|1|No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype. (27141859)
Bertolin C.... SorarA^ G.
|2|Unilateral progressive muscular atrophy with fast symptoms progression. (26851691)
Bogucki A.... Gajos A.
|3|1st Italian SMA Family Association Consensus Meeting:: Management and recommendations for respiratory involvement in spinal muscular atrophy (SMA) types I-III, Rome, Italy, 30-31 January 2015. (26453142)
Sansone V.A.... Casiraghi J.L.
|4|Spinal and Bulbar Muscular Atrophy. (26515625)
Grunseich C.... Fischbeck K.H.
|5|Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1. (25847462)
Rubboli G.... Michelucci R.
|6|Spinobulbar muscular atrophy (Kennedy's disease): A rare diagnosis in the Greek population. (26481168)
Koutsis G.... Panas M.
|7|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.
|8|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.
|9|A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. (24207122)
Sumner C.J.... Houlden H.
|10|A case report of extended neurogenic muscular atrophy related to SAPHO syndrome. (24158656)
Ye F.... Liu J.
|11|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.
|12|Enhancement of SMN protein levels in a mouse model of spinal muscular atrophy using novel drug-like compounds. (23740718)
Cherry J.J.... Androphy E.J.
|13|Current status of treatment of spinal and bulbar muscular atrophy. (22720173)
Tanaka F.... Sobue G.
|14|SMN-inducing compounds for the treatment of spinal muscular atrophy. (23157239)
Lorson M.A.... Lorson C.L.
|15|Pathogenesis and molecular targeted therapy of spinal and bulbar muscular atrophy (SBMA). (22476656)
Banno H.... Sobue G.
|16|Is muscular atrophy a contraindication in laparoscopic abdominal wall defect repair? A prospective study. (22369826)
Moreno-Egea A.... Carrillo-Alcaraz A.
|17|Stress and coping in parents of children and adolescents with spinal muscular atrophy. (22504774)
von Gontard A.... Zerres K.
|18|A case of spinal and bulbar muscular atrophy with high-stage and high-Gleason Score prostate cancer responded to maximal androgen blockade therapy. (21940987)
Kosaka T.... Oya M.
|19|Impaired mandibular function in spinal muscular atrophy type II: need for early recognition. (21596705)
van Bruggen H.W.... Steenks M.H.
|20|Detection of spinal muscular atrophy carriers in a sample of the Brazilian population. (21335981)
Bueno K.C.... Marques W.
|21|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.
|22|Utility of survival motor neuron ELISA for spinal muscular atrophy clinical and preclinical analyses. (21904622)
Kobayashi D.T.... Chen K.S.
|23|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.
|24|Study of 962 patients indicates progressive muscular atrophy is a form of ALS. (20530331)
|25|Contractures of the upper extremities in spinal muscular atrophy type II. Descriptive clinical study with retrospective data collection. (21057148)
Fujak A.... Forst J.
|26|Universal multiplex PCR and CE for quantification of SMN1/SMN2 genes in spinal muscular atrophy. (19373809)
Wang C.C.... Wu S.M.
|27|Malignant ventricular arrhythmia in a case of adult onset of spinal muscular atrophy (Kugelberg-Welander disease). (19175839)
Roos M.... Brugada P.
|28|Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy. (19259967)
Banno H.... Sobue G.
|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|Rare missense and synonymous variants in UBE1 are associated with X- linked infantile spinal muscular atrophy. (18179898)
Ramser J.... Baumbach-Reardon L.
|32|Spinal muscular atrophy diagnostics. (17761649)
|33|A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy. (18006961)
Nadeau A.... Vanasse M.
|34|Spinal muscular atrophy and therapeutic prospects. (17076267)
Wirth B.... Hahnen E.
|35|Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. (16508748)
Wirth B.... Heller R.
|36|Spinal muscular atrophy carrier screening by multiplex polymerase chain reaction using dried blood spot on filter paper. (15720302)
Majumdar R.... Fetaini N.
|37|Quantitative analysis of SMN gene copies in spinal muscular atrophy]. (15079799)
Ding H.X.... Zhang L.F.
|38|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.
|39|Spinal muscular atrophy of childhood at the edge of the centuries. (11996521)
Hausmanowa-Petrusewicz I.... Jedrzejowska M.
|40|The relationship between SMN, the spinal muscular atrophy protein, and nuclear coiled bodies in differentiated tissues and cultured cells. (10772809)
Young P.J.... Morris G.E.
|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|Late progressive muscular atrophy and antecedent poliomyelitis. (6983825)
Alter M.... Molgaard C.A.
|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|A VIRGINIA KINSHIP WITH HEREDITARY SENSORY NEUROPATHY: PERONEAL MUSCULAR ATROPHY AND PES CAVUS. (14341177)
Dyck P.J.... KRAYBILL E.N.
|50|Progressive Muscular Atrophy. (19976057)