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View article: Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability
Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability Open
Historically defined as non–functional copies of coding genes, pseudogenes are an abundant yet underexplored element in the human genome, despite growing evidence linking them to human diseases. From a genome wide screen, we identified 411…
View article: CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project
CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project Open
Background CGG expansions in NOTCH2NLC and LRP12 were recently identified as a cause of Charcot-Marie-Tooth disease (CMT) in 1.2%–10.6% of genetically undiagnosed patients in China, Taiwan and Japan. However, their relevance in CMT patient…
View article: Bi-allelic mutations in <i>KCTD11</i> cause a new form of autosomal recessive intermediate Charcot-Marie-Tooth disease
Bi-allelic mutations in <i>KCTD11</i> cause a new form of autosomal recessive intermediate Charcot-Marie-Tooth disease Open
Charcot-Marie-Tooth disease (CMT) is the most common inherited neuromuscular disorder, characterized by progressive, length-dependent degeneration of peripheral nerves, resulting in distal muscle atrophy and weakness, foot and hand deformi…
View article: Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry Open
View article: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry Open
Oculopharyngodistal myopathy (OPDM) is an inherited myopathy manifesting with ptosis, dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and intranuclear inclusions on muscle biopsy. In recent years CGG • …
View article: Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 <scp>CANVAS</scp> and Disease Spectrum
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 <span>CANVAS</span> and Disease Spectrum Open
Background Biallelic intronic AAGGG repeat expansions in the replication factor complex subunit 1 ( RFC1 ) gene were identified as the leading cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome. Patients exhibit signific…
View article: Correction to: Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis
Correction to: Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis Open
View article: Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions
Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions Open
A recessive Short Tandem Repeat expansion in RFC1 has been found to be associated with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS), and to be a frequent cause of late onset ataxia and sensory neuropathy. The us…
View article: Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease Open
RFC1 disease, caused by biallelic repeat expansion in RFC1 , is clinically heterogeneous in terms of age of onset, disease progression and phenotype. We investigated the role of the repeat size in influencing clinical variables in RFC1 dis…
View article: Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis
Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis Open
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive neurodegenerative disease, usually caused by biallelic AAGGG repeat expansions in RFC1. In this study, we leveraged whole genome sequencing …
View article: Truncating Variants in <i>RFC1</i> in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
Truncating Variants in <i>RFC1</i> in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome Open
Our report expands the genotype spectrum of RFC1 disease. Full RFC1 sequencing is recommended in cases affected by typical CANVAS and carrying monoallelic (AAGGG)n expansions. In addition, it sheds further light on the pa…
View article: Electrophysiological evidence of subclinical trigeminal dysfunction in patients with COVID-19 and smell impairment: A pilot study
Electrophysiological evidence of subclinical trigeminal dysfunction in patients with COVID-19 and smell impairment: A pilot study Open
Background Smell and taste disturbances are among the most frequent neurological symptoms in patients with COVID-19. A concomitant impairment of the trigeminal nerve has been suggested in subjects with olfactory dysfunction, although it ha…
View article: Muscle quantitative MRI as a novel biomarker in hereditary transthyretin amyloidosis with polyneuropathy: a cross-sectional study
Muscle quantitative MRI as a novel biomarker in hereditary transthyretin amyloidosis with polyneuropathy: a cross-sectional study Open
Background The development of reproducible and sensitive outcome measures has been challenging in hereditary transthyretin (ATTRv) amyloidosis. Recently, quantification of intramuscular fat by magnetic resonance imaging (MRI) has proven as…