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The Journal of clinical investigation |
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Defective lysosome reformation during autophagy causes skeletal muscle disease
McGrath MJ, Eramo MJ, Gurung R, et al.
The Journal of clinical investigation, 2020
Revue : The Journal of clinical investigation Titre : Defective lysosome reformation during autophagy causes skeletal muscle disease Type de document : Article Auteurs : McGrath MJ ; Eramo MJ ; Gurung R ; Sriratana A ; Gehrig SM ; Lynch GS ; Lourdes SR ; Koentgen F ; Feeney SJ ; Lazarou M ; McLean CA ; Mitchell CA Editeur : United States Année de publication : 29/10/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33119550 / DOI : 10.1172/JCI135124
N° Profil MNM : 2020111 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33119550 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Correction of muscular dystrophies by CRISPR gene editing
Chemello F, Bassel-Duby R, Olson EN
The Journal of clinical investigation, 2020, 130, 6, p 2766
Revue : The Journal of clinical investigation, 130, 6 Titre : Correction of muscular dystrophies by CRISPR gene editing Type de document : Article Auteurs : Chemello F ; Bassel-Duby R ; Olson EN Année de publication : 06/2020 Pages : p 2766 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32478678 / DOI : 10.1172/JCI136873
N° Profil MNM : 2020053 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32478678 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Complementopathies and precision medicine.
Gavriilaki E, Brodsky RA
The Journal of clinical investigation, 2020, 130, 5, p 2152
Revue : The Journal of clinical investigation, 130, 5 Titre : Complementopathies and precision medicine. Type de document : Article Auteurs : Gavriilaki E ; Brodsky RA Année de publication : 05/2020 Pages : p 2152 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32310222 / DOI : 10.1172/JCI136094
N° Profil MNM : 2020042 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32310222 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy
Sullivan JM, Motley WW, Johnson JO, et al.
The Journal of clinical investigation, 2020, 130, 3, p 1506
Revue : The Journal of clinical investigation, 130, 3 Titre : Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy Type de document : Article Auteurs : Sullivan JM, Auteur ; Motley WW ; Johnson JO ; Aisenberg WH ; Marshall KL ; Barwick KE ; Kong L ; Huh JS ; Saavedra-Rivera PC ; McEntagart MM ; Marion MH ; Hicklin LA ; Modarres H ; Baple EL ; Farah MH ; Zuberi AR ; Lutz CM ; Gaudet R ; Traynor BJ ; Crosby AH ; Sumner CJ Editeur : United States Année de publication : 03/2020 Pages : p 1506 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32065591 / DOI : 10.1172/JCI128152
N° Profil MNM : 2020022 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32065591 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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KBTBD13 and the ever-expanding sarcomeric universe
Campbell SG, Niederer SA
The Journal of clinical investigation, 2020, 130, 2, p 593
Revue : The Journal of clinical investigation, 130, 2 Titre : KBTBD13 and the ever-expanding sarcomeric universe Type de document : Article Auteurs : Campbell SG ; Niederer SA Editeur : United States Année de publication : 02/2020 Pages : p 593 Langues : Anglais (eng) Mots-clés : gène KBTBD13 ; lettre ; maladie neuromusculaire ; myopathie congénitale ; physiopathologie ; protéine KBTBD13 Pubmed / DOI : Pubmed : 31904591 / DOI : 10.1172/JCI132954
N° Profil MNM : 2020012 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31904591 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy
Bengoechea R, Findlay AR, Bhadra AK, et al.
The Journal of clinical investigation, 2020, 130, 8, p 4470
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Dysfunctional polycomb transcriptional repression contributes to Lamin A/C dependent muscular dystrophy
Bianchi A, Mozzetta C, Pegoli G, et al.
The Journal of clinical investigation, 2020
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Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models
Morelli KH, Griffin LB, Pyne NK, et al.
The Journal of clinical investigation, 2019, 129, 12
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Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment
Ramos DM, d'Ydewalle C, Gabbeta V, et al.
The Journal of clinical investigation, 2019
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KBTBD13 is an actin-binding protein that modulates muscle kinetics
de Winter JM, Molenaar JP, Yuen M, et al.
The Journal of clinical investigation, 2019
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Better living through peptide-conjugated chemistry: next-generation antisense oligonucleotides
McNally EM, Leverson BD
The Journal of clinical investigation, 2019
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Peptide-conjugated oligonucleotides evoke long-lasting myotonic dystrophy correction in patient-derived cells and mice
Klein AF, Varela MA, Arandel L, et al.
The Journal of clinical investigation, 2019
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Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model
Zhou Y, Carmona S, Muhammad AKMG, et al.
The Journal of clinical investigation, 2019, 130, p 1756
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Blocking p62/SQSTM1-dependent SMN degradation ameliorates spinal muscular atrophy disease phenotypes
Rodriguez-Muela N, Parkhitko A, Grass T, et al.
The Journal of clinical investigation, 2018
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Androgen receptor polyglutamine expansion drives age-dependent quality control defects and muscle dysfunction
Nath SR, Yu Z, Gipson TA, et al.
The Journal of clinical investigation, 2018
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Antisense oligonucleotides offer hope to patients with Charcot-Marie-Tooth disease type 1A
Shy ME
The Journal of clinical investigation, 2018, 128, 1, p 110
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PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models
Zhao HT, Damle S, Ikeda-Lee K, et al.
The Journal of clinical investigation, 2018, 128, 1, p 359
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Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I
Brockhoff M, Rion N, Chojnowska K, et al.
The Journal of clinical investigation, 2017, 127, 2, p 549
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Chimeric protein repair of laminin polymerization ameliorates muscular dystrophy phenotype
McKee KK, Crosson SC, Meinen S, et al.
The Journal of clinical investigation, 2017, 127, 3, p 1075
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Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity
Teveroni E, Pellegrino M, Sacconi S, et al.
The Journal of clinical investigation, 2017, 127, 4, p 1531
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POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking
Schindler RF, Scotton C, Zhang J, et al.
The Journal of clinical investigation, 2016, 126, 1, 239
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Blocking mitochondrial calcium release in Schwann cells prevents demyelinating neuropathies
Gonzalez S, Berthelot J, Jiner J, et al.
The Journal of clinical investigation, 2016, 126, 3, p 1023
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Estrogen-mediated downregulation of AIRE influences sexual dimorphism in autoimmune diseases
Dragin N, Bismuth J, Cizeron-Clairac G, et al.
The Journal of clinical investigation, 2016, 126, 4, p 1525
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PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models
Sabha N, Volpatti JR, Gonorazky H, et al.
The Journal of clinical investigation, 2016, 126, 9, p 3613
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Reengineering a transmembrane protein to treat muscular dystrophy using exon skipping
Gao QQ, Wyatt E, Goldstein JA, et al.
The Journal of clinical investigation, 2015, 125, 11, p 4186
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