Shahram Attarian
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View article: Systematic Review of Immune and Symptomatic Treatments for Stiff‐Person Syndrome
Systematic Review of Immune and Symptomatic Treatments for Stiff‐Person Syndrome Open
Background and Purpose This systematic review evaluated the effectiveness and safety of immune and symptomatic treatments in patients with stiff‐person syndrome (SPS). Methods A systematic search of PubMed, Embase, and the Cochrane Library…
View article: Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database
Medical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database Open
View article: Gene therapy-mediated overexpression of wild-type MFN2 improves Charcot-Marie-Tooth disease type 2A
Gene therapy-mediated overexpression of wild-type MFN2 improves Charcot-Marie-Tooth disease type 2A Open
Charcot-Marie-Tooth disease type 2A (CMT2A) is the most common axonal CMT and is associated with an early onset and severe motor-dominant phenotype. CMT2A is mainly caused by dominant mutations in the MFN2 gene, encoding Mitofusin-2, a GTP…
View article: Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1
Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1 Open
Importance Therapeutic advances have transformed the prognosis of spinal muscular atrophy (SMA). Given the lifelong implications of these innovative therapies, comparative data on their efficacy are urgently required. Objective To compare …
View article: Causes of Death and Comorbidities in Adult Patients With Late‐Onset Pompe Disease: A French Pompe Registry Retrospective Study
Causes of Death and Comorbidities in Adult Patients With Late‐Onset Pompe Disease: A French Pompe Registry Retrospective Study Open
Background and Objectives Mortality in Late‐Onset Pompe Disease (LOPD) has been associated with the rapid progression of respiratory and motor impairment. However, an in‐depth approach to the exact causes of death in these patients is stil…
View article: Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (<scp>FILNEMUS</scp>) and the French National Rare Disease Database (<scp>BNDMR</scp>)
Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (<span>FILNEMUS</span>) and the French National Rare Disease Database (<span>BNDMR</span>) Open
Background Diagnostic wandering and impasse are major challenges for rare disease management. This study describes the characteristics of patients with rare neuromuscular diseases (RNMDs) without a diagnosis being managed by the French nat…
View article: Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial
Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial Open
ClinicalTrials.gov, NCT02782741, https://clinicaltrials.gov/ct2/show/NCT02782741 . Registration date: 2016-05-23; Date of first patient enrolled: 2016-11-02.
View article: Is the decrement pattern in myasthenia gravis due to muscle-specific kinase antibodies different to that due to acetylcholine receptor antibodies?
Is the decrement pattern in myasthenia gravis due to muscle-specific kinase antibodies different to that due to acetylcholine receptor antibodies? Open
Compared to AChR-MG, RNS in MuSK-MG showed fewer affected muscles, with less frequent involvement of anconeus and TA in particular; and a more progressive decrement pattern.
View article: Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With <i>SH3TC2</i> Gene‐Related Demyelinating Peripheral Neuropathy
Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With <i>SH3TC2</i> Gene‐Related Demyelinating Peripheral Neuropathy Open
Background Autosomal recessive mutations in the SH3TC2 gene cause Charcot–Marie‐Tooth type 4C (CMT4C) demyelinating peripheral neuropathy. Methods In this nationwide observational retrospective study involving 27 French University Hospital…
View article: Frequency and Relevance of <scp>MYD88<sup>L256P</sup></scp> Mutation in Chronic Inflammatory Demyelinating Polyradiculoneuropathy and Multifocal Motor Neuropathy
Frequency and Relevance of <span>MYD88<sup>L256P</sup></span> Mutation in Chronic Inflammatory Demyelinating Polyradiculoneuropathy and Multifocal Motor Neuropathy Open
Background The myeloid differentiation primary response 88 (MYD88) protein is involved in immune processes through the activation of the toll‐like receptors and the interleukin‐1 receptor. The acquired MYD88 L256P mutation enhances its act…
View article: Motor Unit Number Index (<scp>MUNIX</scp>) in Control Children: Reference Values and Reliability
Motor Unit Number Index (<span>MUNIX</span>) in Control Children: Reference Values and Reliability Open
Introduction/Aims The motor unit number index (MUNIX) is recognized as a reliable electrophysiological biomarker, and reference values are available for healthy adults but not for children. The aim of this study was to determine reference …
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: Digenesis in Charcot–Marie–Tooth Disease: Impact of Combined Mutations in the <scp><i>MFN2</i></scp> and <scp><i>GDAP1</i></scp> Genes
Digenesis in Charcot–Marie–Tooth Disease: Impact of Combined Mutations in the <span><i>MFN2</i></span> and <span><i>GDAP1</i></span> Genes Open
Background and Aims Charcot–Marie–Tooth disease (CMT) is a rare hereditary neuropathy that affects peripheral nerves in the upper and lower limbs. To distinguish between the different forms of the disease, electrophysiological criteria are…
View article: Evaluating machine learning pipelines for multimodal neuroimaging in small cohorts: an ALS case study
Evaluating machine learning pipelines for multimodal neuroimaging in small cohorts: an ALS case study Open
Advancements in machine learning hold great promise for the analysis of multimodal neuroimaging data. They can help identify biomarkers and improve diagnosis for various neurological disorders. However, the application of such techniques f…
View article: Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI
Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI Open
Background Neuromuscular diseases (NMDs) are rare disorders characterized by progressive muscle fibre loss, leading to replacement by fibrotic and fatty tissue, muscle weakness and disability. Early diagnosis is critical for therapeutic de…
View article: <scp>ADAPT NXT</scp>: Fixed Cycles or Every‐Other‐Week <scp>IV</scp> Efgartigimod in Generalized Myasthenia Gravis
<span>ADAPT NXT</span>: Fixed Cycles or Every‐Other‐Week <span>IV</span> Efgartigimod in Generalized Myasthenia Gravis Open
Objective This phase 3b, open‐label, randomized ADAPT NXT study investigated the efficacy, safety, and tolerability of efgartigimod administered in either a fixed cycles dosing regimen (3 cycles of 4 once‐weekly infusions, with 4 weeks bet…
View article: Intraepineurial Fat Fraction: A Novel <scp>MR</scp> Neurography‐Based Biomarker in Transthyretin Amyloidosis Polyneuropathy
Intraepineurial Fat Fraction: A Novel <span>MR</span> Neurography‐Based Biomarker in Transthyretin Amyloidosis Polyneuropathy Open
Introduction Hereditary transthyretin amyloid polyneuropathy ( ATTRv ‐ PN ) is a rare and progressive neurodegenerative disorder characterized by axonal neuropathy and amyloid deposits. Early detection of disease onset and progression is c…
View article: Large-scale profiling of antibody reactivity to glycolipids in patients with Guillain-Barré syndrome
Large-scale profiling of antibody reactivity to glycolipids in patients with Guillain-Barré syndrome Open
Guillain-Barré syndrome is an acute polyradiculoneuropathy in which preceding infections often elicit the production of antibodies that target peripheral nerve antigens, principally gangliosides. Anti-ganglioside antibodies are thought to …
View article: Toward European harmonization of national myasthenia gravis registries: modified Delphi procedure-based expert consensus on collectable data
Toward European harmonization of national myasthenia gravis registries: modified Delphi procedure-based expert consensus on collectable data Open
Background Myasthenia gravis (MG) is a rare autoimmune disorder. Several new treatment concepts have emerged in recent years, but access to these treatments varies due to differing national reimbursement regulations, leading to disparities…
View article: Diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneuropathy unresponsive to intravenous immunoglobulins: results of a retrospective study
Diagnosis of hereditary transthyretin amyloidosis in patients with suspected chronic inflammatory demyelinating polyneuropathy unresponsive to intravenous immunoglobulins: results of a retrospective study Open
Background and aims Hereditary transthyretin amyloidosis (ATTRv) should be considered in patients diagnosed with intravenous immunoglobulin (IVIg)-resistant chronic inflammatory demyelinating polyradiculoneuropathy (IVIg-NR CIDP). In this …
View article: Disease Progression in Charcot‐Marie‐Tooth Disease Type <scp>4B</scp> (<scp>CMT4B</scp>) Associated With Mutations in Myotubularin‐Related Proteins 2 and 13
Disease Progression in Charcot‐Marie‐Tooth Disease Type <span>4B</span> (<span>CMT4B</span>) Associated With Mutations in Myotubularin‐Related Proteins 2 and 13 Open
Background and Aims In 2019, we conducted a cross‐sectional study, collecting information on 50 patients with CMT4B, an ultrarare CMT subtype, to better define the clinical phenotype. We now aimed at investigating disease progression in 26…
View article: Correction: Switching from inotersen to eplontersen in patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: analysis from NEURO-TTRansform
Correction: Switching from inotersen to eplontersen in patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: analysis from NEURO-TTRansform Open
View article: In vivo mapping of sodium homeostasis disturbances in individual ALS patients: A brain 23Na MRI study
In vivo mapping of sodium homeostasis disturbances in individual ALS patients: A brain 23Na MRI study Open
Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by significant heterogeneity among patients. 23 Na MRI maps abnormal sodium homeostasis that reflects metabolic alterations and energetic failure co…
View article: Five-Year Results With Patisiran for Hereditary Transthyretin Amyloidosis With Polyneuropathy
Five-Year Results With Patisiran for Hereditary Transthyretin Amyloidosis With Polyneuropathy Open
Importance There is a lack of long-term efficacy and safety data on hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) and on RNA interference (RNAi) therapeutics in general. This study presents the longest-term data to da…
View article: Vacuolar myopathy with monoclonal gammopathy and stiffness (VAMMGAS)
Vacuolar myopathy with monoclonal gammopathy and stiffness (VAMMGAS) Open
Background Monoclonal gammopathy (MG) has been reported in association with numerous neurological disorders but the spectrum of MG‐associated myopathies remains poorly described. Objective To report a newly acquired myopathy associated wit…
View article: Challenges in multinational rare disease clinical studies during COVID-19: regulatory assessment of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease
Challenges in multinational rare disease clinical studies during COVID-19: regulatory assessment of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease Open
PROPEL (ATB200-03; NCT03729362) compared the efficacy and safety of cipaglucosidase alfa plus miglustat (cipa + mig), a two-component therapy for late-onset Pompe disease (LOPD), versus alglucosidase alfa plus placebo (alg + pbo). The prim…
View article: SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance Open
View article: Electrophysiological Monitoring of Asymptomatic Transthyretin Mutation Carriers
Electrophysiological Monitoring of Asymptomatic Transthyretin Mutation Carriers Open
Introduction/Aims It is imperative to screen asymptomatic carriers of transthyretin (TTR) mutations to initiate treatment early. The protocol for repeated electrodiagnostic (EDX) assessments over time lacks standardization. Our aim was to …
View article: Chronic inflammatory demyelinating polyradiculoneuropathies (<scp>CIDP</scp>) with monotruncular onset: Frequency, clinical features, electrophysiology, and evolution
Chronic inflammatory demyelinating polyradiculoneuropathies (<span>CIDP</span>) with monotruncular onset: Frequency, clinical features, electrophysiology, and evolution Open
Background Multifocal chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is the most frequent variant of CIDP. It is characterized by asymmetric multifocal sensory and motor impairments. Few cases with monotruncular onset hav…
View article: Real‐life experience with disease‐modifying drugs in hereditary transthyretin amyloid polyneuropathy: A clinical and electrophysiological appraisal
Real‐life experience with disease‐modifying drugs in hereditary transthyretin amyloid polyneuropathy: A clinical and electrophysiological appraisal Open
Introduction New treatments have dramatically improved the prognosis for Hereditary Transthyretin Amyloid Polyneuropathy (ATTRv‐PN). However, there is a lack of routine follow‐up studies outside of therapeutic trials. Our aim was to report…