Genetic pain loss disorders
A Lischka, P Lassuthova, A Çakar, CJ Record… - Nature Reviews …, 2022 - nature.com
Genetic pain loss includes congenital insensitivity to pain (CIP), hereditary sensory
neuropathies and, if autonomic nerves are involved, hereditary sensory and autonomic …
neuropathies and, if autonomic nerves are involved, hereditary sensory and autonomic …
Epidemiological and cohort study finds no association between COVID-19 and Guillain-Barré syndrome
S Keddie, J Pakpoor, C Mousele, M Pipis, PM Machado… - Brain, 2021 - academic.oup.com
Abstract Reports of Guillain-Barré syndrome (GBS) have emerged during the Coronavirus
disease 2019 (COVID-19) pandemic. This epidemiological and cohort study sought to …
disease 2019 (COVID-19) pandemic. This epidemiological and cohort study sought to …
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants
CJ Record, M Skorupinska, M Laura, AM Rossor… - Brain, 2023 - academic.oup.com
Abstract Charcot-Marie-Tooth disease (CMT) due to GJB1 variants (CMTX1) is the second
most common form of CMT. It is an X-linked disorder characterized by progressive sensory …
most common form of CMT. It is an X-linked disorder characterized by progressive sensory …
[HTML][HTML] Structural comparison of human mammalian ste20-like kinases
CJ Record, A Chaikuad, P Rellos, S Das, ACW Pike… - PloS one, 2010 - journals.plos.org
Background The serine/threonine mammalian Ste-20 like kinases (MSTs) are key regulators
of apoptosis, cellular proliferation as well as polarization. Deregulation of MSTs has been …
of apoptosis, cellular proliferation as well as polarization. Deregulation of MSTs has been …
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
A Lischka, K Eggermann, CJ Record, MF Dohrn… - Brain, 2023 - academic.oup.com
Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies
(HSAN) are clinically and genetically heterogeneous disorders exclusively or predominantly …
(HSAN) are clinically and genetically heterogeneous disorders exclusively or predominantly …
Synthesis and spectroscopic study of d–f hybrid lanthanide complexes derived from triazolylDO3A
M Tropiano, CJ Record, E Morris, HS Rai… - …, 2012 - ACS Publications
Lanthanide complexes of triazolylDO3A have been used to prepare bimetallic d–f hybrid
complexes in which the triazolyl pendant arm coordinates to both the lanthanide and a …
complexes in which the triazolyl pendant arm coordinates to both the lanthanide and a …
Neuromuscular disease genetics in under-represented populations: increasing data diversity
LA Wilson, WL Macken, LD Perry, CJ Record… - Brain, 2023 - academic.oup.com
Neuromuscular diseases (NMDs) affect∼ 15 million people globally. In high income settings
DNA-based diagnosis has transformed care pathways and led to gene-specific therapies …
DNA-based diagnosis has transformed care pathways and led to gene-specific therapies …
[HTML][HTML] The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia
AC Mahungu, E Steyn, N Floudiotis, LA Wilson… - Frontiers in …, 2023 - frontiersin.org
Introduction Limited diagnostics are available for inherited neuromuscular diseases (NMD)
in South Africa and (excluding muscle disease) are mainly aimed at the most frequent genes …
in South Africa and (excluding muscle disease) are mainly aimed at the most frequent genes …
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease
CJ Record, M Pipis, M Skorupinska, J Blake, R Poh… - Brain, 2024 - academic.oup.com
Abstract Charcot-Marie-Tooth disease (CMT) is one of the most common and genetically
heterogeneous inherited neurological diseases, with more than 130 disease-causing genes …
heterogeneous inherited neurological diseases, with more than 130 disease-causing genes …
Severe distinct dysautonomia in RFC1‐related disease associated with Parkinsonism
CJ Record, RA Alsukhni, R Curro… - Journal of the …, 2022 - Wiley Online Library
Biallelic repeat expansions in replication factor C subunit 1 (RFC1) have recently been
found to cause cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) …
found to cause cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) …