Claudia Castiglioni
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View article: An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome Open
View article: Patient and caregiver spinal muscular atrophy treatment attribute preferences in Latin America
Patient and caregiver spinal muscular atrophy treatment attribute preferences in Latin America Open
Background: Spinal muscular atrophy (SMA) is a rare, progressive neuromuscular disease associated with a significant burden of illness to both patients and caregivers; however, there is little evidence available regarding how patients and …
View article: Bloodhounds chasing the origin of blood cells
Bloodhounds chasing the origin of blood cells Open
View article: TNAP expressing adventitial pericytes contribute to myogenesis during foetal development
TNAP expressing adventitial pericytes contribute to myogenesis during foetal development Open
This work extends our understanding of the differentiative potency of these non- canonical skeletal muscle progenitors during prenatal life, with a view to a future application of this knowledge to optimise cell therapies for muscle wastin…
View article: Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration Open
Predicting and quantifying phenotypic consequences of genetic variants in rare disorders is a major challenge, particularly pertinent for ‘actionable’ genes such as thyroid hormone transporter MCT8 (encoded by the X-linked SLC16A2 gene), w…
View article: <scp>NEUROMYODredger</scp> : Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries
<span>NEUROMYODredger</span> : Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries Open
Although substantial advancements have been made in genetic testing, several barriers continue to limit patient access, leading to delays in diagnosis, effective treatments, and preventative measures. The NEUROMYODredger‐3billion Megaproje…
View article: VMA21-X-linked myopathy in Peru: characterization of three families
VMA21-X-linked myopathy in Peru: characterization of three families Open
VMA21-X-Linked related myopathy is a rare neuromuscular disease characterized by a wide phenotypic spectrum ranging from neonatal forms with severe muscular weakness and respiratory failure, to mild childhood or adult-onset forms with slow…
View article: Imaging-Based Molecular Interaction Between Src and Lamin A/C Mechanosensitive Proteins in the Nucleus of Laminopathic Cells
Imaging-Based Molecular Interaction Between Src and Lamin A/C Mechanosensitive Proteins in the Nucleus of Laminopathic Cells Open
Laminopathies represent a wide range of genetic disorders caused by mutations in gene-encoding proteins of the nuclear lamina. Altered nuclear mechanics have been associated with laminopathies, given the key role of nuclear lamins as mecha…
View article: Inferring disease course from differential exon usage in the wide titinopathy spectrum
Inferring disease course from differential exon usage in the wide titinopathy spectrum Open
Objective Biallelic titin truncating variants (TTNtv) have been associated with a wide phenotypic spectrum, ranging from complex prenatal muscle diseases with dysmorphic features to adult‐onset limb‐girdle muscular dystrophy, with or witho…
View article: Cuidados respiratorios en pacientes con atrofia muscular espinal para evitar el fallo ventilatorio agudo y la traqueostomía: revisión literaria y recomendaciones consensuadas
Cuidados respiratorios en pacientes con atrofia muscular espinal para evitar el fallo ventilatorio agudo y la traqueostomía: revisión literaria y recomendaciones consensuadas Open
La atrofia muscular espinal (AME) 5q es una de las enfermedades neuromusculares de mayor incidencia en la infancia. Sin embargo, la prevalencia de AME tipo 1, su forma más severa de presentación, es menor debido a muertes prematuras evitab…
View article: Life-Saving Treatments for Spinal Muscular Atrophy
Life-Saving Treatments for Spinal Muscular Atrophy Open
Overall, this survey highlights the global inequality in managing patients with SMA. The spread of newborn screening is essential in ensuring improved access to care for patients with SMA. With the advancement of neurotherapeutics, more ge…
View article: Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1
Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1 Open
Background SMA type 1 is a severe neurodegenerative disorder that, in the absence of curative treatment, leads to death before 1 year of age without ventilatory support. Three innovative therapies are available to increase life expectancy.…
View article: An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome Open
View article: Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2 Open
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder caused by biallelic loss or pathogenic variants in the SMN1 gene. Copy number and modifier intragenic variants in SMN2, an almost identical paralog gene of SMN1, are known to…
View article: Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population Open
Hereditary myopathies are a group of genetically determined muscle disorders comprising more than 300 entities. In Chile, there are no specific registries of the distinct forms of these myopathies. We now report the genetic findings of a s…
View article: Palliative Care for Patients with End-Stage, Non-Oncologic Diseases—A Retrospective Study in Three Public Palliative Care Departments in Northern Italy
Palliative Care for Patients with End-Stage, Non-Oncologic Diseases—A Retrospective Study in Three Public Palliative Care Departments in Northern Italy Open
Patients with irreversible malignant and non-malignant diseases have comparable mortality rates, symptom burdens, and quality of life issues; however, non-cancer patients seldom receive palliative care (PC) or receive it late in their dise…
View article: Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps
Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps Open
Objective To describe clinical, laboratory, and genetic characteristics of three unrelated cases from Chile, Portugal, and Saudi Arabia with severe insulin resistance, SOFT syndrome, and biallelic pathogenic POC1A variants. Design Observat…
View article: Species-Specific Inhibition of Necroptosis by HCMV UL36
Species-Specific Inhibition of Necroptosis by HCMV UL36 Open
Viral infection activates cellular antiviral defenses including programmed cell death (PCD). Many viruses, particularly those of the Herpesviridae family, encode cell death inhibitors that antagonize different forms of PCD. While some vira…
View article: Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort Open
View article: International retrospective natural history study of LMNA-related congenital muscular dystrophy Short Title: LMNA-CMD natural history
International retrospective natural history study of LMNA-related congenital muscular dystrophy Short Title: LMNA-CMD natural history Open
International audience
View article: International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophy
International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophy Open
Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these condit…
View article: LBSL
LBSL Open
DARS2 variants are associated with highly heterogeneous phenotypes. New MRI presentations are profound cerebral hypoplasia/atrophy and white matter abnormalities without long tract involvement. Our findings have implications for dia…
View article: Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum Open
View article: Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant
Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant Open
View article: DOORS syndrome and a recurrent truncating ATP6V1B2 variant
DOORS syndrome and a recurrent truncating ATP6V1B2 variant Open
View article: Calidad de vida en niños y adolescentes con Atrofia Muscular Espinal
Calidad de vida en niños y adolescentes con Atrofia Muscular Espinal Open
Introducción: La calidad de vida (CV) es un aspecto fundamental del tratamiento en pacientes con Atrofia Muscular Espinal (AME). Existe escasa información a nivel local e internacional.Objetivo: Caracterizar la CV en una muestra de niños y…
View article: The clinical, histologic, and genotypic spectrum of <i>SEPN1</i> -related myopathy
The clinical, histologic, and genotypic spectrum of <i>SEPN1</i> -related myopathy Open
Our results inform clinical practice, improving diagnosis and management, and represent a major breakthrough for clinical trial readiness in this not so rare disease.
View article: Calidad de vida en niños y adolescentes con Atrofia Muscular Espinal
Calidad de vida en niños y adolescentes con Atrofia Muscular Espinal Open
Introducción: La calidad de vida (CV) es un aspecto fundamental del tratamiento en pacientes con Atrofia Muscular Espinal (AME). Existe escasa información a nivel local e internacional.Objetivo: Caracterizar la CV en una muestra de niños y…
View article: Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study Open
View article: Spontaneous symptomatic improvement in a pediatric patient with anti-3-hydroxy-3-methylglutraryl-coenzyme A reductase myopathy
Spontaneous symptomatic improvement in a pediatric patient with anti-3-hydroxy-3-methylglutraryl-coenzyme A reductase myopathy Open