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Dowling JJ ; Lawlor MW ; Das S | 23/08/2018Initial Posting: February 25, 2002; Last Update: August 23, 2018. Clinical characteristics. X-linked myotubular myopathy (X-MTM), also known as myotubular myopathy (MTM), is characterized by muscle weakness that ranges from severe to mild. [...]Article
Weber F ; Lehmann-Horn F | 26/07/2018Initial Posting: April 30, 2002; Last Update: July 26, 2018. Clinical characteristics. Hypokalemic periodic paralysis (hypoPP) is a condition in which affected individuals may experience paralytic episodes with concomitant hypokalemia (ser[...]Article
Wang J ; El-Hattab AW | 26/07/2018Initial Posting: December 6, 2012; Last Update: July 26, 2018. Clinical characteristics. TK2-related mitochondrial DNA (mtDNA) maintenance defect is a phenotypic continuum that ranges from severe to mild. To date, approximately 107 individua[...]Article
Comment in: Cataract development associated with long-term glucocorticoid therapy in Duchenne muscular dystrophy patients. [J AAPOS. 2018] Reply. [J AAPOS. 2018]Article
Schoser B, Auteur | 30/03/2018Comment on: Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain. [Dev Med Child Neurol. 2018]Article
Ebbink BJ, Auteur ; Poelman E ; Aarsen FK ; Plug I ; Régal L ; Muentjes C ; van der Beek NAME ; Lequin MH ; van der Ploeg AT ; van den Hout JMP | 24/03/2018Comment in: Novel Pompe disease phenotype: a treatment-related modified phenotype neglecting the brain. [Dev Med Child Neurol. 2018]Article
Epigenomics Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients
Catapano F, Auteur ; Domingos J ; Perry M ; Ricotti V ; Phillips L ; Servais L ; Seferian A ; Groot I ; Krom YD ; Niks EH ; Verschuuren JJ ; Straub V ; Voit T ; Morgan J ; Muntoni F | 22/03/2018Article
Hahn SH, Auteur ; Kronn D ; Leslie ND ; Pena LDM ; Tanpaiboon P ; Gambello MJ ; Gibson JB ; Hillman R ; Stockton DW ; Day JW ; Wang RY ; An Haack K ; Shafi R ; Sparks S ; Zhao Y ; Wilson C ; Kishnani PS | 22/03/2018Article
van der Meijden JC, Auteur ; Kruijshaar ME ; Harlaar L ; Rizopoulos D ; van der Beek NAME ; van der Ploeg AT | 19/03/2018Article
Leborgne C, Auteur ; Latournerie V ; Boutin S ; Desgue D ; Quéré A ; Pignot E ; Collaud F ; Charles S ; Simon-Sola M ; Masat E ; Jouen F ; Boyer O ; Masurier C ; Mingozzi F ; Veron P | 16/03/2018Article
Sellers SL ; Milad N ; White Z ; Pascoe C ; Chan R ; Payne GW ; Seow C ; Rossi F ; Seidman MA ; Bernatchez P | 02/2018Brève
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Schreiber A, Auteur ; Brochard S ; Rippert P ; Fontaine-Carbonnel S ; Payan C ; Poirot I ; Hamroun D ; Vuillerot C | 2018Comment in: Outcome measures in Duchenne muscular dystrophy: sensitivity to change, clinical meaningfulness, and implications for clinical trials. [Dev Med Child Neurol. 2018]Article
Domingos J, Auteur ; Muntoni F | 2018Comment on: Corticosteroids in Duchenne muscular dystrophy: impact on the motor function measure sensitivity to change and implications for clinical trials. [Dev Med Child Neurol. 2018]Article
Broomfield A, Auteur ; Fletcher J ; Hensman P ; Wright R ; Prunty H ; Pavaine J ; Jones SA | 2018Article
Basile I, Auteur ; Da Silva A ; El Cheikh K ; Godefroy A ; Daurat M ; Harmois A ; Perez M ; Caillaud C ; Charbonné HV ; Pau B ; Gary-Bobo M ; Morere A ; Garcia M ; Maynadier M | 2018Article
Lancet (London, England), 391, 10119. How glucocorticoids change life in Duchenne muscular dystrophy
Goemans N, Auteur | 2018Comment on: Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study. [Lancet. 2018]Article
McDonald CM, Auteur ; Henricson EK ; Abresch RT ; Duong T ; Joyce NC ; Hu F ; Clemens PR ; Hoffman EP ; Cnaan A ; Gordish Dressman H | 2018Comment in: How glucocorticoids change life in Duchenne muscular dystrophy. [Lancet. 2018]Article
McIntosh PT, Auteur ; Hobson-Webb LD ; Kazi ZB ; Prater SN ; Banugaria SG ; Austin S ; Wang R ; Enterline DS ; Frush DP ; Kishnani PS | 2018