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1
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0001269734
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Zwei frühinfantile hereditäre Fälle von progressive Muskelatrophie unter dem Bilde der Dystrophie, aber auf neurotischer Grundlage [Two early infantile hereditary cases of progressive muscular atrophy simulating dystrophy, but on a neural basis; in German]
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Werdnig G. Zwei frühinfantile hereditäre Fälle von progressive Muskelatrophie unter dem Bilde der Dystrophie, aber auf neurotischer Grundlage [Two early infantile hereditary cases of progressive muscular atrophy simulating dystrophy, but on a neural basis; in German]. Arch Psychiatr Nervenkr. 1891;22:437–80.
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Arch Psychiatr Nervenkr
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Werdnig, G.1
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2
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0000020061
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U” ber chronische spinale Muskelatrophie im Kindesalter, auf familiärer Basis [On chronic spinal muscular atrophy in childhood, with a familial basis; in German]
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Hoffmann J. U” ber chronische spinale Muskelatrophie im Kindesalter, auf familiärer Basis [On chronic spinal muscular atrophy in childhood, with a familial basis; in German]. Dtsch Z Nervenheilkd. 1893;3:427–70.
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Dtsch Z Nervenheilkd
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Hoffmann, J.1
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3
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72849183232
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Infantile muscular atrophy: En eleven-year experience
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PID: 13875293, COI: 1:STN:280:DyaF38%2Fhs1Grsw%3D%3D
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Byers RK, Banker BQ. Infantile muscular atrophy: en eleven-year experience. Trans Am Neurol Assoc. 1960;85:10–4.
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Byers, R.K.1
Banker, B.Q.2
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4
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0037100098
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Genetic risk assessment in carrier testing for spinal muscular atrophy
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PID: 12116201
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Ogino S, Leonard DG, Rennert H, Ewens WJ, Wilson RB. Genetic risk assessment in carrier testing for spinal muscular atrophy. Am J Med Genet. 2002;110:301–7.
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Am J Med Genet
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Ogino, S.1
Leonard, D.G.2
Rennert, H.3
Ewens, W.J.4
Wilson, R.B.5
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5
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23844516090
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Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population
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PID: 16116135, COI: 1:STN:280:DC%2BD2MvkvFCnug%3D%3D
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Zaldivar T, Montejo Y, Acevedo AM, Guerra R, Vargas J, Garofalo N, et al. Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population. Neurology. 2005;65:636–8.
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Zaldivar, T.1
Montejo, Y.2
Acevedo, A.M.3
Guerra, R.4
Vargas, J.5
Garofalo, N.6
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6
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34548167361
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Consensus Statement for Standard of Care in Spinal Muscular Atrophy
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PID: 17761659
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Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, et al. Consensus Statement for Standard of Care in Spinal Muscular Atrophy. J Child Neurol. 2007;22:1027.
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J Child Neurol
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Wang, C.H.1
Finkel, R.S.2
Bertini, E.S.3
Schroth, M.4
Simonds, A.5
Wong, B.6
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7
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84859816485
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Mercuri E, Bertini E, Iannaccone ST. Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol. 2012;11:443–52. A brief communication bringing the reader up to date for standard of care for children with SMA. The authors who are well known for their expertise in the care of SMA patients include a discussion of new and emerging therapies in pre-clinical or clnical testing
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Mercuri E, Bertini E, Iannaccone ST. Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol. 2012;11:443–52. A brief communication bringing the reader up to date for standard of care for children with SMA. The authors who are well known for their expertise in the care of SMA patients include a discussion of new and emerging therapies in pre-clinical or clnical testing.
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8
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0028144083
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Swallowing problems in neuromuscular disorders
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PID: 7979925, COI: 1:STN:280:DyaK2M%2FntVOiug%3D%3D
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Willig TN, Paulus J, Lacau-Saint-Guily J, et al. Swallowing problems in neuromuscular disorders. Arch Phys Med Rehabil. 1994;75:1175–81.
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Willig, T.N.1
Paulus, J.2
Lacau-Saint-Guily, J.3
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9
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0031806005
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Nutrition and swallowing in pediatric neuromuscular patients
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PID: 9661244, COI: 1:STN:280:DyaK1czisFOhsw%3D%3D
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Tilton AH, Miller MD, Khoshoo V. Nutrition and swallowing in pediatric neuromuscular patients. Semin Pediatr Neurol. 1998;5:106–15.
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Semin Pediatr Neurol
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, pp. 106-115
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Tilton, A.H.1
Miller, M.D.2
Khoshoo, V.3
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10
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78649904051
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Association of long-term proton pump inhibitor therapy with bone fractures and effects on absorption of calcium, vitamin B12, iron, and magnesium
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PID: 20882439
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Ito T, Jensen RT. Association of long-term proton pump inhibitor therapy with bone fractures and effects on absorption of calcium, vitamin B12, iron, and magnesium. Curr Gastroenterol Rep. 2010;12:448–57.
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Curr Gastroenterol Rep
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Ito, T.1
Jensen, R.T.2
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11
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0035215274
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Multiple micronutrient deficiencies in a child fed an elemental formula
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PID: 11740236, COI: 1:STN:280:DC%2BD3Mnpt1answ%3D%3D
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Jones M, Campbell KA, Duggan C, et al. Multiple micronutrient deficiencies in a child fed an elemental formula. J Pediatr Gastroenterol Nutr. 2001;33:602–5.
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J Pediatr Gastroenterol Nutr
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Jones, M.1
Campbell, K.A.2
Duggan, C.3
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12
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73349139887
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Dysphagia in spinal muscular atrophy type II
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PID: 19933981
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Van den Engel-Hoek L, Erasmus C. Dysphagia in spinal muscular atrophy type II. Neurology. 2009;73:1787–91.
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Neurology
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Van den Engel-Hoek, L.1
Erasmus, C.2
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13
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43449122152
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Feeding problems and malnutrition in spinal muscular atrophy type I
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Messina S, Pane M, et al. Feeding problems and malnutrition in spinal muscular atrophy type I. Neuromuscul Disord. 2008;18:389–93.
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Neuromuscul Disord
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Messina, S.1
Pane, M.2
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14
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4444291534
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Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III
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Chng S, Wong Y, Hui J, et al. Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III. J Paediatr Child Health. 2003;39:673–6.
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J Paediatr Child Health
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Chng, S.1
Wong, Y.2
Hui, J.3
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15
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84893677349
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Zanetta C, Riboldi G, Nizzardo M, Simone C, Faravelli I, Bresolin N, et al. Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA). J Cell Mol Med. 2014;18:187–96. This is an in depth review of new therapeutic strategies for childhood SMA. The authors are prominent Italian clinician scientists and they provide and excellent summary of the mechanism of action for each of the approaches with many references
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Zanetta C, Riboldi G, Nizzardo M, Simone C, Faravelli I, Bresolin N, et al. Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA). J Cell Mol Med. 2014;18:187–96. This is an in depth review of new therapeutic strategies for childhood SMA. The authors are prominent Italian clinician scientists and they provide and excellent summary of the mechanism of action for each of the approaches with many references.
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16
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84892373557
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Zanetta C, Nizzardo M, Simone C, Monguzzi E, Bresolin N, Comi GP, et al. Molecular therapeutic strategies for spinal muscular atrophies: current and future clinical trials. Clin Ther. 2014;36:128–40. These authors are the same as for #15, but this article presents an up to date summary of actual clinical trials either recently completed or still in process for SMA. there is description of mechanism of action for the investigational product as well as summary of the protocol for each study
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Zanetta C, Nizzardo M, Simone C, Monguzzi E, Bresolin N, Comi GP, et al. Molecular therapeutic strategies for spinal muscular atrophies: current and future clinical trials. Clin Ther. 2014;36:128–40. These authors are the same as for #15, but this article presents an up to date summary of actual clinical trials either recently completed or still in process for SMA. there is description of mechanism of action for the investigational product as well as summary of the protocol for each study.
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17
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84856951034
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Antisense Oligonucleotides Shed new light on the pathogenesis and treatment of Spinal Muscular Atrophy
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PID: 22215052, COI: 1:CAS:528:DC%2BC38Xls1Shtw%3D%3D
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Yee J-K, Lin R-J. Antisense Oligonucleotides Shed new light on the pathogenesis and treatment of Spinal Muscular Atrophy. Mol Ther. 2012;20:8–10.
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Mol Ther
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Yee, J.-K.1
Lin, R.-J.2
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19
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84888132737
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Current advances in drug development in spinal muscular atrophy
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PID: 24240287, COI: 1:CAS:528:DC%2BC3sXhvVSmur3L
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Singh P, Liew WKM, Darras BT. Current advances in drug development in spinal muscular atrophy. Curr Opin Pediatr. 2013;25:682–8.
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Curr Opin Pediatr
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Singh, P.1
Liew, W.K.M.2
Darras, B.T.3
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