Results 151 to 160 of about 1,722 (231)

CLINICAL FEATURES AND MOLECULAR GENETIC DIAGNOSIS OF PROXIMAL SPINAL MUSCULAR ATROPHY IN CHILDHOOD

CLINICAL FEATURES AND MOLECULAR GENETIC DIAGNOSIS OF PROXIMAL SPINAL MUSCULAR ATROPHY IN CHILDHOOD
脊髄性筋萎縮症(SMA)は脊髄の前角細胞の変性,脱落により,筋萎縮や筋力低下を呈する常染色体性劣性の遺伝病である.本疾患は発症年齢,最高到達運動能力,経過により3つの型に分類される.分子遺伝学的には,1990年に3型ともに5q13に存在することが証明され,さらに1995年SMAの候補遺伝子としてSMN(survival motor neuron)遺伝子とNAIP(neuronal apoptosis inhibitory protein)遺伝子が報告された.本研究ではSMA患者を臨床的に分類し,SMN遺伝子,NAIP遺伝子について解析した.また,臨床型と遺伝子学的解析結果の関係を検討した.対象はSMA患者39名と精神遅滞,心肥大を各々伴つたatypical SMA2名である ...
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Pediatric acute respiratory distress syndrome in children with type I - spinal muscular atrophy: a 12-year case series. [PDF]

Eur J Pediatr
Piastra M, Zito G, Orr AM, Picconi E, Ferrari V, Pezza L, Marzano L, Morena TC, De Rosa G, Onesimo R, Fedele MC, Tempera A, Genovese O, Racca F, Varone A, Spinazzola G, De Luca D, De Sanctis R, Pane M, Mercuri E, Conti G.   +20 more
europepmc   +1 more source

Postural Tremor Caused by Hirayama Disease Mimicking Essential Tremor. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Xie N, Sun Q, Yang G.
europepmc   +1 more source

Single-dose GC101 gene therapy for spinal muscular atrophy types II and III: an open-label single-arm study. [PDF]

World J Pediatr
Ma XW, Jiang XY, Li ZQ, Dong XY, Ma WH, Wang YX, Yu SQ, Gu RJ, Wang XD, Zhong BM, He F, Xu J, Mao YY, Zhang YP, Zhang S, Li T, Li CY, Zhang S, Yang X, Zhu LN, Wu ZJ, Zhou B, Zhuang L, Li QP, Wu XB, Feng ZC.   +25 more
europepmc   +1 more source

Cerebrospinal fluid metabolomics reveals predictive biomarkers of nusinersen therapy efficacy in type II and type III spinal muscular atrophy patients. [PDF]

Neurol Sci
Li D, Sun N, Wu H, Wang X, Shi Y, Yang L, Huang S, Zhang K, Yang C.   +8 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

A perioperative nursing care protocol for patients with spinal muscular atrophy (SMA) type II or type III undergoing spinal surgery: a 4-year experience in 24 patients. [PDF]

Orphanet J Rare Dis
Li G, Xu K, Liu D, Wu N, Zhang TJ, Chen Y.   +5 more
europepmc   +1 more source

The effect of thoracolumbosacral orthosis on scoliosis progression and chest deformity in children with type 1 spinal muscular atrophy: A randomized controlled trial. [PDF]

PLoS One
Dansuk E, Van Den Berg ANT, Ata G, Yıkılmaz SK, Oktem S.   +4 more
europepmc   +1 more source

Epidemiological report and diagnostic approach used in the neuromuscular population of Liege, Belgium. [PDF]

Orphanet J Rare Dis
Mouraux C, Dangouloff T, Poleur M, Mackels L, Vanden Brande L, Daron A, Servais L, Maertens de Noordhout A, Delstanche S.   +8 more
europepmc   +1 more source

MCV/Q, Medical College of Virginia Quarterly, Vol. 13 No. 4 [PDF]

, 1977

core   +1 more source