Robert J Bryson-Richardson
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Explore the profile of Robert J Bryson-Richardson including associated specialties, affiliations and a list of published articles.
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59
Citations
5445
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Recent Articles
1.
Dofash L, Miles L, Saito Y, Rivas E, Calcinotto V, Oveissi S, et al.
Brain
. 2024 Nov;
PMID: 39531736
Rigid spine syndrome is a rare childhood-onset myopathy characterised by slowly progressive or non-progressive scoliosis, neck and spine contractures, hypotonia, and respiratory insufficiency. Biallelic variants in SELENON account for most...
2.
Miles L, Calcinotto V, Oveissi S, Serrano R, Sonntag C, Mulia O, et al.
Nat Commun
. 2024 Jun;
15(1):5011.
PMID: 38866742
Site-directed insertion is a powerful approach for generating mutant alleles, but low efficiency and the need for customisation for each target has limited its application. To overcome this, we developed...
3.
McKaige E, Lee C, Calcinotto V, Giri S, Crawford S, McGrath M, et al.
Hum Mol Genet
. 2024 Apr;
33(14):1195-1206.
PMID: 38621658
Mutations in DNAJB6 are a well-established cause of limb girdle muscular dystrophy type D1 (LGMD D1). Patients with LGMD D1 develop progressive muscle weakness with histology showing fibre damage, autophagic...
4.
Donkervoort S, van de Locht M, Ronchi D, Reunert J, McLean C, Zaki M, et al.
Sci Transl Med
. 2024 Apr;
16(741):eadg2841.
PMID: 38569017
Troponin I (TnI) regulates thin filament activation and muscle contraction. Two isoforms, TnI-fast () and TnI-slow (), are predominantly expressed in fast- and slow-twitch myofibers, respectively. variants are a rare...
5.
de Winter J, Molenaar J, Yuen M, van der Pijl R, Shen S, Conijn S, et al.
J Clin Invest
. 2024 Feb;
134(3).
PMID: 38299595
No abstract available.
6.
Fung C, Miles L, Bryson-Richardson R, Bird P
Methods Mol Biol
. 2023 Dec;
2750:19-32.
PMID: 38108964
The CRISPR-Cas9 genome editing system is used to induce mutations in genes of interest resulting in the loss of functional protein. A transgenic zebrafish α1-antitrypsin deficiency (AATD) model displays an...
7.
Serrano R, Oorschot V, Palipana D, Calcinotto V, Sonntag C, Ramm G, et al.
Brain Commun
. 2023 Dec;
5(6):fcad317.
PMID: 38046095
Variants in have been reported to cause neurological disease with impaired motor function, developmental delay, intellectual disability and brain pathology as recurrent clinical manifestations. encodes a ubiquitin-activating-like enzyme that activates...
8.
Terrill J, Huchet C, Le Guiner C, Lafoux A, Caudal D, Tulangekar A, et al.
Metabolites
. 2023 Feb;
13(2).
PMID: 36837851
Inflammation and oxidative stress are strongly implicated in the pathology of Duchenne muscular dystrophy (DMD), and the sulphur-containing amino acid taurine ameliorates both and decreases dystropathology in the mouse model...
9.
Fung C, Wilding B, Schittenhelm R, Bryson-Richardson R, Bird P
Int J Mol Sci
. 2023 Feb;
24(3).
PMID: 36768797
Individuals homozygous for the Pi*Z allele of SERPINA1 (ZAAT) are susceptible to lung disease due to insufficient α1-antitrypsin secretion into the circulation and may develop liver disease due to compromised...
10.
Serrano R, Lee C, Douek A, Kaslin J, Bryson-Richardson R, Sztal T
Dis Model Mech
. 2021 Dec;
15(3).
PMID: 34913468
Cyclin-dependent kinase-like-5 (CDKL5) deficiency disorder (CDD) is a severe X-linked neurodegenerative disease characterised by early-onset epileptic seizures, low muscle tone, progressive intellectual disability and severe motor function. CDD affects ∼1...