Mots-clés
![]() étude de cohorteSynonyme(s)cohort study ;étude d'échantillon ;étude de groupe ;sampling studies ;sampling study cohort studies |



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Early NIV is associated with accelerated lung function decline in Duchenne muscular dystrophy treated with glucocorticosteroids
Angliss ME, Sclip KD, Gauld L
BMJ open respiratory research, 2020, 7, 1
Revue : BMJ open respiratory research, 7, 1 Titre : Early NIV is associated with accelerated lung function decline in Duchenne muscular dystrophy treated with glucocorticosteroids Type de document : Article Auteurs : Angliss ME ; Sclip KD ; Gauld L Année de publication : 02/2020 Langues : Anglais (eng) Mots-clés : adolescent ; dystrophie musculaire de Duchenne ; étude de cohorte ; étude rétrospective ; respiration (macroscopique) ; stéroïde ; ventilation non invasive Pubmed / DOI : Pubmed : 32079608 / DOI : 10.1136/bmjresp-2019-000517
N° Profil MNM : 2020022 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32079608 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients
Molenaar JP, Verhoeven JI, Rodenburg RJ, et al.
Brain : a journal of neurology, 2020, 143, 2, p 452
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Clinical features of collagen VI-related dystrophies: A large Brazilian cohort
Zanoteli E, Soares PS, Silva AMSD, et al.
Clinical neurology and neurosurgery, 2020, 192
Revue : Clinical neurology and neurosurgery, 192 Titre : Clinical features of collagen VI-related dystrophies: A large Brazilian cohort Type de document : Article Auteurs : Zanoteli E ; Soares PS ; Silva AMSD ; Camelo CG ; Fonseca ATQSM ; Albuquerque MAV ; Moreno CAM ; Lopes Abath Neto O ; Novo Filho GM ; Kulikowski LD ; Reed UC Editeur : Netherlands Année de publication : 02/2020 Langues : Anglais (eng) Mots-clés : adulte ; Brésil ; collagénose ; corrélation génotype-phénotype ; diagnostic ; dystrophie musculaire ; dystrophie musculaire congénitale de type Ullrich ; enfant ; étude de cohorte ; famille ; gène COL6 ; histopathologie ; maladie neuromusculaire ; myopathie de Bethlem Pubmed / DOI : Pubmed : 32065942 / DOI : 10.1016/j.clineuro.2020.105734
N° Profil MNM : 2020022 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32065942 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy
Okubo M, Noguchi S, Hayashi S, et al.
Human genetics, 2020, 139, 2, p 247
Revue : Human genetics, 139, 2 Titre : Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy Type de document : Article Auteurs : Okubo M ; Noguchi S ; Hayashi S ; Nakamura H ; Komaki H ; Matsuo M ; Nishino I Editeur : Germany Année de publication : 02/2020 Pages : p 247 Langues : Anglais (eng) Mots-clés : Asie ; dystrophie musculaire ; dystrophie musculaire de Becker ; dystrophinopathie ; étude de cohorte ; Japon ; maladie neuromusculaire ; physiopathologie ; registre de malades ; saut d'exon Pubmed / DOI : Pubmed : 31919629 / DOI : 10.1007/s00439-019-02107-4
N° Profil MNM : 2020012 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31919629 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Transmission characteristics of SMN from 227 spinal muscular atrophy core families in China
Cao Y, Qu Y, Bai J, et al.
Journal of human genetics, 2020
Revue : Journal of human genetics Titre : Transmission characteristics of SMN from 227 spinal muscular atrophy core families in China Type de document : Article Auteurs : Cao Y ; Qu Y ; Bai J ; Cheng M ; Jin Y ; Wang H ; Song F Editeur : England Année de publication : 02/2020 Langues : Anglais (eng) Mots-clés : amyotrophie spinale ; amyotrophie spinale proximale liée à SMN1 ; Asie ; Chine ; corrélation génotype-phénotype ; étude de cohorte ; maladie du motoneurone ; maladie neuromusculaire Pubmed / DOI : Pubmed : 32051521 / DOI : 10.1038/s10038-020-0730-1
N° Profil MNM : 2020021 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32051521 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients
Shchagina OA, Milovidova TB, Murtazina AF, et al.
Molecular biology reports, 2020, 47, 2, p 1331
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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
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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
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Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen
Sansone VA, Pirola A, Albamonte E, et al.
The Journal of pediatrics, 2020
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Dystrophie musculaire de Becker : les troubles neuro-développementaux et psychiatriques sont loin d’être rares
Urtizberea JA
2020
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Endormissement diurne et fatigue sont particulièrement fréquents dans la maladie de Steinert
Urtizberea JA
2020
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Airway abnormalities in very early treated infantile-onset Pompe disease: A large-scale survey by flexible bronchoscopy
Yang CF, Niu DM, Tai SK, et al.
American Journal of Medical Genetics Part A, 2020
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Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A
Wang H, Davison M, Wang K, et al.
Annals of clinical and translational neurology, 2020, 7, 1, p 69
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Statin-induced anti-HMGCR myopathy: successful therapeutic strategies for corticosteroid-free remission in 55 patients
Meyer A, Troyanov Y, Drouin J, et al.
Arthritis research & therapy, 2020, 22, 1, p 5
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Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients
Bonanno S, Marcuzzo S, Malacarne C, et al.
Biomedicines, 2020, 8, 2
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Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I
Danhelovska T, Kolarova H, Zeman J, et al.
BMC Pediatrics, 2020, 20, 1, p 41
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Left ventricular dysfunction in Duchenne muscular dystrophy
James KA, Gralla J, Ridall LA, et al.
Cardiology in the young, 2020
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A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism
Meinke P, Kerr ARW, Czapiewski R, et al.
EBiomedicine, 2020, 51
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TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy
Spitali P, Zaharieva I, Böhringer S, et al.
European journal of human genetics : EJHG, 2020
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The impact of exome sequencing on the diagnostic yield of muscular dystrophies in consanguineous families
Dardas Z, Swedan S, Al-Sheikh Qassem A, et al.
European journal of medical genetics, 2020
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Serious infections in patients with myasthenia gravis: population-based cohort study
Kassardjian CD, Widdifield J, Paterson JM, et al.
European journal of neurology, 2020
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Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature
Khan AA, Case LE, Herbert M, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2020
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Neutrophil dysregulation is pathogenic in idiopathic inflammatory myopathies
Seto NL, Torres-Ruiz JJ, Carmona-Rivera C, et al.
JCI insight, 2020
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Real-world outcomes of long-term prednisone and deflazacort use in patients with Duchenne muscular dystrophy: experience at a single, large care center
Marden JR, Freimark J, Yao Z, et al.
Journal of comparative effectiveness research, 2020
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Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study
Mercuri E, Muntoni F, Osorio AN, et al.
Journal of comparative effectiveness research, 2020
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