Aleksandra Nadaj‐Pakleza
YOU?
Author Swipe
View article: Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review
Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review Open
Pathogenic variants in the MYH2 gene are associated with congenital myopathy . We report 13 unrelated patients and a systematic review of published cases through 30 October 2024, supplemented by HGMD Pro (2024.2) and LOVD ( https://www.lov…
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: 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: Spinal muscular atrophy is also a disorder of spermatogenesis
Spinal muscular atrophy is also a disorder of spermatogenesis Open
Background Spinal muscular atrophy (SMA) patients benefit from pre-mRNA splicing modifiers targeting the SMN2 gene, which aims to increase functional SMN production. The animal toxicity affecting spermatogenesis associated with one such tr…
View article: <i>MYH7</i>-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort
<i>MYH7</i>-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort Open
Background Myosin heavy chain 7 ( MYH7 )-related myopathies ( MYH7 -RMs) are a group of muscle disorders linked to pathogenic variants in the MYH7 gene, encoding the slow/beta-cardiac myosin heavy chain, which is highly expressed in skelet…
View article: Self-reported outcomes and quality of life of patients with non-dystrophic myotonia: The French IMPACT 2022 survey
Self-reported outcomes and quality of life of patients with non-dystrophic myotonia: The French IMPACT 2022 survey Open
Non-dystrophic myotonias (NDM) are disabling genetic diseases that impact quality of life. To reduce the impact of NDM, patients develop coping strategies such as lifestyle adaptation and avoiding key triggers. To understand how myotonia a…
View article: Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis
Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis Open
Neurological Motor Disorders
View article: The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability
The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability Open
Filamin C-related disorders include myopathies and cardiomyopathies linked to variants in the FLNC gene. Filamin C belongs to a family of actin-binding proteins involved in sarcomere stability. This study investigates the pathogenic impact…
View article: Long‐term prognosis of fatty‐acid oxidation disorders in adults: Optimism despite the limited effective therapies available
Long‐term prognosis of fatty‐acid oxidation disorders in adults: Optimism despite the limited effective therapies available Open
Introduction Fatty‐acid oxidation disorders (FAODs) are recessive genetic diseases. Materials and methods We report here clinical and paraclinical data from a retrospective study of 44 adults with muscular FAODs from six French reference c…
View article: In inflammatory myopathies, dropped head/bent spine syndrome is associated with scleromyositis: an international case–control study
In inflammatory myopathies, dropped head/bent spine syndrome is associated with scleromyositis: an international case–control study Open
Background Some myopathies can lead to dropped head or bent spine syndrome (DH/BS). The significance of this symptom has not been studied in inflammatory myopathies (IM). Objectives To assess the significance of DH/BS in patients with IM. …
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: Characteristics of Patients With Late-Onset Pompe Disease in France
Characteristics of Patients With Late-Onset Pompe Disease in France Open
This update confirms previous findings for the adult population included in the French Pompe disease registry, but with a lower clinical severity at inclusion, suggesting that this rare disease is now diagnosed earlier; thanks to greater a…
View article: Refining Incidence and Characteristics of Inflammatory Myopathies: A <scp>Quadruple‐Source Capture–Recapture</scp> Survey Using the 2017 <scp>European League Against Rheumatism</scp>/American College of Rheumatology Classification Criteria
Refining Incidence and Characteristics of Inflammatory Myopathies: A <span>Quadruple‐Source Capture–Recapture</span> Survey Using the 2017 <span>European League Against Rheumatism</span>/American College of Rheumatology Classification Criteria Open
Objective Inflammatory myopathies (IM), characterized by muscle inflammation and weakness, are rare systemic diseases. Our previous study estimated an IM incidence rate of 7.98 cases per million people per year (95% confidence interval 7.3…
View article: Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks Open
Importance In the previously reported Comparative Enzyme Replacement Trial With neoGAA Versus rhGAA (COMET) trial, avalglucosidase alfa treatment for 49 weeks showed clinically meaningful improvements in upright forced vital capacity (FVC)…
View article: <scp><i>SORD</i></scp>‐related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages
<span><i>SORD</i></span>‐related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages Open
Background and purpose Biallelic variants in SORD have been reported as one of the main recessive causes for hereditary peripheral neuropathies such as Charcot–Marie–Tooth disease type 2 (CMT2) and distal hereditary motor neuropathy (dHMN)…
View article: Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study
Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study Open
Hereditary transthyretin amyloidosis (ATTRv) is an adult-onset autosomal dominant disease resulting from TTR gene pathogenic variants. ATTRv often presents as a progressive polyneuropathy, and effective ATTRv treatments are availabl…
View article: Expanding the phenotypic variability of <i>MORC2</i> gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy
Expanding the phenotypic variability of <i>MORC2</i> gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy Open
MORC2 gene encodes a ubiquitously expressed nuclear protein involved in chromatin remodeling, DNA repair, and transcriptional regulation. Heterozygous mutations in MORC2 gene have been associated with a spectrum of disorders affecting the …
View article: Hypertrophie musculaire : signe de bonne santé ou de maladie ?
Hypertrophie musculaire : signe de bonne santé ou de maladie ? Open
In order to explain muscle hypertrophy in a patient complaining of muscular symptoms one must take into account the patient’s daily professional or leisure physical activity. If muscle hypertrophy cannot be attributed to active lifestyle, …
View article: Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy
Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy Open
View article: New MORC2 gene mutations are associated with distinctive features: from axonal neuropathy to late adult-onset spinal muscular atrophy like phenotype
New MORC2 gene mutations are associated with distinctive features: from axonal neuropathy to late adult-onset spinal muscular atrophy like phenotype Open
MORC2 gene encodes a ubiquitously expressed nuclear protein involved in chromatin remodeling, DNA repair, and transcriptional regulation. Heterozygous mutations in MORC2 gene have been associated with a spectrum of disorders affecting the …
View article: No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross‐over trial
No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross‐over trial Open
The objective was to investigate whether resveratrol (RSV) can improve exercise capacity in patients with fatty acid oxidation (FAO) disorders. The study was a randomized, double‐blind, cross‐over trial. Nine patients with very long‐chain …
View article: 63rd Meeting of the French Society of Neuropathology - Meeting Abstracts , December 3rd. 2021
63rd Meeting of the French Society of Neuropathology - Meeting Abstracts , December 3rd. 2021 Open
International audience
View article: Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial Open
View article: A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases Open
View article: A rise in cases of nitrous oxide abuse: neurological complications and biological findings
A rise in cases of nitrous oxide abuse: neurological complications and biological findings Open
View article: Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study
Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study Open
The MYOMEX study was a multicentre, randomised, double-blind, placebo-controlled, cross-over study aimed to compare the effects of mexiletine vs. placebo in patients with myotonia congenita (MC) and paramyotonia congenita (PC). The primary…
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: Comparison of Corticosteroid Tapering Regimens in Myasthenia Gravis
Comparison of Corticosteroid Tapering Regimens in Myasthenia Gravis Open
ClinicalTrials.gov Identifier: NCT00987116.