|1|Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1. (25847462)
Rubboli G.... Michelucci R.
|2|Theory of mind, empathy and neuropsychological functioning in X-linked Spinal and Bulbar Muscular Atrophy: a controlled study of 20 patients. (25408365)
Di Rosa E.... Palmieri A.
|3|GEMINs: potential therapeutic targets for spinal muscular atrophy? (25360080)
Borg R.... Cauchi R.J.
|4|A novel evaluation method of survival motor neuron protein as a biomarker of spinal muscular atrophy by imaging flow cytometry. (25264200)
Arakawa M.... Nomoto A.
|5|A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. (24207122)
Sumner C.J.... Houlden H.
|6|A case report of extended neurogenic muscular atrophy related to SAPHO syndrome. (24158656)
Ye F.... Liu J.
|7|Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. (24162038)
Bladen C.L.... LochmA1ller H.
|8|Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling. (22490618)
Dobrowolski S.F.... Swoboda K.J.
|9|Antisense-based therapy for the treatment of spinal muscular atrophy. (23027901)
Rigo F.... Bennett C.F.
|10|Stem cells in severe infantile spinal muscular atrophy (SMA1). (23206851)
|11|Current status of treatment of spinal and bulbar muscular atrophy. (22720173)
Tanaka F.... Sobue G.
|12|SMN-inducing compounds for the treatment of spinal muscular atrophy. (23157239)
Lorson M.A.... Lorson C.L.
|13|Impaired mandibular function in spinal muscular atrophy type II: need for early recognition. (21596705)
van Bruggen H.W.... Steenks M.H.
|14|Detection of spinal muscular atrophy carriers in a sample of the Brazilian population. (21335981)
Bueno K.C.... Marques W.
|15|SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy. (21754985)
Kissel J.T.... Swoboda K.J.
|16|Reduced levels of survival motor neuron protein leads to aberrant motoneuron growth in a Xenopus model of muscular atrophy. (19517146)
Ymlahi-Ouazzani Q.... Pollet N.
|17|Rapid diagnosis of spinal muscular atrophy using tetra-primer ARMS PCR assay: simultaneous detection of SMN1 and SMN2 deletion. (20025960)
Baris I.... Arican-Baris S.T.
|18|Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy. (20869592)
Nedelsky N.B.... Taylor J.P.
|19|Compound muscle action potential and motor function in children with spinal muscular atrophy. (20737553)
Lewelt A.... Swoboda K.J.
|20|Spinal muscular atrophy: diagnosis, treatment and future prospects. (20711542)
Baioni M.T.... Ambiel C.R.
|21|Study of 962 patients indicates progressive muscular atrophy is a form of ALS. (20530331)
|22|Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice. (20089893)
Ruiz R.... Tabares L.
|23|Stem cell-derived neurotrophic support for the neuromuscular junction in spinal muscular atrophy. (20955113)
Wyatt T.J.... Keirstead H.S.
|24|Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. (19646678)
Renbaum P.... Levy-Lahad E.
|25|Universal multiplex PCR and CE for quantification of SMN1/SMN2 genes in spinal muscular atrophy. (19373809)
Wang C.C.... Wu S.M.
|26|Malignant ventricular arrhythmia in a case of adult onset of spinal muscular atrophy (Kugelberg-Welander disease). (19175839)
Roos M.... Brugada P.
|27|Induced pluripotent stem cells from a spinal muscular atrophy patient. (19098894)
Ebert A.D.... Svendsen C.N.
|28|Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy. (18172693)
Brichta L.... Wirth B.
|29|Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature. (18266240)
Menke L.A.... Cobben J.M.
|30|Androgen receptor and Kennedy disease/spinal bulbar muscular atrophy. (18321505)
Monks D.A.... Kemp M.Q.
|31|Spinal muscular atrophy diagnostics. (17761649)
|32|A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy. (18006961)
Nadeau A.... Vanasse M.
|33|Gait recovery in a distal spinal muscular atrophy patient wearing a patellar tendon-bearing orthosis and orthopaedic shoes. (17351703)
Luc M.... Delarque A.
|34|Rapid diagnosis of spinal muscular atrophy using denaturing high-performance liquid chromatography. (15952118)
Chen W.J.... Mu-Rong S.X.
|35|Spinal muscular atrophy carrier screening by multiplex polymerase chain reaction using dried blood spot on filter paper. (15720302)
Majumdar R.... Fetaini N.
|36|Quantitative analysis of SMN gene copies in spinal muscular atrophy]. (15079799)
Ding H.X.... Zhang L.F.
|37|Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity. (12242541)
Harada Y.... Nishio H.
|38|Spinal muscular atrophy of childhood at the edge of the centuries. (11996521)
Hausmanowa-Petrusewicz I.... Jedrzejowska M.
|39|Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy. (11181573)
Jablonka S.... Fischer U.
|40|The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. (10655541)
Monani U.R.... Burghes A.H.
|41|A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. (10339583)
Lorson C.L.... Wirth B.
|42|No evidence of association between apolipoprotein E genotype and phenotypic severity in childhood onset proximal spinal muscular atrophy. (10545039)
Morrison K.E.... Dubowitz V.
|43|Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy. (9499423)
Merry D.E.... Fischbeck K.H.
|44|Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy. (9708548)
Li M.... Sobue G.
|45|Gene deletions in spinal muscular atrophy. (8929942)
Rodrigues N.R.... Davies K.E.
|46|Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene. (7731968)
Selig S.... Kunkel L.M.
|47|Guanidine hydrochloride in infantile and juvenile spinal muscular atrophy. A double blind controlled study. (7027754)
Angelini C.... Trevisan C.
|48|CSF viral antibodies. Evaluation in amyotrophic lateral sclerosis and late-onset postpoliomyelitis progressive muscular atrophy. (220938)
Kurent J.E.... Engel W.K.
|49|Progressive muscular atrophy; and other conditions of muscular wasting. (20292923)
|50|Contributions to the symptomatology of amyotonia congenita (infantile spinal muscular atrophy). (21026460)