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1. Full Text Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: Clinical laboratory analysis of >72 400 specimens
by Sugarman, Elaine A and Nagan, Narasimhan and Zhu, Hui and Akmaev, Viatcheslav R and Zhou, Zhaoqing and Rohlfs, Elizabeth M and Flynn, Kerry and Hendrickson, Brant C and Scholl, Thomas and Sirko-Osadsa, Deborah Alexa and Allitto, Bernice A
European journal of human genetics : EJHG, ISSN 1018-4813, 01/2012, Volume 20, Issue 1, pp. 27 - 32
pan-ethnic | carrier screening | SMN1 | spinal muscular atrophy (SMA) | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Neurology | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Muscular Atrophy, Spinal - diagnosis | United States - epidemiology | Humans | Male | Genetic Counseling | Genetic Testing - methods | Genetic Carrier Screening - methods | DNA Copy Number Variations | Muscular Atrophy, Spinal - genetics | Ethnic Groups - genetics | Survival of Motor Neuron 1 Protein - genetics | Adult | Female | Prenatal Diagnosis - statistics & numerical data | Reproducibility of Results | United States - ethnology | Genetic Testing - standards | Muscular Atrophy, Spinal - ethnology | Gene Frequency | Muscular Atrophy, Spinal - epidemiology | Genotype | Sequence Analysis, DNA | Fetus - cytology | Prenatal Diagnosis - standards | Mutation | Prenatal Diagnosis - methods | Laboratories | Families & family life | Cystic fibrosis | Family medical history | Minority & ethnic groups | Population genetics | Genetic screening | Hereditary diseases | Spinal muscular atrophy | Ethnicity | Prenatal diagnosis | Genetic counseling | Gene frequency | Alleles | Ethnic groups | Fibrosis | Population | Genetics | Quantitative analysis | Index Medicus
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2. Full Text Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy
by Chiriboga, Claudia A and Swoboda, Kathryn J and Darras, Basil T and Iannaccone, Susan T and Montes, Jacqueline and De Vivo, Darryl C and Norris, Daniel A and Bennett, C Frank and Bishop, Kathie M
Neurology, ISSN 0028-3878, 03/2016, Volume 86, Issue 10, pp. 890 - 897
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Injections, Spinal | Muscular Atrophy, Spinal - diagnosis | Follow-Up Studies | Humans | Child, Preschool | Male | Dose-Response Relationship, Drug | Adolescent | Female | Muscular Atrophy, Spinal - drug therapy | Oligonucleotides - administration & dosage | Child | Cohort Studies | Index Medicus | Abridged Index Medicus | 19 | 324 | 117 | 227 | 252
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3. Full Text Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
by Mercuri, Eugenio and Finkel, Richard S and Muntoni, Francesco and Wirth, Brunhilde and Montes, Jacqueline and Main, Marion and Mazzone, Elena S and Vitale, Michael and Snyder, Brian and Quijano-Roy, Susana and Bertini, Enrico and Davis, Rebecca Hurst and Meyer, Oscar H and Simonds, Anita K and Schroth, Mary K and Graham, Robert J and Kirschner, Janbernd and Iannaccone, Susan T and Crawford, Thomas O and Woods, Simon and Qian, Ying and Sejersen, Thomas and Muntoni, Francesco and Wirth, Brunhilde and Tiziano, Francesco Danilo and Kirschner, Janbernd and Tizzano, Eduardo and Topaloglu, Haluk and Swoboda, Kathy and Laing, Nigel and Kayoko, Saito and Prior, Thomas and Chung, Wendy K and Wu, Shou-Mei and Montes, Jacqueline and Mazzone, Elena and Main, Marion and Coleman, Caron and Gee, Richard and Glanzman, Allan and Kroksmark, Anna-Karin and Krosschell, Kristin and Nelson, Leslie and Rose, Kristy and Stępień, Agnieszka and Vuillerot, Carole and Vitale, Michael and Snyder, Brian and Quijano-Roy, Susana and Dubousset, Jean and Farrington, David and Flynn, Jack and Halanski, Matthew and Hasler, Carol and Miladi, Lotfi and Reilly, Christopher and Roye, Benjamin and Sponseller, Paul and Yazici, Muharrem and Hurst, Rebecca and Bertini, Enrico and Tarrant, Stacey and Barja, Salesa and Bertoli, Simona and Crawford, Thomas and Foust, Kevin and Kyle, Barbara and Rodan, Lance and Roper, Helen and Seffrood, Erin and Swoboda, Kathryn and Szlagatys-Sidorkiewicz, Agnieszka and SMA Care Group and SMA Care Grp
Neuromuscular disorders : NMD, ISSN 0960-8966, 02/2018, Volume 28, Issue 2, pp. 103 - 115
Diagnosis | Nutrition | Orthopedic | Care | Phisotherapy | Spinal muscular atrophy | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Care and treatment | Index Medicus | Medicin och hälsovetenskap
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4. Full Text Spinal muscular atrophy
by D'Amico, Adele and Mercuri, Eugenio and Tiziano, Francesco D and Bertini, Enrico
Orphanet journal of rare diseases, ISSN 1750-1172, 2011, Volume 6, Issue 1, pp. 71 - 71
Proximal SMA | SMN2 | motor neurons Disease names and synonyms: Spinal muscular atrophy 5q linked | SMN1 | Proximal spinal muscular atrophy | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Muscular Atrophy, Spinal - diagnosis | Humans | Prenatal Diagnosis | Child, Preschool | Muscular Atrophy, Spinal - epidemiology | Infant | Genetic Counseling | Muscular Atrophy, Spinal - genetics | Animals | Survival of Motor Neuron 1 Protein - genetics | Adult | Mice | Muscular Atrophy, Spinal - physiopathology | Infant, Newborn | Care and treatment | Genetic aspects | Diagnosis | Research | Gene therapy | Health aspects | Spinal muscular atrophy | Survival analysis | Genotype & phenotype | Weight control | Scoliosis | Rodents | Mortality | Stem cells | Classification | Index Medicus
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5. Full Text Natural history of infantile‐onset spinal muscular atrophy
by Kolb, Stephen J and Coffey, Christopher S and Yankey, Jon W and Krosschell, Kristin and Arnold, W. David and Rutkove, Seward B and Swoboda, Kathryn J and Reyna, Sandra P and Sakonju, Ai and Darras, Basil T and Shell, Richard and Kuntz, Nancy and Castro, Diana and Parsons, Julie and Connolly, Anne M and Chiriboga, Claudia A and McDonald, Craig and Burnette, W. Bryan and Werner, Klaus and Thangarajh, Mathula and Shieh, Perry B and Finanger, Erika and Cudkowicz, Merit E and McGovern, Michelle M and McNeil, D. Elizabeth and Finkel, Richard and Iannaccone, Susan T and Kaye, Edward and Kingsley, Allison and Renusch, Samantha R and McGovern, Vicki L and Wang, Xueqian and Zaworski, Phillip G and Prior, Thomas W and Burghes, Arthur H.M and Bartlett, Amy and Kissel, John T and NN101 SMA Biomarker Investigators and NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators and the NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators
Annals of neurology, ISSN 0364-5134, 12/2017, Volume 82, Issue 6, pp. 883 - 891
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Spinal Muscular Atrophies of Childhood - genetics | Prospective Studies | Humans | Child, Preschool | Survival of Motor Neuron 2 Protein - blood | Infant | Male | Spinal Muscular Atrophies of Childhood - blood | Biomarkers - blood | Survival of Motor Neuron 2 Protein - genetics | Survival of Motor Neuron 1 Protein - genetics | Female | Longitudinal Studies | Cohort Studies | Spinal Muscular Atrophies of Childhood - diagnosis | Survival of Motor Neuron 1 Protein - blood | Medical research | SMN protein | Mortality | Clinical trials | Muscles | Action potential | Nervous system | Infants | Infant mortality | Drug development | Motor task performance | Recruitment | Spinal muscular atrophy | Atrophy | Confidence intervals | Babies | Biomarkers | Ventilation | Death | Children | Neuromuscular system | Age | Natural history | Index Medicus | AIMS | CHOP-INTEND | TIMPSI | SMN | CMAP
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6. Full Text Spinal muscular atrophy-recent therapeutic advances for an old challenge
by Faravelli, Irene and Nizzardo, Monica and Comi, Giacomo P and Corti, Stefania
Nature reviews. Neurology, ISSN 1759-4758, 06/2015, Volume 11, Issue 6, pp. 351 - 359
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Muscular Atrophy, Spinal - diagnosis | Muscular Atrophy, Spinal - genetics | Diagnosis, Differential | Animals | Oligonucleotides, Antisense - genetics | Humans | Muscular Atrophy, Spinal - therapy | Motor Neurons | Clinical Trials as Topic | SMN Complex Proteins - genetics | Care and treatment | Stem cells | Development and progression | Genetic aspects | Research | Health aspects | Spinal muscular atrophy | Index Medicus
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7. Full Text Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening
by Chien, Yin-Hsiu and Chiang, Shu-Chuan and Weng, Wen-Chin and Lee, Ni-Chung and Lin, Ching-Jie and Hsieh, Wu-Shiun and Lee, Wang-Tso and Jong, Yuh-Jyh and Ko, Tsang-Ming and Hwu, Wuh-Liang
The Journal of pediatrics, ISSN 0022-3476, 11/2017, Volume 190, pp. 124 - 129.e1
spinal muscular atrophy | recombination | real-time PCR | SMN1 | newborn screening | Life Sciences & Biomedicine | Pediatrics | Science & Technology | Muscular Atrophy, Spinal - diagnosis | Humans | Real-Time Polymerase Chain Reaction - methods | Infant | Male | Neonatal Screening - methods | Pilot Projects | Survival of Motor Neuron 2 Protein - genetics | Survival of Motor Neuron 1 Protein - genetics | Taiwan | Female | Early Diagnosis | Infant, Newborn | Index Medicus | Abridged Index Medicus
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8. Full Text Nusinersen, an antisense oligonucleotide drug for spinal muscular atrophy
by Corey, David R
Nature neuroscience, ISSN 1097-6256, 03/2017, Volume 20, Issue 4, pp. 497 - 499
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Muscular Atrophy, Spinal - diagnosis | Animals | Oligonucleotides - therapeutic use | Humans | Oligonucleotides, Antisense - therapeutic use | Drug Discovery - trends | Drug Discovery - methods | Muscular Atrophy, Spinal - drug therapy | Muscular Atrophy, Spinal - physiopathology | Molecular targeted therapy | Care and treatment | Gene mutations | Innovations | Development and progression | Genetic aspects | Health aspects | Spinal muscular atrophy | Index Medicus
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