Martine Raynaud
Overview
Explore the profile of Martine Raynaud including associated specialties, affiliations and a list of published articles.
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Articles
53
Citations
2218
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Recent Articles
1.
Palmer E, Pusch M, Picollo A, Forwood C, Nguyen M, Suckow V, et al.
Mol Psychiatry
. 2022 Nov;
28(2):668-697.
PMID: 36385166
Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype...
2.
Aref-Eshghi E, Kerkhof J, Pedro V, France G, Barat-Houari M, Ruiz-Pallares N, et al.
Am J Hum Genet
. 2021 Jun;
108(6):1161-1163.
PMID: 34087165
No abstract available.
3.
Halewa J, Marouillat S, Dixneuf M, Thepault R, Ung D, Chatron N, et al.
Hum Mutat
. 2021 Apr;
42(7):848-861.
PMID: 33856728
The X-linked PTCHD1 gene, encoding a synaptic membrane protein, has been involved in neurodevelopmental disorders with the description of deleterious genomic microdeletions or truncating coding mutations. Missense variants were also...
4.
The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus
Piard J, Bereau M, XiangWei W, Wirth T, Amsallem D, Buisson L, et al.
Mov Disord
. 2020 May;
35(7):1224-1232.
PMID: 32369665
Background: Hemizygous mutations in GRIA3 encoding the GluA3 subunit of the amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor are known to be associated with neurodevelopmental disorders, including intellectual disability, hypotonia, an autism spectrum disorder,...
5.
Aref-Eshghi E, Kerkhof J, Pedro V, Barat-Houari M, Ruiz-Pallares N, Andrau J, et al.
Am J Hum Genet
. 2020 Feb;
106(3):356-370.
PMID: 32109418
Genetic syndromes frequently present with overlapping clinical features and inconclusive or ambiguous genetic findings which can confound accurate diagnosis and clinical management. An expanding number of genetic syndromes have been...
6.
Johnson B, Kumar R, Oishi S, Alexander S, Kasherman M, Vega M, et al.
Biol Psychiatry
. 2019 Aug;
87(2):100-112.
PMID: 31443933
Background: The X-chromosome gene USP9X encodes a deubiquitylating enzyme that has been associated with neurodevelopmental disorders primarily in female subjects. USP9X escapes X inactivation, and in female subjects de novo...
7.
Bacrot S, Monnot S, Haddad G, Barcia G, Rachid M, Boisson M, et al.
Prenat Diagn
. 2019 Feb;
39(5):388-393.
PMID: 30779209
No abstract available.
8.
Tastet J, Cuberos H, Vallee B, Toutain A, Raynaud M, Marouillat S, et al.
Neuroscience
. 2018 Dec;
399:199-210.
PMID: 30594563
LIMK2 is involved in neuronal functions by regulating actin dynamics. Different isoforms of LIMK2 are described in databanks. LIMK2a and LIMK2b are the most characterized. A few pieces of evidence...
9.
Vuillaume M, Moizard M, Rossignol S, Cottereau E, Vonwill S, Alessandri J, et al.
Hum Mutat
. 2018 Nov;
39(12):2110-2112.
PMID: 30447178
No abstract available.
10.
Frints S, Ozanturk A, Rodriguez Criado G, Grasshoff U, de Hoon B, Field M, et al.
Mol Psychiatry
. 2018 May;
24(11):1748-1768.
PMID: 29728705
RLIM, also known as RNF12, is an X-linked E3 ubiquitin ligase acting as a negative regulator of LIM-domain containing transcription factors and participates in X-chromosome inactivation (XCI) in mice. We...