Results 71 to 80 of about 485 (123)

Glosarium Kedokteran [PDF]

, 2005
Hardaniwati, Menuk, Latief, A., Wonodirekso, Sugito   +2 more
core  

Atrofia muscular bulbo espinhal recessiva ligada ao cromossomo X (doença de Kennedy): estudo de uma família [PDF]

Andrade LEC, Bates GP, Belsham DD, Brinkmann A, Brooks BP, Brzustowicz LM, DAMACIO RAMÓN KAIMEN-MACIEL, Ferlini A, Ferron E, Fischbeck KH, GIORGE RIBEIRO KELIAN, Goldenberg JN, Kennedy WR, La Spada AR, LUIS SIDONIO TEIXEIRA DA SILVA, MILTON MEDEIROS, MÔNICA MARCOS DE SOUZA, Parboosingh JS, Plassart E, Rubinztein DC, SALMO RASKIN, Seefeld M, Singer RH, Timchenko LT, VALTER CLÍMACO   +24 more
core   +1 more source

Neuromuscular junction transcriptome analysis of spinal and bulbar muscular atrophy mice implicates sarcomere gene expression and calcium flux dysregulation in disease pathogenesis. [PDF]

Hum Mol Genet
Gromova A, Cha B, Nguyen N, Garg D, Coscolluela C, Strickland LM, Luong D, Longo F, Sopher BL, ElMallah MK, La Spada AR.   +10 more
europepmc   +1 more source

Polyglutamine expansion induced dynamic misfolding of androgen receptor. [PDF]

Protein Sci
Heling LWHJ, Sheikhhassani V, Ng J, van Vliet M, Jiménez-Panizo A, Alegre-Martí A, Woodard J, van Roon-Mom W, McEwan IJ, Estébanez-Perpiñá E, Mashaghi A.   +10 more
europepmc   +1 more source

Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients. [PDF]

Int J Mol Sci, 2021
Malacarne C, Galbiati M, Giagnorio E, Cavalcante P, Salerno F, Andreetta F, Cagnoli C, Taiana M, Nizzardo M, Corti S, Pensato V, Venerando A, Gellera C, Fenu S, Pareyson D, Masson R, Maggi L, Dalla Bella E, Lauria G, Mantegazza R, Bernasconi P, Poletti A, Bonanno S, Marcuzzo S.   +23 more
europepmc   +1 more source

Targeting androgen receptor stability and degradation: approaches for developing a therapy for spinal and bulbar muscular atrophy. [PDF]

Cell Commun Signal
Cristofani R, Tedesco B, Ferrari V, Chierichetti M, Cozzi M, Pramaggiore P, Cornaggia L, Mohamed A, Casarotto E, Brodnanova M, Magdalena R, Koshal P, Piccolella M, Crippa V, Galbiati M, Poletti A, Rusmini P.   +16 more
europepmc   +1 more source

Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity. [PDF]

Sci Adv, 2021
Lim WF, Forouhan M, Roberts TC, Dabney J, Ellerington R, Speciale AA, Manzano R, Lieto M, Sangha G, Banerjee S, Conceição M, Cravo L, Biscans A, Roux L, Pourshafie N, Grunseich C, Duguez S, Khvorova A, Pennuto M, Cortes CJ, La Spada AR, Fischbeck KH, Wood MJA, Rinaldi C.   +23 more
europepmc   +1 more source

Therapeutic targeting of the polyglutamine androgen receptor in Spinal and Bulbar Muscular Atrophy. [PDF]

Expert Opin Ther Targets
Sangotra A, Lieberman AP.
europepmc   +1 more source

Germline variant screening with targeted next generation sequencing in prostate cancer: phenotype-genotype correlation. [PDF]

Turk J Med Sci, 2022
Çakır AY, Hekimler Öztürk K, Özorak A.   +2 more
europepmc   +1 more source

A systematic review of the association between the age of onset of spinal bulbar muscular atrophy (Kennedy's disease) and the length of CAG repeats in the androgen receptor gene. [PDF]

eNeurologicalSci
Bellai DJ, Rae MG.
europepmc   +1 more source