Stephanie Tome
Overview
Explore the profile of Stephanie Tome including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
19
Citations
485
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
2.
Tsai Y, de Pontual L, Heiner C, Stojkovic T, Furling D, Bassez G, et al.
J Mol Diagn
. 2022 Sep;
24(11):1143-1154.
PMID: 36084803
Myotonic dystrophy type 1 (DM1) exhibits highly heterogeneous clinical manifestations caused by an unstable CTG repeat expansion reaching up to 4000 CTG. The clinical variability depends on CTG repeat number,...
3.
de Pontual L, Tome S
Int J Mol Sci
. 2022 Apr;
23(7).
PMID: 35408837
Among the trinucleotide repeat disorders, myotonic dystrophy type 1 (DM1) is one of the most complex neuromuscular diseases caused by an unstable CTG repeat expansion in the gene. DM1 patients...
4.
de Pontual L, Gourdon G, Tome S
Med Sci (Paris)
. 2021 Dec;
37 Hors série n° 1:6-10.
PMID: 34878385
Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disease caused by an abnormal CTG repeat expansion in the 3'UTR region of the DMPK gene. In patients, the CTG repeat...
5.
Mangin A, de Pontual L, Tsai Y, Monteil L, Nizon M, Boisseau P, et al.
Int J Mol Sci
. 2021 Apr;
22(5).
PMID: 33807660
Myotonic dystrophy type 1 (DM1) is the most complex and variable trinucleotide repeat disorder caused by an unstable CTG repeat expansion, reaching up to 4000 CTG in the most severe...
6.
Tome S, Gourdon G
Int J Mol Sci
. 2020 Jan;
21(2).
PMID: 31936870
Myotonic dystrophy type 1 (DM1) is a complex neuromuscular disease caused by an unstable cardiotocography (CTG) repeat expansion in the gene. This disease is characterized by high clinical and genetic...
7.
Tome S, Gourdon G
Methods Mol Biol
. 2019 Oct;
2056:11-23.
PMID: 31586339
Different interrupted repeat expansions have been found in several trinucleotide repeat (TNR) diseases such as fragile X syndrome (FXS), spinocerebellar ataxias (SCAs), and myotonic dystrophies (DMs). Their origins and roles...
8.
Lo Scrudato M, Poulard K, Sourd C, Tome S, Klein A, Corre G, et al.
Mol Ther
. 2019 Jun;
27(8):1372-1388.
PMID: 31253581
Myotonic dystrophy type 1 (DM1) is caused by a CTG repeat expansion located in the 3' UTR of the DMPK gene. Expanded DMPK transcripts aggregate into nuclear foci and alter...
9.
Tome S, Dandelot E, Dogan C, Bertrand A, Genevieve D, Pereon Y, et al.
Hum Mutat
. 2018 Apr;
39(7):970-982.
PMID: 29664219
Myotonic dystrophy type 1 (DM1) is a dominant multisystemic disorder associated with high variability of symptoms and anticipation. DM1 is caused by an unstable CTG repeat expansion that usually increases...
10.
Barbe L, Lanni S, Lopez-Castel A, Franck S, Spits C, Keymolen K, et al.
Am J Hum Genet
. 2017 Mar;
100(3):488-505.
PMID: 28257691
CTG repeat expansions in DMPK cause myotonic dystrophy (DM1) with a continuum of severity and ages of onset. Congenital DM1 (CDM1), the most severe form, presents distinct clinical features, large...