Giorgia Querin
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View article: New developments in imaging in ALS
New developments in imaging in ALS Open
Neuroimaging in ALS has contributed considerable academic insights in recent years demonstrating genotype-specific topological changes decades before phenoconversion and characterising longitudinal propagation patterns in specific phenotyp…
View article: Safety and efficacy of chronic weekly rozanolixizumab in generalized myasthenia gravis: the randomized open-label extension MG0004 study
Safety and efficacy of chronic weekly rozanolixizumab in generalized myasthenia gravis: the randomized open-label extension MG0004 study Open
View article: Encephalography cross-frequency coupling and brain alteration in amyotrophic lateral sclerosis
Encephalography cross-frequency coupling and brain alteration in amyotrophic lateral sclerosis Open
The diagnosis of amyotrophic lateral sclerosis requires identifying degeneration in both brain and bulbospinal motor neurons. However, detecting cortical dysfunction remains challenging, as peripheral symptoms often overshadow upper motor …
View article: 271st ENMC international workshop: Towards a unifying effort to fight Kennedy's disease. 20-22 October 2023, Hoofddorp, Netherlands
271st ENMC international workshop: Towards a unifying effort to fight Kennedy's disease. 20-22 October 2023, Hoofddorp, Netherlands Open
View article: Role of circulating biomarkers in spinal muscular atrophy: insights from a new treatment era
Role of circulating biomarkers in spinal muscular atrophy: insights from a new treatment era Open
Spinal muscular atrophy (SMA) is a lower motor neuron disease due to biallelic mutations in the SMN1 gene on chromosome 5. It is characterized by progressive muscle weakness of limbs, bulbar and respiratory muscles. The disease is usually …
View article: The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA)
The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA) Open
View article: Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy Open
Non-5q SMA is genetically heterogeneous, and neuropathy gene panels achieve a molecular diagnosis in one-third of the patients. The diagnostic yield can be increased by sequencing of other neuromuscular and neurometabolic genes. Neverthele…
View article: <scp>HINT1</scp> neuropathy: Expanding the genotype and phenotype spectrum
<span>HINT1</span> neuropathy: Expanding the genotype and phenotype spectrum Open
Inherited peripheral neuropathy (IPN) is a heterogeneous group of disorders due to pathogenic variation in more than 100 genes. In 2012, the first cases of IPN associated with HINT1 pathogenic variations were described in 33 families shari…
View article: Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles
Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles Open
Background The cause of the motor neuron (MN) death that drives terminal pathology in amyotrophic lateral sclerosis (ALS) remains unknown, and it is thought that the cellular environment of the MN may play a key role in MN survival. Severa…
View article: Biomarkers for C9orf7-ALS in Symptomatic and Pre-symptomatic Patients: State-of-the-art in the New Era of Clinical Trials
Biomarkers for C9orf7-ALS in Symptomatic and Pre-symptomatic Patients: State-of-the-art in the New Era of Clinical Trials Open
The development of new possible treatments for C9orf72-related ALS and the possibility of early identification of subjects genetically at risk of developing the disease is creating a critical need for biomarkers to track neurodegeneration …
View article: La plateforme I-Motion Adultes
La plateforme I-Motion Adultes Open
International audience
View article: Deep phenotyping of an international series of patients with late‐onset dysferlinopathy
Deep phenotyping of an international series of patients with late‐onset dysferlinopathy Open
Background To describe the clinical, pathological, and molecular characteristics of late‐onset (LO) dysferlinopathy patients. Methods Retrospective series of patients with LO dysferlinopathy, defined by an age at onset of symptoms ≥30 year…
View article: Muscle cells of sporadic ALS patients secrete neurotoxic vesicles
Muscle cells of sporadic ALS patients secrete neurotoxic vesicles Open
Background The cause of the motor neuron (MN) death that drives terminal pathology in Amyotrophic Lateral Sclerosis (ALS) remains unknown, and it is thought that the cellular environment of the MN may play a key role in MN survival. Severa…
View article: Development of new outcome measures for adult SMA type III and IV: a multimodal longitudinal study
Development of new outcome measures for adult SMA type III and IV: a multimodal longitudinal study Open
View article: Clinical correlations and long‐term follow‐up in 100 patients with sarcoglycanopathies
Clinical correlations and long‐term follow‐up in 100 patients with sarcoglycanopathies Open
Background and purpose To describe a large series of patients with α, β, and γ sarcoglycanopathies (LGMD‐R3, R4, and R5) and study phenotypic correlations and disease progression. Methods A multicentric retrospective study in four centers …
View article: Beyond the Traditional Clinical Trials for Amyotrophic Lateral Sclerosis and The Future Impact of Gene Therapy
Beyond the Traditional Clinical Trials for Amyotrophic Lateral Sclerosis and The Future Impact of Gene Therapy Open
Amyotrophic lateral sclerosis (ALS) is a devastating and incurable motor neuron (MN) disorder affecting both upper and lower MNs. Despite impressive advances in the understanding of the disease’s pathological mechanism, classical pharmacol…
View article: The Identification of Novel Biomarkers Is Required to Improve Adult SMA Patient Stratification, Diagnosis and Treatment
The Identification of Novel Biomarkers Is Required to Improve Adult SMA Patient Stratification, Diagnosis and Treatment Open
Spinal muscular atrophy (SMA) is currently classified into five different subtypes, from the most severe (type 0) to the mildest (type 4) depending on age at onset, best motor function achieved, and copy number of the SMN2 gene. The two re…
View article: The French national protocol for Kennedy’s disease (SBMA): consensus diagnostic and management recommendations
The French national protocol for Kennedy’s disease (SBMA): consensus diagnostic and management recommendations Open
Background Kennedy’s disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, X-linked recessive neuromuscular disease caused by CAG expansions in exon 1 of the androgen receptor gene (AR). The objecti…
View article: Absence of hyperexcitability of spinal motoneurons in patients with amyotrophic lateral sclerosis
Absence of hyperexcitability of spinal motoneurons in patients with amyotrophic lateral sclerosis Open
Key points Amyotrophic lateral sclerosis (ALS) motoneurons become hypoexcitable with disease progression in experimental models, raising questions about the neural hyperexcitability supported by clinical observations. A variant of the ∆ F …
View article: Adaptive functional reorganization in amyotrophic lateral sclerosis: coexisting degenerative and compensatory changes
Adaptive functional reorganization in amyotrophic lateral sclerosis: coexisting degenerative and compensatory changes Open
Background and purpose Considerable functional reorganization takes place in amyotrophic lateral sclerosis (ALS) in face of relentless structural degeneration. This study evaluates functional adaptation in ALS patients with lower motor neu…
View article: Unravelling the tangle of motor neuron diseases : insights from neuroimaging and neurophysiology
Unravelling the tangle of motor neuron diseases : insights from neuroimaging and neurophysiology Open
Motor neuron diseases (MNDs) are characterized by dysfunction and loss of ventral horn MNs in the spinal grey matter (GM). Nevertheless, different MNDs such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) present w…
View article: Presymptomatic spinal cord pathology in <i>c9orf72</i> mutation carriers: A longitudinal neuroimaging study
Presymptomatic spinal cord pathology in <i>c9orf72</i> mutation carriers: A longitudinal neuroimaging study Open
Objective C9orf72 hexanucleotide repeats expansions account for almost half of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) cases. Recent imaging studies in asymptomatic C9orf72 carriers have demonstrated …
View article: Results from Phase I Clinical Trial with Intraspinal Injection of Neural Stem Cells in Amyotrophic Lateral Sclerosis: A Long-Term Outcome
Results from Phase I Clinical Trial with Intraspinal Injection of Neural Stem Cells in Amyotrophic Lateral Sclerosis: A Long-Term Outcome Open
The main objective of this phase I trial was to assess the feasibility and safety of microtransplanting human neural stem cell (hNSC) lines into the spinal cord of patients with amyotrophic lateral sclerosis (ALS). Eighteen patients with a…
View article: Spinal Cord Imaging in Amyotrophic Lateral Sclerosis: Historical Concepts—Novel Techniques
Spinal Cord Imaging in Amyotrophic Lateral Sclerosis: Historical Concepts—Novel Techniques Open
Amyotrophic lateral sclerosis (ALS) is the most common adult onset motor neuron disease with no effective disease modifying therapies at present. Spinal cord degeneration is a hallmark feature of ALS, highlighted in the earliest descriptio…
View article: Machine Learning in Amyotrophic Lateral Sclerosis: Achievements, Pitfalls, and Future Directions
Machine Learning in Amyotrophic Lateral Sclerosis: Achievements, Pitfalls, and Future Directions Open
Background: Amyotrophic Lateral Sclerosis (ALS) is a relentlessly progressive neurodegenerative condition with limited therapeutic options at present. Survival from symptom onset ranges from 3 to 5 years depending on genetic, demogr…
View article: Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy
Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy Open
While muscle damage and muscle mass biomarkers are abnormal in SBMA, axonal damage markers are unchanged, highlighting the relevant primary role of skeletal muscle in disease pathogenesis. Creatinine, but not CK, correlated with disease se…
View article: The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study
The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study Open
View article: Insights into the genetic epidemiology of spinal and bulbar muscular atrophy: prevalence estimation and multiple founder haplotypes in the Veneto Italian region
Insights into the genetic epidemiology of spinal and bulbar muscular atrophy: prevalence estimation and multiple founder haplotypes in the Veneto Italian region Open
Background and purpose Literature data on spinal and bulbar muscular atrophy ( SBMA ) epidemiology are limited and restricted to specific populations. The aim of our study was to accurately collect information about SBMA patients living in…
View article: Biomarkers of Spinal and Bulbar Muscle Atrophy (SBMA): A Comprehensive Review
Biomarkers of Spinal and Bulbar Muscle Atrophy (SBMA): A Comprehensive Review Open
Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a rare, X-linked, late onset neuromuscular disorder. The disease is caused by a CAG trinucleotide repeat expansion in the first exon of the androgen receptor ge…
View article: The motor unit number index (MUNIX) profile of patients with adult spinal muscular atrophy
The motor unit number index (MUNIX) profile of patients with adult spinal muscular atrophy Open