Guillaume Bassez

Guillaume Bassez
Hôpital Henri Mondor (Hôpitaux Universitaires Henri Mondor) · Centre de Reference maladies neuromusculaires

About

88
Publications
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1,372
Citations
Citations since 2016
43 Research Items
684 Citations
2016201720182019202020212022020406080100
2016201720182019202020212022020406080100
2016201720182019202020212022020406080100
2016201720182019202020212022020406080100

Publications

Publications (88)
Article
Neuromuscular disorders (NMD) are characterized by progressive muscle weakness leading to dramatic impairments in functional capacities and quality of life. A new class of promising lightweight lower-limb wearable powered exoskeletons is currently emerging. However, data regarding the potential of such devices in patients with NMD are scarce. Withi...
Article
Neuromuscular disorders (NMD) are characterized by progressive muscle weakness leading to dramatic impairments in functional capacities and quality of life. A new class of promising lightweight lower-limb wearable powered exoskeletons is currently emerging. However, data regarding the potential of such devices in patients with NMD are scarce. Withi...
Article
Objective Despite a wide clinical spectrum, the adult form of Pompe disease is the most common one, and represents more than 90% of diagnosed patients in France. Since the marketing of enzyme replacement therapy (alglucosidase alfa, Myozyme®), all reports to date in adults demonstrated an improvement of the walking distance, and a trend toward stab...
Article
Introduction: Brody myopathy (BM) is a recessive condition caused by mutations in the ATP2A1 gene and usually induces impaired muscle relaxation during and after exercise. Diagnosis relies on needle electromyography showing electrical silence, muscle biopsy with decreased sarcoplasmic reticulum Calcium ATPase activity and genetic analysis. Electro...
Article
Full-text available
Objective To study scapular winging or other forms of scapular dyskinesis (condition of alteration of the normal position and motion of the scapula) in myotonic dystrophy type 1 (DM1), which is generally considered to be a distal myopathy, we performed an observational cohort study. Methods We performed a prospective cohort study on the clinical f...
Article
Introduction Les syndromes myotoniques (SM) sont des maladies génétiques qui englobent deux formes : la myotonie dystrophique, caractérisée notamment par un affaiblissement musculaire progressif (dystrophie), une difficulté au relâchement des muscles (myotonie) et une diminution du volume musculaire (atrophie) et la myotonie non dystrophique caract...
Article
Full-text available
Myoglobin, encoded by MB, is a small cytoplasmic globular hemoprotein highly expressed in cardiac myocytes and oxidative skeletal myofibers. Myoglobin binds O2, facilitates its intracellular transport and serves as a controller of nitric oxide and reactive oxygen species. Here, we identify a recurrent c.292C>T (p.His98Tyr) substitution in MB in fou...
Article
Myotonic dystrophy type 1 (DM1) is a dominant multisystemic disorder associated with high variability of symptoms and anticipation. DM1 is caused by an unstable CTG repeat expansion that usually increases in successive generations and tissues. DM1 family pedigrees have shown that ∼90% and 10% of transmissions result in expansions and contractions o...
Article
Background The risk for venous thromboembolism (VTE) in inherited myopathies, which can lead to chronic immobilization, is unknown. Purpose To evaluate incidence of VTE in inherited myopathies, including for patients who lost ambulation, to compare it to incidence of VTE in general population and to identify predictors of VTE events in inherited m...
Article
Full-text available
Background: In myotonic dystrophy type 1, the association between mutation size (CTG expansion) and the severity of cardiac involvement is controversial. Methods and results: We selected 855 patients with myotonic dystrophy type 1 (women, 51%; median age, 37 years), with genetic testing performed at the moment of their initial cardiac evaluation...
Article
Background: The efficacy of enzyme replacement therapy (ERT) in patients at an advanced stage of Pompe disease has only been addressed in a few studies. Our objective was to assess the long term effects of ERT in a cohort of patients with severe Pompe disease. Methods: We identified patients from the French Pompe Registry with severe respiratory...
Article
The broad clinical spectrum of myotonic dystrophy type 1 (DM1) creates particular challenges for both medical care and design of clinical trials. Clinical onset spans a continuum from birth to late adulthood, with symptoms that are highly variable in both severity and nature of the affected organ systems. In the literature, this complex phenotype i...
Article
Introduction: Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare, treatable, beta-oxidation disorder responsible for neuromuscular symptoms in adults. This case series describes the clinical and biochemical features of 13 French patients with late-onset MADD. Methods and results: Thirteen ambulant patients (eight women, five...
Article
Full-text available
To build a questionnaire to assess health-related quality of life (HRQL) in patients suffering from slowly progressive neuromuscular disease (NMD) using item response theory (IRT). A pool of 64 items and a validated questionnaire (WHOQOL-BREF) were administered to 159 patients recruited in eight NMD referral centers. Exploratory statistical analysi...
Article
Full-text available
Background: Myotonic dystrophy type 1 (DM1) is a rare, inherited chronic progressive disease as well as an autosomal dominant multi-systemic disorder. It is probably one of the most common adult forms of muscular dystrophy, with a prevalence of approximately 10 per 100,000 people affected. With 733 million people in Europe, we estimate that 75,000...
Conference Paper
Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease for which treatments are being developed. There is a need to define reliable and reproducible criteria to evaluate neuromuscular function in order to assess their effects. The main aim of our study consists of a follow-up of the natural history of DM1 patients over 3 years. Here, base...
Article
Myotonic dystrophy (DM) is a highly variable multisystemic genetic disease and the commonest muscular dystrophy in adults. Such temporal and phenotypic variability poses particular challenges for clinical management and research. By collecting patient data, registries constitute fundamental tools to increase knowledge on rare diseases and to promot...
Article
Myotonic dystrophy (DM) encompasses two gene defects, DM1 (myotonic dystrophy type 1) being currently the sole disorder leading to a childhood form of the disease. As consequence of the non coding unstable CTG repeat expansion mutation, DM1 presents as an extremely wide and diverse clinical continuum ranging from antenatal to late adult forms, the...
Article
Fatigue frequently occurs in myotonic dystrophy type 1 (DM1), but its pathophysiology remains unclear. This study assessed central and peripheral components of exercise-related fatigability in patients with DM1, compared to controls. Examinations were performed before and after a contraction of the abductor digiti minimi (ADM) muscle sustained for...
Article
Myotonic dystrophy (DM) is the commonest muscular dystrophy in adults and the most variable neuromuscular disorder. Such variability together with multisystemic involvement creates particular challeng...
Article
Congenital myasthenic syndromes (CMS) show great genetic heterogeneity. Diagnosis is difficult and management often challenging leading to severe and even life-threatening complications, but may respond to a number of available drugs. We describe a case of a girl born with congenital talipes that was hospitalized at 21 days due to fever and dyspnea...
Article
Full-text available
Patients with cervical or mediastinal Hodgkin disease (HD) classically underwent chemotherapy plus extended-field radiation therapy. We report six patients who gradually developed severe atrophy and weakness of cervical paraspinal and shoulder girdle muscles 5-30 years after mantle irradiation for HD. Although clinical presentation was uniform, inc...
Article
The neuromuscular spindle (NMS) is a proprioceptive myofibrillar component of skeletal muscles that is necessary to maintain normal muscle tone and coordination. Recently, an excess of NMS has been reported as a congenital neuromuscular syndrome with a Noonan phenotype, now linked to Costello syndrome (CS). The vast majority of patients with CS hav...
Article
Full-text available
The goal of this study was to assess the changes of water diffusion during contraction and elongation of calf muscles using diffusion tensor (DT) MRI in normal volunteers. Twenty volunteers (mean age, 29+/-4 years) underwent DT MRI examination of the right calf. Echo planar imaging sequence was performed at rest, during dorsal flexion and during pl...
Article
Les cellules satellites sont des cellules myogéniques souches situées sous la lame basale de la fibre musculaire. Cette étude a pour but de montrer des caractéristiques jusqu’à présent non décrites des cellules satellites, c’est-à-dire leur proximité anatomique et fonctionnelle vis-à-vis des capillaires. L’étude de la répartition spatiale montre un...
Article
In the publication of this article, the name of co-author Rabah Ben Yaou was inadvertently omitted. His affiliation is INSERM U582-Institut de Myologie, Hopital Pitie-Salpetriere, Paris, France.
Article
Cardiac tachyarrhythmias have rarely been studied in young patients with myotonic dystrophy type 1 (DM1). The authors observed major cardiac rhythm disturbances in 11 patients aged 10 to 18 years. Tachyarrhythmic events were more frequent than impulse conduction disorders. Wide variations in CTG expansion were observed among the population. Since p...
Article
Centronuclear myopathy (CNM) is a congenital myopathy characterized by chains of centrally located nuclei in a large number of muscle fibers. Clinically, an early-onset form was reported in several autosomal-recessive (AR) families and many sporadic patients, whereas a late-onset form was found in most autosomal-dominant (AD) families. The boundary...
Article
Muscle biopsy findings in DM2 have been reported to be similar to those in DM1. The authors used myosin heavy chain immunohistochemistry and enzyme histochemistry for fiber type differentiation on muscle biopsies. Their results show that DM2 patients display a subpopulation of type 2 nuclear clump and other very small fibers and, hence, preferentia...
Article
Hepatitis C virus (HCV)-associated neuropathy is usually associated with mixed cryoglobulinemia (MC) and vasculitis. MC may contain viral RNA, and tissues showing vasculitis may contain intracellular HCV. Local HCV replication remains to be evidenced. To delineate the spectrum of HCV-associated neuropathy and to assess the presence of HCV in nerve...
Article
Prenatal thrombocytopenia is a rare event and is generally due to fetal infection. In very rare cases, fetal thrombocytopenia is induced by maternal IgG directed against the fetal platelets. This alloimmunisation could lead to in utero bleeding. We now report such a case, in which fetal thrombocytopenia was complicated by a huge temporal lobe haema...
Article
We report 13 French patients with proximal myotonic myopathy. PROMM is a recently delineated multisystem disorder with dystrophic myopathy, myotonia and cataracts. This syndrome is genetically distinct from myotonic dystrophy (DM) by the absence of abnormal CTG repeat expansion. The geographical origin varies but 4 families originated from Poland....
Conference Paper
https://www.researchgate.net/publication/277680550_Construction_of_a_Quality_of_Life_Questionnaire_for_Patients_Suffering_from_Slowly-Progressive_Neuromuscular_Disease

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