Results 151 to 160 of about 1,729 (232)

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 ...
openaire  

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

Longitudinal data collection in pediatric and adult patients with 5q spinal muscular atrophy in Latin America: LATAM RegistrAME study - a clinical registry study protocol. [PDF]

Einstein (Sao Paulo)
Batista EC, Zanoteli E, Monfardini F, Santos GPD, Silva GS, Berwanger O, Rizzo LV, Fonseca HARD.   +7 more
europepmc   +1 more source

Bulbar function in children with spinal muscular atrophy type 1 treated with nusinersen. [PDF]

Dev Med Child Neurol
Stimpson G, Fanelli L, Conway E, Johnson E, Berti B, Scoto M, Muntoni F, Mercuri E, Baranello G, p‐FOIS/CEDAS and OrSAT Working Group.   +9 more
europepmc   +1 more source

Modern Surgery - Chapter 17. Tumors, or Morbid Growths [PDF]

, 1903
Da Costa, John Chalmers
core   +1 more source

Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1.

JAMA Netw Open
Ropars J, Cances C, Garcia-Uzquiano R, Gomez-Garcia de la Banda M, Barnerias C, Audic F, Durigneux J, Halbert C, Nkam L, Laugel V, Espil C, Walther-Louvier U, Davion JB, Isapof A, Le Goff L, Desguerre I, Quijano-Roy S, Grimaldi L, French SMA Registry Study Group.   +18 more
europepmc   +1 more source

Sensory dysfunction in SMA type 2 and 3 - adaptive mechanism or concomitant target of damage? [PDF]

Orphanet J Rare Dis
Koszewicz M, Ubysz J, Dziadkowiak E, Wieczorek M, Budrewicz S.   +4 more
europepmc   +1 more source

Ubiquitination Insight from Spinal Muscular Atrophy-From Pathogenesis to Therapy: A Muscle Perspective. [PDF]

Int J Mol Sci
Bolado-Carrancio A, Tapia O, Rodríguez-Rey JC.   +2 more
europepmc   +1 more source

Open-label phase IV trial evaluating nusinersen after onasemnogene abeparvovec in children with spinal muscular atrophy. [PDF]

J Clin Invest
Proud CM, Finkel RS, Parsons JA, Masson R, Brandsema JF, Kuntz NL, Foster R, Li W, Littauer R, Sohn J, Fradette S, Youn B, Paradis AD, RESPOND Study Group.   +13 more
europepmc   +1 more source

Safety and Efficacy of Nusinersen Focusing on Renal and Hematological Parameters in Spinal Muscular Atrophy. [PDF]

Brain Behav
Bahadır Şenol H, Yıldız G, Polat Aİ, Aydın A, Hız AS, Soylu A, Yiş U.   +6 more
europepmc   +1 more source