A Roubertie
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Explore the profile of A Roubertie including associated specialties, affiliations and a list of published articles.
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Articles
47
Citations
340
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Recent Articles
1.
Cif L, Cif L, Demailly D, Demailly D, Lin J, Lin J, et al.
ArXiv
. 2025 Feb;
PMID: 39990802
Heterozygous mutations in are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial...
2.
Hartmann A, Ansquer S, Brefel-Courbon C, Burbaud P, Castrioto A, Czernecki V, et al.
Rev Neurol (Paris)
. 2024 May;
180(8):818-827.
PMID: 38760282
The term "Gilles de la Tourette syndrome", or the more commonly used term "Tourette syndrome" (TS) refers to the association of motor and phonic tics which evolve in a context...
3.
Secco L, Coubes C, Meyer P, Chenine L, Roubertie A, Malinge M, et al.
Ann Dermatol Venereol
. 2022 May;
149(4):241-244.
PMID: 35527063
Background: Tuberous sclerosis complex (TSC) is a genetic disorder involving the TSC1 or TSC2 gene. Skin signs are prominent, but dermatological data are scarce. This study aims to describe the...
4.
Bah M, Rodriguez D, Cazeneuve C, Mochel F, Devos D, Suppiej A, et al.
Eur J Neurol
. 2020 Jun;
27(11):2267-2276.
PMID: 32558018
Background And Purpose: Childhood-onset autosomal dominant cerebellar ataxia type 7 (SCA7) is a severe disease which leads to premature loss of ambulation and death. Early diagnosis of SCA7 is of...
5.
Habarou F, Bahi-Buisson N, Lebigot E, Pontoizeau C, Abi-Warde M, Brassier A, et al.
JIMD Rep
. 2017 May;
38:53-59.
PMID: 28510035
Objective: Ketogenic diet is the first line therapy for neurological symptoms associated with pyruvate dehydrogenase deficiency (PDHD) and intractable seizures in a number of disorders, including GLUT1 deficiency syndrome (GLUT1-DS)....
6.
Grassin M, Rolland A, Leboucq N, Roubertie A, Rivier F, Meyer P
Arch Pediatr
. 2017 Apr;
24(6):564-567.
PMID: 28416425
Bilateral facial nerve palsy is a rare and sometimes difficult diagnosis. We describe a case of bilateral simultaneous facial nerve palsy associated with Epstein-Barr virus (EBV) infection in a 3-year-old...
7.
Spitz M, Nguyen M, Roche S, Heron B, Milh M, de Lonlay P, et al.
JIMD Rep
. 2016 May;
31:85-93.
PMID: 27147232
Patients And Methods: We present a retrospective descriptive multicentric study concerning ten French children with a biochemical and molecular confirmed diagnosis of AADC deficiency. Results: Clinical presentation of most of...
8.
Benureau A, Meyer P, Maillet O, Leboucq N, Legras S, Jeziorski E, et al.
Arch Pediatr
. 2014 Oct;
21(12):1370-4.
PMID: 25282463
Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE) is a rare autosomal-recessive syndrome, resulting from mutations in the TYMP gene, located at 22q13. The mutation induces a thymidine phosphorylase (TP) deficit, which leads...
9.
Meyer P, Leboucq N, Molinari N, Roubertie A, Carneiro M, Walther-Louvier U, et al.
Mult Scler
. 2014 Mar;
20(11):1485-93.
PMID: 24619933
Background: Acute transverse myelitis (ATM) in children is a rare and often severe disease for which there are few known prognostic factors, particularly the subsequent risk of multiple sclerosis (MS)...
10.
Roubertie A, Mariani L, Fernandez-Alvarez E, Doummar D, Roze E
Eur J Neurol
. 2012 Feb;
19(10):1292-9.
PMID: 22289078
Management of childhood dystonia differs in certain respects from that of adult dystonia: (i) childhood dystonia is more often secondary than primary; (ii) mixed motor disorders are frequent; (iii) in...