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Avancées dans l'amyotrophie spinale proximale liée à SMN1
Myoinfo (AFM-Téléthon), Lefebvre S, André C
Avancées de la recherche, Savoir & Comprendre, 2020, 52 p
Avancées dans les dystrophies musculaires d'Emery-Dreifuss
Myoinfo (AFM-Téléthon), Bonne G, Ben Yaou R
Avancées de la recherche, Savoir & Comprendre, 2020, 10 p
Avancées dans la myopathie facio-scapulo-humérale
Myoinfo (AFM-Téléthon), Dumonceaux J
Avancées de la recherche, Savoir & Comprendre, 2020, 19 p
Is prophylactic formal fusion with implant revision necessary in non-ambulatory children with spinal muscular atrophy and growing rods who are no longer lengthened?
Hanna R, Sharafinski M, Patterson K, et al.
Spine deformity, 2020, 8, 3, p 547
Emerging PD-1 and PD-1L inhibitors-associated myopathy with a characteristic histopathological pattern
Matas-Garcia A, Milisenda JC, Selva-O'Callaghan A, et al.
Autoimmunity reviews, 2020, 19, 2
Myotonic dystrophy type 1 accompanied with normal pressure hydrocephalus: a case report and literature review
Wang J, Liu M, Shang W, et al.
BMC neurology, 2020, 20, 1, p 53
Hypoglycemia in patients with congenital muscle disease
Hayes LH, Yun P, Mohassel P, et al.
BMC Pediatrics, 2020, 20, 1, p 57
Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese
Lee HH, Wong S, Sheng B, et al.
Clinical genetics, 2020
Growth assessment and weight management in paediatric neuromuscular clinics: a cross-sectional survey across Canada
McPherson AC, Amin R, McAdam L, et al.
Disability and rehabilitation, 2020
Myopathy reversion in mice after restauration of mitochondrial complex I
Pereira CV, Peralta S, Arguello T, et al.
EMBO Molecular Medicine, 2020, 12, 2
The clinical spectrum of BICD2 mutations
Frasquet M, Camacho A, Vilchez R, et al.
European journal of neurology, 2020
A Prospective, Crossover Survey Study of Child- and Proxy-Reported Quality of Life According to Spinal Muscular Atrophy Type and Medical Interventions
Weaver MS, Hanna R, Hetzel S, et al.
Journal of child neurology, 2020
Transforaminal lumbar puncture for intrathecal access: Case series with literature review and comparison to other techniques
Velayudhan V, Patel S, Danziger A, et al.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia, 2020, 72, p 114
Scoliosis Surgery Significantly Impacts Motor Abilities in Higher-functioning Individuals with Spinal Muscular Atrophy
Dunaway-Young S, Montes J, Salazar R, et al.
Journal of Neuromuscular Diseases, 2020
Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families
Ullah A, Zubaida B, Cheema HA, et al.
Journal of pediatric endocrinology & metabolism : JPEM, 2020
Evaluation of body composition as a potential biomarker in spinal muscular atrophy
Baranello G, De Amicis R, Arnoldi MT, et al.
Muscle & Nerve, 2020
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores
Fridman V, Sillau S, Acsadi G, et al.
Neurology, 2020
Improving specialised care for neuromuscular patients reduces the frequency of preventable emergency hospital admissions
Scalco RS, Quinlivan RM, Nastasi L, et al.
Neuromuscular disorders : NMD, 2020, p 173
Risk Factors for Cardiac and Non-cardiac Causes of Death in Males with Duchenne Muscular Dystrophy
Wittlieb-Weber CA, Knecht KR, Villa CR, et al.
Pediatric cardiology, 2020
Effect of mechanical insufflation-exsufflation in children with neuromuscular weakness
Veldhoen ES, Verweij-van den Oudenrijn LP, Ros LA, et al.
Pediatric pulmonology, 2020, 55, 2, p 510
Mixed methods analysis of Health-Related Quality of Life in ambulant individuals affected with RYR1-related myopathies pre-post-N-acetylcysteine therapy
Capella-Peris C, Cosgrove MM, Chrismer IC, et al.
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation, 2020
Time-to-death in chronic respiratory failure on home mechanical ventilation: A cohort study
Schwarz EI, Mackie M, Weston N, et al.
Respiratory medicine, 2020, 162
Factors associated with the type of mask used during nocturnal NIV in patients with neuromuscular disorders
Leotard A, Lebret M, Prigent H, et al.
Revue des maladies respiratoires, 2020, 37, 2, p 99
The reliability of immunoassays to detect autoantibodies in patients with myositis is dependent on autoantibody specificity
Tansley SL, Li D, Betteridge ZE, et al.
Rheumatology (Oxford, England), 2020
