Results 131 to 140 of about 6,741 (226)

Erratum to: Body Mass Index is Inversely Correlated with the Expanded CAG Repeat Length in SCA3/MJD Patients [PDF]

, 2012
Jonas Alex Morales Saute, Andrew Chaves Feitosa da Silva, Gabriele Nunes Souza, Aline Dutra Russo, Karina Carvalho Donis, Leonardo Vedolin, Maria Luiza Saraiva Pereira, Luis Valmor Portela, Laura Bannach Jardim   +8 more
openalex   +1 more source

Tracking Machado-Joseph disease (MJD): identification of prodromal and early disease molecular biomarkers

Tese de Doutoramento, Biologia, 11 de novembro de 2022, Universidade dos Açores.A doença de Machado-Joseph (DMJ) é uma doença neurodegenerativa de poliglutamina (poliQ) rara, causada pela expansão de uma repetição CAG no gene ATXN3 que codifica a ...
Ferreira, Ana Filipa Bartolomeu
core  

Discovery of Short-term γ-Ray Pulsed Radiation Variations Following a Glitch in PSR J0205+6449

The Astrophysical Journal Letters
Rotation-powered pulsars exhibit stable emission characteristics most of the time. However, their radiative state can vary with the sudden changes of rotational state, such as glitches. To date, pulsed radiation changes associated with glitches have only
Wen-Tao Ye, Ming-Yu Ge, Shi-Jie Zheng, Xiang Ma, Yu-Jia Zheng, Han-Long Peng, Xue-Zhi Liu, Li-Ming Song, Shuang-Nan Zhang, Fang-Jun Lu   +9 more
doaj   +1 more source

The Powerhouse of the Cell: Investigating Mitochondrial Dysfunction in MJD & ALS

Finalist - Visualise Your Thesis 2025 International ...
openaire   +1 more source

Investigating the pathogenic role of calpain proteases and the therapeutic potential of their inhibition in mice modelling Machado-Joseph disease. [PDF]

Hum Mol Genet
Robinson KJ, Wright AL, Watchon M, Kuriakose A, Simo I, Laird AS.   +5 more
europepmc   +1 more source

Multiparameter design optimisation of a mud-based natural draft biomass cookstove using response surface methodology and desirability function. [PDF]

Sci Rep
Gupta A, Wathore R, Hedaoo R, Bherwani H, Dhoble AS, Labhasetwar N.   +5 more
europepmc   +1 more source

Circadian rhythms are disrupted in patients and preclinical models of Machado-Joseph disease. [PDF]

Brain
Ribeiro RFN, Pereira D, Lopes SM, Reis T, Silva P, Lobo DD, Gaspar LS, Durães J, Fernandes AR, Ferreira-Marques M, Carvalhas-Almeida C, Peça J, Álvaro AR, Santana I, Santana MM, Silva MMC, Pereira de Almeida L, Cavadas C.   +17 more
europepmc   +1 more source

Neural MJD: Neural Non-Stationary Merton Jump Diffusion for Time Series Prediction [PDF]

Gao, Yuanpei, Yan Qi, Yan Leng, Renjie Liao   +3 more
openalex   +1 more source

Molecular hallmarks of neurodegeneration in polyglutamine spinocerebellar ataxias. [PDF]

Cell Death Dis
Nóbrega C, Marcelo A, Rajado AT, Conceição A, Estevam B, Matos CA, Brito DV, Afonso IT, Codêsso JM, Koppenol R, Costa RG, Afonso-Reis R, Paulino R, Moreira-Gomes T.   +13 more
europepmc   +1 more source

Caracterização de NESC derivadas de iPSC de doentes com MJD silenciadas para a ataxina-3 mutante

Dissertação de Mestrado em Investigação Biomédica apresentada à Faculdade de MedicinaA doença de Machado-Joseph (DMJ) é uma doença neurodegenerativa rara, caracterizada por morte neuronal, levando à falta de coordenação dos movimentos musculares ...
Machado, Mariana Filipa Pereira
core