied genotype-phenotype correlations in a group of 100 patients with typical Friedreich ataxia (FRDA), and in three groups of patients with atypical clinical presentations, including 44 Acadian FRDA, 8...
9.
Richter A, Poirier J, Mercier J, Julien D, Morgan K, Roy M, et al.
Am J Med Genet
. 1996 Sep;
64(4):594-601.
PMID: 8870928
The gene for Friedreich ataxia (FRDA), an autosomal-recessive neurodegenerative disease, remains elusive. The current candidate region of about 150 kb lies between loci FR2 and F8101 near the D9S15/D9S5 linkage...
10.
Hunter T, Melancon S, DALLAIRE L, Taft S, Skopek T, Albertini R, et al.
Somat Cell Mol Genet
. 1996 Mar;
22(2):145-50.
PMID: 8782493
We have used peripheral blood T-lymphocyte cultures to analyze the hprt mutation in two Lesch-Nyhan syndrome males who are cousins and to confirm the carrier status of female members of...