Results 141 to 150 of about 11,333 (226)

Nusinersen en el tratamiento de la atrofia muscular espinal: experiencia en Pediatría del Hospital Universitario Río Hortega [PDF]

, 2019
La atrofia muscular espinal (AME) es una enfermedad neurodegenerativa que conlleva una pérdida de fuerza progresiva e hipotonía. Se trata de una enfermedad genética debida a mutaciones en el gen SMN1, lo que ocasiona un déficit de la proteína de ...
Torío Salvador, Marina
core  

Bicalutamide and Trehalose Ameliorate Spinal and Bulbar Muscular Atrophy Pathology in Mice. [PDF]

Neurotherapeutics, 2023
Galbiati M, Meroni M, Boido M, Cescon M, Rusmini P, Crippa V, Cristofani R, Piccolella M, Ferrari V, Tedesco B, Casarotto E, Chierichetti M, Cozzi M, Mina F, Cicardi ME, Pedretti S, Mitro N, Caretto A, Risè P, Sala A, Lieberman AP, Bonaldo P, Pennuto M, Vercelli A, Poletti A.   +24 more
europepmc   +1 more source

Molecular basis of androgen insensitivity [PDF]

, 1996
Boehmer, A.L.M. (Annemie), Brinkmann, A.O. (Albert), Brüggenwirth, H.T. (Hennie), Jenster, G.W. (Guido), Korput, H.A.G.M. (Hetty) van der, Ris-Stalpers, C. (Carolyn), Trapman, J. (Jan)   +6 more
core   +1 more source

Advancing Epidemiology and Genetic Approaches for the Treatment of Spinal and Bulbar Muscular Atrophy: Focus on Prevalence in the Indigenous Population of Western Canada. [PDF]

Genes (Basel), 2023
Wilton-Clark H, Al-Aghbari A, Yang J, Yokota T, Yokota T.   +4 more
europepmc   +1 more source

Chiari malformation type I with cervicothoracic syringomyelia masquerading as bibrachial amyotrophy: a case report [PDF]

, 2015

core   +1 more source

Kennedy's disease (bulbar and spinal muscular atrophy) [PDF]

Neurologie pro praxi, 2016
openaire   +1 more source

J wave syndromes in patients with spinal and bulbar muscular atrophy. [PDF]

J Neurol, 2022
Steinmetz K, Rudic B, Borggrefe M, Müller K, Siebert R, Rottbauer W, Ludolph A, Buckert D, Rosenbohm A.   +8 more
europepmc   +1 more source

International Survey on Genetic Literacy and Awareness in Patients With Spinal and Bulbar Muscular Atrophy. [PDF]

Neurol Genet
Yamada S, Hashizume A, Ito D, Kishimoto Y, Komori S, Kawase T, Kondo A, Kiya Y, Nakatsuji H, Suzuki Y, Tako Y, Hamada Y, Slowe K, Thompson KA, Thompson T, Katsuno M.   +15 more
europepmc   +1 more source

Neuromuscular junction pathology is correlated with differential motor unit vulnerability in spinal and bulbar muscular atrophy. [PDF]

Acta Neuropathol Commun, 2022
Molotsky E, Liu Y, Lieberman AP, Merry DE.   +3 more
europepmc   +1 more source

Bone Fragility and Fracture Characteristics in Patients With Spinal and Bulbar Muscular Atrophy. [PDF]

Eur J Neurol
Kawase T, Yamada S, Kishimoto Y, Ito D, Komori S, Kondo A, Iida M, Kawashima I, Takegami Y, Hashizume A, Imagama S, Katsuno M.   +11 more
europepmc   +1 more source