Guy Brochier
Overview
Explore the profile of Guy Brochier 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
32
Citations
507
Followers
0
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Hentschel A, Lacene E, Brochier G, Boisserie J, Fromes Y, Romero N, et al.
J Neuromuscul Dis
. 2025 Mar;
:22143602241296248.
PMID: 40033989
Background: Glycogenosis type 11 or deficiency in lactate dehydrogenase A (LDHA) (OMIM: 612933) is an ultra-rare condition of perturbed glycogen metabolism, first described in 1980 in a Japanese patient, and...
2.
Bui M, Fernandez-Eulate G, Evangelista T, Lacene E, Brochier G, Labasse C, et al.
Acta Neuropathol Commun
. 2024 Dec;
12(1):191.
PMID: 39707553
Neuromuscular disorders (NMD) with neonatal or early infantile onset are usually severe and differ in symptoms, complications, and treatment options. The establishment of a diagnosis relies on the combination of...
3.
Boluda S, Mokhtari K, Megarbane B, Annane D, Mathon B, Cao A, et al.
Free Neuropathol
. 2023 Jun;
4.
PMID: 37283933
In a neuropathological series of 20 COVID-19 cases, we analyzed six cases (three biopsies and three autopsies) with multiple foci predominantly affecting the white matter as shown by MRI. The...
4.
Labasse C, Brochier G, Taratuto A, Cadot B, Rendu J, Monges S, et al.
Acta Neuropathol Commun
. 2022 Jul;
10(1):101.
PMID: 35810298
Nemaline myopathy (NM) is a muscle disorder with broad clinical and genetic heterogeneity. The clinical presentation of affected individuals ranges from severe perinatal muscle weakness to milder childhood-onset forms, and...
5.
Bevilacqua J, Contreras J, Trangulao A, Hernandez U, Brochier G, Diaz J, et al.
Neuromuscul Disord
. 2022 Jun;
32(8):687-691.
PMID: 35688744
Tropomyosin 3 (TPM3) gene mutations associate with autosomal dominant and recessive nemaline myopathy 1 (NEM1), congenital fiber type disproportion myopathy (CFTD) and cap myopathy (CAPM1), and a combination of caps...
6.
Bevilacqua J, Malfatti E, Labasse C, Brochier G, Madelaine A, Lacene E, et al.
J Neuropathol Exp Neurol
. 2022 Feb;
81(4):304-307.
PMID: 35139532
No abstract available.
7.
Etienne H, Gonzalez-Bermejo J, Dres M, Maisonobe T, Brochier G, Wingertsmann L, et al.
Ann Anat
. 2021 Sep;
239:151835.
PMID: 34562604
Background: Diaphragm pacing allows certain ventilator-dependent patients to achieve weaning from mechanical ventilation. The reference method consists in implanting intrathoracic contact electrodes around the phrenic nerve during video-assisted thoracic surgery,...
8.
Bouman K, Kusters B, de Winter J, Gillet C, van Kleef E, Eshuis L, et al.
J Neuropathol Exp Neurol
. 2021 Mar;
80(4):366-376.
PMID: 33693846
Nemaline myopathy type 6 (NEM6), KBTBD13-related congenital myopathy is caused by mutated KBTBD13 protein that interacts improperly with thin filaments/actin, provoking impaired muscle-relaxation kinetics. We describe muscle morphology in 18...
9.
Evangelista T, Lornage X, Carlier P, Bassez G, Brochier G, Chanut A, et al.
J Neuropathol Exp Neurol
. 2020 Jul;
79(8):908-914.
PMID: 32607581
Autosomal dominant pathogenic variants in the filamin C gene (FLNC) have been associated with myofibrillar myopathies, distal myopathies, and isolated cardiomyopathies. Mutations in different functional domains of FLNC can cause...
10.
Echaniz-Laguna A, Lornage X, Laforet P, Orngreen M, Edelweiss E, Brochier G, et al.
Ann Neurol
. 2020 May;
88(2):274-282.
PMID: 32386344
Objective: Glycogen storage diseases (GSDs) are severe human disorders resulting from abnormal glucose metabolism, and all previously described GSDs segregate as autosomal recessive or X-linked traits. In this study, we...