Jonathan Baets
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View article: Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy Open
Charcot-Marie-Tooth Disease is a clinically and genetically heterogeneous group of hereditary neuropathies. Despite progress in genetic sequencing, around a quarter of patients remain unsolved. Here, we identify 16 recessive variants in th…
View article: Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties
Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties Open
View article: Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy Open
VCP-MSP muscle biopsies consistently show myopathic or mixed patterns with rimmed vacuoles and p62/VCP-positive inclusions, regardless of clinical phenotype, age, or progression. Some lack vacuoles, challenging diagnosis. Discrepancies bet…
View article: Ageing Signatures and Disturbed Muscle Regeneration in Muscle Proteome of Inclusion Body Myositis
Ageing Signatures and Disturbed Muscle Regeneration in Muscle Proteome of Inclusion Body Myositis Open
Background Inclusion body myositis (IBM) is the most common acquired myopathy in adults over the age of 50 years, characterised by inflammatory and degenerative features that lead to progressive muscle weakness and physical disability for …
View article: Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study
Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study Open
Background: Centronuclear myopathies represent a subset of debilitating genetic disorders, for which no treatment exists. The Unite-CNM trial (NCT04033159) aimed to assess the effect of an antisense oligonucleotide to reduce DNM2 mRNA expr…
View article: Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing Open
Solve-RD is a pan-European rare disease (RD) research program that aims to identify disease-causing genetic variants in previously undiagnosed RD families. We utilized 10-fold coverage HiFi long-read sequencing (LRS) for detecting causativ…
View article: Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features Open
Background Neurogenetic disorders caused by pathogenic variants in four genes encoding non-erythrocytic spectrins ( SPTAN1, SPTBN1, SPTBN2, SPTBN4) range from peripheral and central nervous system involvement to complex syndromic presentat…
View article: Biallelic variants in<i>ARHGAP19</i>cause a motor-predominant neuropathy with asymmetry and conduction slowing
Biallelic variants in<i>ARHGAP19</i>cause a motor-predominant neuropathy with asymmetry and conduction slowing Open
Charcot-Marie-Tooth Disease is a clinically and genetically heterogeneous group of hereditary neuropathies, with over 100 causative genes identified to date. Despite progress in genetic sequencing, around a quarter of patients remain unsol…
View article: Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing Open
Solve-RD is a pan-European rare disease (RD) research program that aims to identify disease-causing genetic variants in previously undiagnosed RD families. We utilised 10-fold coverage HiFi long-read sequencing (LRS) for detecting causativ…
View article: A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A Open
Background Caused by duplications of the gene encoding peripheral myelin protein 22 (PMP22), Charcot–Marie–Tooth disease type 1A (CMT1A) is the most common hereditary neuropathy. Despite this shared genetic origin, there is considerable va…
View article: Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis
Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis Open
View article: Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients Open
Biallelic loss of SPG11 function constitutes the most frequent cause of complicated autosomal recessive hereditary spastic paraplegia (HSP) with thin corpus callosum, resulting in progressive multisystem neurodegeneration. While the impact…
View article: Dominant <i>NARS1</i> mutations causing axonal Charcot–Marie–Tooth disease expand <i>NARS1</i>-associated diseases
Dominant <i>NARS1</i> mutations causing axonal Charcot–Marie–Tooth disease expand <i>NARS1</i>-associated diseases Open
Pathogenic variants in six aminoacyl-tRNA synthetase (ARS) genes are implicated in neurological disorders, most notably inherited peripheral neuropathies. ARSs are enzymes that charge tRNA molecules with cognate amino acids. Pathogenic var…
View article: Psychological Care Through Mindfulness Meditation in Virtual Reality for Individuals with Amyotrophic Lateral Sclerosis: Effects on Cognition, Behavior, Quality of Life, and Psychological Well-Being: Protocol for a Randomized Control Trial
Psychological Care Through Mindfulness Meditation in Virtual Reality for Individuals with Amyotrophic Lateral Sclerosis: Effects on Cognition, Behavior, Quality of Life, and Psychological Well-Being: Protocol for a Randomized Control Trial Open
View article: Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix–Saguenay
Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix–Saguenay Open
Autosomal recessive spastic ataxia of Charlevoix–Saguenay is a rare neurodegenerative disease caused by biallelic variants in the SACS gene encoding for sacsin. More than 200 pathogenic variants have been identified to date, most of which …
View article: Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies Open
Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders exclusively or predominantly affecting the sensory and autonomic neurons. Due to the rar…
View article: Issue Information
Issue Information Open
Wiley is a founding member of the UN-backed HINARI, AGORA, and OARE initiatives.They are now collectively known as Research4Life, making online scientific content available free or at nominal cost to researchers in developing countries.
View article: Myelin protein zero mutation‐related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort
Myelin protein zero mutation‐related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort Open
Myelin protein zero (MPZ/P0) is a major structural protein of peripheral nerve myelin. Disease‐associated variants in the MPZ gene cause a wide phenotypic spectrum of inherited peripheral neuropathies. Previous nerve biopsy studies showed …
View article: Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients Open
Objective The Scale for the Assessment and Rating of Ataxia (SARA) is the most widely applied clinical outcome assessment (COA) for genetic ataxias, but presents metrological and regulatory challenges. To facilitate trial planning, we char…
View article: Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients Open
© 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-…
View article: C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD Open
Neuronal TDP-43-positive inclusions are neuropathological hallmark lesions in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Pathogenic missense variants in TARDBP , the gene encoding TDP-43, can cause ALS and clust…
View article: HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies
HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies Open
Chaperone-assisted selective autophagy (CASA) is a highly selective pathway for the disposal of misfolding and aggregating proteins. In muscle, CASA assures muscle integrity by favoring the turnover of structural components damaged by mech…
View article: A retrospective survey of patients with hereditary transthyretin-mediated (hATTR) amyloidosis treated with patisiran in real-world clinical practice in Belgium
A retrospective survey of patients with hereditary transthyretin-mediated (hATTR) amyloidosis treated with patisiran in real-world clinical practice in Belgium Open
View article: Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A
Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A Open
Charcot–Marie–Tooth disease is the most common inherited disorder of the PNS. CMT1A accounts for 40–50% of all cases and is caused by a duplication of the PMP22 gene on chromosome 17, leading to dysmyelination in the PNS. Patient-derived m…
View article: HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling Open
View article: Capturing clinical progression in multisystemic genetic ataxias: lessons from a prospective study of 884 patients with autosomal recessive or early-onset ataxia
Capturing clinical progression in multisystemic genetic ataxias: lessons from a prospective study of 884 patients with autosomal recessive or early-onset ataxia Open
Objective The Scale for the Assessment and Rating of Ataxia (SARA) is the most widely applied clinical outcome assessment (COA) for genetic ataxias, but presents metrological and regulatory challenges. To facilitate trial planning, we char…
View article: Commentary: SPTBN5, encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures
Commentary: SPTBN5, encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures Open
GENERAL COMMENTARY article Front. Mol. Neurosci., 27 September 2022Sec. Brain Disease Mechanisms Volume 15 - 2022 | https://doi.org/10.3389/fnmol.2022.1017684
View article: <i>RFC1</i> repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia
<i>RFC1</i> repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia Open
Background and purpose Ataxia and cough are rare features in hereditary sensory and autonomic neuropathies (HSAN), a group of diseases of mostly unknown genetic cause. Biallelic repeat expansions in RFC1 are associated with cerebellar atax…
View article: De Novo and Dominantly Inherited <scp><i>SPTAN1</i></scp> Mutations Cause Spastic Paraplegia and Cerebellar Ataxia
De Novo and Dominantly Inherited <span><i>SPTAN1</i></span> Mutations Cause Spastic Paraplegia and Cerebellar Ataxia Open
Background Pathogenic variants in SPTAN1 have been linked to a remarkably broad phenotypical spectrum. Clinical presentations include epileptic syndromes, intellectual disability, and hereditary motor neuropathy. Objectives We investigated…
View article: A Recurrent <scp><i>KPNA3</i></scp> Missense Variant Causing Infantile Pure Spastic Paraplegia
A Recurrent <span><i>KPNA3</i></span> Missense Variant Causing Infantile Pure Spastic Paraplegia Open