Bernard Echenne
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Explore the profile of Bernard Echenne including associated specialties, affiliations and a list of published articles.
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44
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1050
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Recent Articles
1.
Humbertclaude V, Riant F, Krams B, Zimmermann V, Nagot N, Annequin D, et al.
Dev Med Child Neurol
. 2019 May;
62(3):330-337.
PMID: 31115040
Aim: To describe the clinico-radiological phenotype of children with a CACNA1A mutation and to precisely evaluate their learning ability and cognitive status. Method: Children between the ages of 3 and...
2.
Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, et al.
J Med Genet
. 2018 Apr;
55(6):359-371.
PMID: 29618507
The Xq28 duplication involving the gene ( duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, only...
3.
Roubertie A, Hieu N, Roux C, Leboucq N, Manes G, Charif M, et al.
Neurol Genet
. 2018 Feb;
4(1):e217.
PMID: 29473051
Objective: To describe the clinico-radiological phenotype of 3 patients harboring a homozygous novel pathogenic mutation. Methods: The 3 patients from an inbred family who exhibited early-onset developmental delay, tetraparesis, juvenile...
4.
Schiff M, Roda C, Monin M, Arion A, Barth M, Bednarek N, et al.
J Med Genet
. 2017 Sep;
54(12):843-851.
PMID: 28954837
Background: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a multisystem inborn error of metabolism. Objectives: To better characterise the natural history of PMM2-CDG. Methods: Medical charts of 96 patients with...
5.
Farmer M, Echenne B, Drouin R, Bentourkia M
Curr Pediatr Rev
. 2017 Jul;
13(2):111-119.
PMID: 28745216
Background: Developmental Coordination Disorder (DCD) is a neurological impairment occurring in nearly 6% of general population, and sometimes mimics other developmental disorders like Attention Deficit Hyperactivity Disorder (ADHD) or, in...
6.
Farmer M, Echenne B, Bentourkia M
Brain Dev
. 2016 Jan;
38(6):538-47.
PMID: 26763621
Background: Developmental Coordination Disorder (DCD) is a chronic neurological disorder observed in children. DCD is characterized by slowness in activities and motor impairment that affects the children's daily living and...
7.
Habbout K, Poulin H, Rivier F, Giuliano S, Sternberg D, Fontaine B, et al.
Neurology
. 2015 Dec;
86(2):161-9.
PMID: 26659129
Objective: To determine the molecular basis of a complex phenotype of congenital muscle weakness observed in an isolated but consanguineous patient. Methods: The proband was evaluated clinically and neurophysiologically over...
8.
El Chehadeh S, Faivre L, Mosca-Boidron A, Malan V, Amiel J, Nizon M, et al.
Am J Med Genet A
. 2015 Oct;
170A(1):116-29.
PMID: 26420639
Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability, stereotyped movements, and recurrent pulmonary infections. We...
9.
Bauer M, Kolsch U, Kruger R, Unterwalder N, Hameister K, Kaiser F, et al.
J Clin Immunol
. 2015 Feb;
35(2):168-81.
PMID: 25721700
MECP2 (methyl CpG binding protein 2) duplication causes syndromic intellectual disability. Patients often suffer from life-threatening infections, suggesting an additional immunodeficiency. We describe for the first time the detailed infectious...
10.
Delcourt M, Riant F, Mancini J, Milh M, Navarro V, Roze E, et al.
J Neurol Neurosurg Psychiatry
. 2015 Jan;
86(7):782-5.
PMID: 25595153
Background: Heterozygous dominant mutations of PRRT2 have been associated with various types of paroxysmal neurological manifestations, including benign familial infantile convulsions and paroxysmal kinesigenic dyskinesia. The phenotype associated with biallelic...