Results 71 to 80 of about 1,633 (173)

Infantile and early childhood onset of mitochondrial myopathy due to mutations in the TK2 gene with a phenotype of spinal muscular atrophy 5q: the first cases in Russia

, 2019
С. В. Курбатов, Polina G. Tsygankova, K. Yu. Mollaeva, Igor Bychkov, Yu. S. Itkis, В. В. Забненкова, Z. R. Umakhanova, L. G. Geybatova, Ekaterina Zakharova   +8 more
openalex   +2 more sources

Pontocerebellar Hypoplasia Type 1 and Associated Neuronopathies. [PDF]

Genes (Basel)
Škarica M, Acsadi G, Živković SA.
europepmc   +1 more source

Hirayama Disease in a Young Male: A Case Report. [PDF]

JNMA J Nepal Med Assoc
Paudel S, Rokaha PS, Rokaha PS, Karki L, Thapa P.   +4 more
europepmc   +1 more source

Nusinersen versus sham control in later-onset spinal muscular atrophy [PDF]

, 2018
Connolly, A. M., et al,
core   +1 more source

Childhood spinal muscular atrophy and stem cell research: Is cellular replacement therapy the answer? (Review)

, 2008
Pablo Young
openalex   +2 more sources

Neurodevelopmental and mental disorders in children with type I and presymptomatic spinal muscular atrophy. [PDF]

Sci Rep
Buchignani B, Coratti G, Cutrì C, Scattoni ML, Pane M, Palermo C, Leone D, De Sanctis R, Stanca G, Antonaci L, Cutrona C, Pera MC, Brogna C, Cristofani P, Fulceri F, Baranello G, Mercuri E.   +16 more
europepmc   +1 more source

Frequency and satisfaction of conventional and complementary or alternative therapies for neuromuscular disorders. [PDF]

Neurol Res Pract, 2023
Böhne LÄ, Wirner C, Schoser B, Schröter C, Baum P.   +4 more
europepmc   +1 more source

Anesthetic management of a patient with spinal muscular atrophy type II for scoliosis surgery: a case report. [PDF]

BMC Anesthesiol
Chen Z, Chen X, Liang X, Niu Q, Chan Y, Xu X.   +5 more
europepmc   +1 more source

Risdiplam treatment following onasemnogene abeparvovec in individuals with spinal muscular atrophy: a multicenter case series. [PDF]

BMC Neurol
Svoboda MD, Kuntz N, Leon-Astudillo C, Byrne BJ, Krueger J, Kwon JM, Sieburg C, Castro D.   +7 more
europepmc   +1 more source

A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study. [PDF]

Lancet Reg Health West Pac
Balaji L, Forbes R, Cairns A, Sampaio H, Kornberg AJ, Sanders L, Lamont P, Liang C, Jones KJ, Nowak K, O'Gorman C, Woodcock I, Briggs N, Yiu EM, Farrar MA, Kariyawasam D.   +15 more
europepmc   +1 more source