Works matching DE "TREATMENT of spinal muscular atrophy"

Results: 147

An Assessment of the Knowledge, Attitudes, and Practices of Pediatricians and Pediatric Residents in Spinal Muscular Atrophy.

Published in:

Haydarpasa Numune Medical Journal, 2023, v. 6, n. 3, p. 231, doi. 10.14744/hnhj.2021.92260

By:

Mıhçı, Filiz;
Tuncer, Gökçen Öz;
Kutluk, Muhammet Gültekin;
Köken, Özlem Yayıcı

Publication type:

Article

Newborn Screening for Spinal Muscular Atrophy: Variations in Practice and Early Management of Infants with Spinal Muscular Atrophy in the United States.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 58, doi. 10.3390/ijns10030058

By:

Zaidman, Craig M.;
Crockett, Cameron D.;
Wedge, Ethan;
Tabatabai, Grace;
Goedeker, Natalie

Publication type:

Article

Systematic Review of Presymptomatic Treatment for Spinal Muscular Atrophy.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 56, doi. 10.3390/ijns10030056

By:

Cooper, Katy;
Nalbant, Gamze;
Sutton, Anthea;
Harnan, Sue;
Thokala, Praveen;
Chilcott, Jim;
McNeill, Alisdair;
Bessey, Alice

Publication type:

Article

Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 34, doi. 10.3390/ijns10020034

By:

Lietsch, Mei;
Chan, Kee;
Taylor, Jennifer;
Lee, Bo Hoon;
Ciafaloni, Emma;
Kwon, Jennifer M.;
Waldrop, Megan A.;
Butterfield, Russell J.;
Rathore, Geetanjali;
Veerapandiyan, Aravindhan;
Kapil, Arya;
Parsons, Julie A.;
Gibbons, Melissa;
Brower, Amy

Publication type:

Article

Bilateral aberrant C1/2 intradural vertebral arteries: a rare cause of cervical myelopathy.

Published in:

ANZ Journal of Surgery, 2017, v. 87, n. 3, p. 202, doi. 10.1111/ans.12870

By:

Tsang, Anderson C. O.;
Tsang, Frederick C. P.;
Lui, Wai‐Man

Publication type:

Article

Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013, v. 14, n. 7/8, p. 628, doi. 10.3109/21678421.2013.812662

By:

Rattay, Tim W.;
Schöls, Ludger;
Wilhelm, Christian;
Synofzik, Matthis

Publication type:

Article

Clinical research advance of therapeutic strategies for spinal muscular atrophy.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2019, v. 19, n. 6, p. 385, doi. 10.3969/j.issn.1672-6731.2019.06.003

By:

LI Jing;
ZHANG Cheng

Publication type:

Article

Research progress of spinal muscular atrophy treatment in children.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 4, p. 284, doi. 10.3969/j.issn.1672-6731.2018.04.010

By:

ZHAO Miao;
LU Ying-qian;
WANG Ning;
CHEN Wan-jin

Publication type:

Article

Nusinersen: First Global Approval.

Published in:

Drugs, 2017, v. 77, n. 4, p. 473, doi. 10.1007/s40265-017-0711-7

By:

Hoy, Sheridan

Publication type:

Article

Splice-Switching Therapy for Spinal Muscular Atrophy.

Published in:

Genes, 2017, v. 8, n. 6, p. 161, doi. 10.3390/genes8060161

By:

Meijboom, Katharina E.;
Wood, Matthew J. A.;
McClorey, Graham

Publication type:

Article

SINGULAR THERAPEUTIC PROJECT AND MULTIPROFESSIONAL TEAM IN CLINICAL COMPLEX CASE MANAGEMENT: AN EXPERIENCE REPORT.

Published in:

Journal of Nursing UFPE / Revista de Enfermagem UFPE, 2015, v. 9, n. 4, p. 7482, doi. 10.5205/reuol.7275-62744-1-SM.0904201537

By:

Lieka Assega, Mariana;
Lopes-Júnior, Luís Carlos;
Tiemi Assega, Denise;
Garcia Lima, Regina Aparecida;
Moreira Pirolo, Sueli

Publication type:

Article

Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 1, p. 59, doi. 10.1038/sj.ejhg.5201102

By:

Shastry, B. S.;
Trese, M. T.

Publication type:

Article

Lactante con atrofia muscular espinal y encefalopatía hipóxico-isquémica.

Published in:

Boletín Médico del Hospital Infantil de México, 2010, v. 67, n. 1, p. 63

By:

Medina, Jerónimo Sánchez;
Moreno González, Aída Máshenka;
Romero Baizabal, Bertha Lilia;
Aguilar, Juan Hernández;
Delgado, Constanza García;
Avelar, Aída Sánchez

Publication type:

Article

Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history.

Published in:

PLoS ONE, 2018, v. 13, n. 9, p. 1, doi. 10.1371/journal.pone.0202104

By:

Carson, Vincent J.;
Puffenberger, Erik G.;
Bowser, Lauren E.;
Brigatti, Karlla W.;
Young, Millie;
Korulczyk, Dominika;
Rodrigues, Ashlin S.;
Loeven, KaLynn K.;
Strauss, Kevin A.

Publication type:

Article

Neuroprotective Effect of Non-viral Gene Therapy Treatment Based on Tetanus Toxin C-fragment in a Severe Mouse Model of Spinal Muscular Atrophy.

Published in:

Frontiers in Molecular Neuroscience, 2016, p. 1, doi. 10.3389/fnmol.2016.00076

By:

Oliván, Sara;
Calvo, Ana C.;
Rando, Amaya;
Herrando-Grabulosa, Mireia;
Manzano, Raquel;
Zaragoza, Pilar;
Tizzano, Eduardo F.;
Aquilera, Jose;
Osta, Rosario

Publication type:

Article

Symptom management and psychological support for families are the cornerstones of end-of-life care for children with spinal muscular atrophy type 1.

Published in:

2018

By:

Di Pede, Chiara;
Agosto, Caterina;
De Tommasi, Valentina;
De Gregorio, Alessandra;
Benini, Franca

Publication type:

journal article

SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy.

Published in:

2019

By:

Pechmann, Astrid;
König, Kirsten;
Bernert, Günther;
Schachtrup, Kristina;
Schara, Ulrike;
Schorling, David;
Schwersenz, Inge;
Stein, Sabine;
Tassoni, Adrian;
Vogt, Sibylle;
Walter, Maggie C.;
Lochmüller, Hanns;
Kirschner, Janbernd

Publication type:

journal article

Acid ceramidase deficiency: Farber disease and SMA-PME.

Published in:

2018

By:

Yu, Fabian P. S.;
Amintas, Samuel;
Levade, Thierry;
Medin, Jeffrey A.

Publication type:

journal article

Call in the backup.

Published in:

Nature Medicine, 2012, v. 18, n. 11, p. 1602, doi. 10.1038/nm1112-1602

By:

Dolgin, Elie

Publication type:

Article

Viral delivery of miR-196a ameliorates the SBMA phenotype via the silencing of CELF2.

Published in:

Nature Medicine, 2012, v. 18, n. 7, p. 1136, doi. 10.1038/nm.2791

By:

Miyazaki, Yu;
Adachi, Hiroaki;
Katsuno, Masahisa;
Minamiyama, Makoto;
Jiang, Yue-Mei;
Huang, Zhe;
Doi, Hideki;
Matsumoto, Shinjiro;
Kondo, Naohide;
Iida, Madoka;
Tohnai, Genki;
Tanaka, Fumiaki;
Muramatsu, Shin-ichi;
Sobue, Gen

Publication type:

Article

Ventilator use in progressive neuromuscular disease: impact on patients and their families.

Published in:

1988

By:

Miller, Jessica Robins;
Colbert, Agatha P.;
Schock, Nancy C.;
Miller, J R;
Colbert, A P;
Schock, N C

Publication type:

journal article

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

Published in:

Nature Genetics, 2004, v. 36, n. 3, p. 271, doi. 10.1038/ng1313

By:

Windpassinger, Christian;
Auer-Grumbach, Michaela;
Irobi, Joy;
Patel, Heema;
Petek, Erwin;
Hörl, Gerd;
Malli, Roland;
Reed, Johanna A.;
Dierick, Ines;
Verpoorten, Nathalie;
Warner, Thomas T.;
Proukakis, Christos;
Van den Bergh, Peter;
Verellen, Christine;
Maldergem, Lionel Van;
Merlini, Luciano;
De Jonghe, Peter;
Timmerman, Vincent;
Crosby, Andrew H.;
Wagner, Klaus

Publication type:

Article

Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls.

Published in:

BMC Musculoskeletal Disorders, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12891-015-0457-x

By:

Ping Fang;
Liang Li;
Jian Zeng;
Wan-Jun Zhou;
Wei-Qing Wu;
Ze-Yan Zhong;
Ti-Zhen Yan;
Jian-Sheng Xie;
Jing Huang;
Li Lin;
Ying Zhao;
Xiang-Min Xu

Publication type:

Article

Spinal Muscular Atrophy and Common Therapeutic Advances.

Published in:

Fetal & Pediatric Pathology, 2019, v. 38, n. 3, p. 226, doi. 10.1080/15513815.2018.1520374

By:

Bozorg Qomi, Saeed;
Asghari, Amir;
Salmaninejad, Arash;
Mojarrad, Majid

Publication type:

Article

Screening for spinal muscular atrophy.

Published in:

2018

By:

Sampaio, Hugo;
Wilcken, Bridget;
Farrar, Michelle

Publication type:

journal article

Operative treatment of scoliosis in proximal spinal muscular atrophy: results of 41 patients.

Published in:

Archives of Orthopaedic & Trauma Surgery, 2012, v. 132, n. 12, p. 1697, doi. 10.1007/s00402-012-1610-8

By:

Fujak, Albert;
Raab, Wolfgang;
Schuh, Alexander;
Kreß, Alexander;
Forst, Raimund;
Forst, Jürgen

Publication type:

Article

Antisense-based therapy for the treatment of spinal muscular atrophy.

Published in:

Journal of Cell Biology, 2012, v. 199, n. 1, p. 21, doi. 10.1083/jcb.201207087

By:

Rigo, Frank;
Yimin Hua;
Krainer, Adrian R.;
Bennett, C. Frank

Publication type:

Article

Segmental Spinal Muscular Atrophy Localised to the Lower Limbs: First case from Oman.

Published in:

Sultan Qaboos University Medical Journal, 2017, v. 17, n. 3, p. 355, doi. 10.18295/squmj.2017.17.03.018

By:

Koul, Roshan;
Al-Futaisi, Amna;
Al-Thihli, Khalid;
Bruwer, Zandre;
Scott, Patrick

Publication type:

Article

A Semi‐Mechanistic Population Pharmacokinetic Model of Nusinersen: An Antisense Oligonucleotide for the Treatment of Spinal Muscular Atrophy.

Published in:

CPT: Pharmacometrics & Systems Pharmacology, 2018, v. 7, n. 9, p. 581, doi. 10.1002/psp4.12323

By:

Biliouris, Konstantinos;
Gaitonde, Puneet;
Yin, Wei;
Norris, Daniel A.;
Wang, Yanfeng;
Henry, Scott;
Fey, Robert;
Nestorov, Ivan;
Schmidt, Stephan;
Rogge, Mark;
Lesko, Lawrence J.;
Trame, Mirjam N.

Publication type:

Article

Journal scan.

Published in:

Journal of Clinical & Scientific Research, 2018, v. 7, n. 4, p. 194, doi. 10.4103/JCSR.JCSR_21_19

By:

Suresh, V.;
Bitla, A. R.

Publication type:

Article

Activ C cervical disc replacement for myelopathy.

Published in:

Journal of Craniovertebral Junction & Spine, 2011, v. 2, n. 2, p. 82, doi. 10.4103/0974-8237.100062

By:

L., McGonagle;
S., Cadman;
D., Chitgopkar S.;
L., Canavan;
M., O'Malley;
M., Shackleford I.

Publication type:

Article

Systems Biology Investigation of cAMP Modulation to Increase SMN Levels for the Treatment of Spinal Muscular Atrophy.

Published in:

PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0115473

By:

Mack, Sean G.;
Cook, Daniel J.;
Dhurjati, Prasad;
Butchbach, Matthew E. R.

Publication type:

Article

Selective Vulnerability of Spinal and Cortical Motor Neuron Subpopulations in delta7 SMA Mice.

Published in:

PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0082654

By:

d’Errico, Paolo;
Boido, Marina;
Piras, Antonio;
Valsecchi, Valeria;
De Amicis, Elena;
Locatelli, Denise;
Capra, Silvia;
Vagni, Francesco;
Vercelli, Alessandro;
Battaglia, Giorgio

Publication type:

Article

Small Molecule Suppressors of <i>Drosophila</i> Kinesin Deficiency Rescue Motor Axon Development in a Zebrafish Model of Spinal Muscular Atrophy.

Published in:

PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074325

By:

Gassman, Andrew;
Hao, Le T.;
Bhoite, Leena;
Bradford, Chad L.;
Chien, Chi-Bin;
Beattie, Christine E.;
Manfredi, John P.

Publication type:

Article

Improved Antisense Oligonucleotide Design to Suppress Aberrant <i>SMN2</i> Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy.

Published in:

PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0062114

By:

Mitrpant, Chalermchai;
Porensky, Paul;
Zhou, Haiyan;
Price, Loren;
Muntoni, Francesco;
Fletcher, Sue;
Wilton, Steve D.;
Burghes, Arthur H. M.

Publication type:

Article

SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy.

Published in:

PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0060113

By:

Kobayashi, Dione T.;
Shi, Jing;
Stephen, Laurie;
Ballard, Karri L.;
Dewey, Ruth;
Mapes, James;
Chung, Brett;
McCarthy, Kathleen;
Swoboda, Kathryn J.;
Crawford, Thomas O.;
Li, Rebecca;
Plasterer, Thomas;
Joyce, Cynthia;
Chung, Wendy K.;
Kaufmann, Petra;
Darras, Basil T.;
Finkel, Richard S.;
Sproule, Douglas M.;
Martens, William B.;
McDermott, Michael P.

Publication type:

Article

Tracheotomy and children with spinal muscular atrophy type 1: Ethical considerations in the French context.

Published in:

2012

By:

Rul, Brigitte;
Carnevale, Franco;
Estournet, Brigitte;
Rudler, Michèle;
Hervé, Christian

Publication type:

Journal Article

Therapy Development for Spinal Muscular Atrophy in SMN Independent Targets.

Published in:

Neural Plasticity, 2012, v. 2012, p. 1, doi. 10.1155/2012/456478

By:

Tsai, Li-Kai

Publication type:

Article

Current Status of Treatment of Spinal and Bulbar Muscular Atrophy.

Published in:

Neural Plasticity, 2012, v. 2012, p. 1, doi. 10.1155/2012/369284

By:

Tanaka, Fumiaki;
Katsuno, Masahisa;
Banno, Haruhiko;
Suzuki, Keisuke;
Adachi, Hiroaki;
Sobue, Gen

Publication type:

Article

Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps.

Published in:

2019

By:

Gidaro, Teresa;
Servais, Laurent

Publication type:

journal article

Table of Contents.

Published in:: Developmental Medicine & Child Neurology, 2017, v. 59, n. 8, p. 771, doi. 10.1111/dmcn.13272
Publication type:: Article

Long-term ventilation in spinal muscular atrophy: the price of progress.

Published in:

2017

By:

Smith, Martin

Publication type:

Editorial

News in brief.

Published in:

Indian Pediatrics, 2017, v. 54, n. 2, p. 167, doi. 10.1007/s13312-017-1024-3

By:

Passi, Gouri

Publication type:

Article

Assays for the Identification and Prioritization of Drug Candidates for Spinal Muscular Atrophy.

Published in:

Assay & Drug Development Technologies, 2014, v. 12, n. 6, p. 315, doi. 10.1089/adt.2014.587

By:

Cherry, Jonathan J.;
Kobayashi, Dione T.;
Lynes, Maureen M.;
Naryshkin, Nikolai N.;
Tiziano, Francesco Danilo;
Zaworski, Phillip G.;
Rubin, Lee L.;
Jarecki, Jill

Publication type:

Article

Interview with Jill Jarecki, PhD.

Published in:: Assay & Drug Development Technologies, 2014, v. 12, n. 6, p. 311, doi. 10.1089/adt.2014.1505
Publication type:: Article

Conventional JOA score for cervical myelopathy has a rater's bias -In comparison with JOACMEQ.

Published in:

2018

By:

Hosono, Noboru;
Mukai, Yoshihiro;
Takenaka, Shota;
Tateishi, Kosuke;
Fujiwara, Yasushi;
Morishita, Yuichiro;
Konishi, Hiroaki

Publication type:

journal article

Onasemnogene Abeparvovec (AVXS-101) for the Treatment of Spinal Muscular Atrophy.

Published in:

Journal of Pediatric Pharmacology & Therapeutics, 2021, v. 26, n. 5, p. 437, doi. 10.5863/1551-6776-26.5.437

By:

Naveed, Aimen;
Calderon, Hillary

Publication type:

Article

Spinal muscular atrophy, pediatric virology and gene therapy: A challenge of modern weakness and hope.

Published in:

Experimental & Therapeutic Medicine, 2018, v. 15, n. 4, p. 3671, doi. 10.3892/etm.2018.5883

By:

Darras, Basil T.;
Mammas, Ioannis N.;
Spandidos, Demetrios A.

Publication type:

Article

Spinal muscular atrophy type I and the dual role of viruses: An interview with Professor Basil T. Darras, Professor of Neurology (Pediatrics) at Harvard Medical School.

Published in:

Experimental & Therapeutic Medicine, 2018, v. 15, n. 4, p. 3673, doi. 10.3892/etm.2018.5884

By:

Mammas, Ioannis N.;
Spandidos, Demetrios A.

Publication type:

Article

Application of urine cells in drug intervention for spinal muscular atrophy.

Published in:

Experimental & Therapeutic Medicine, 2017, v. 14, n. 3, p. 1993, doi. 10.3892/etm.2017.4791

By:

QI-JIE ZHANG;
XIANG LIN;
JIN-JING LI;
YING-QIAN LU;
XIN-XIN GUO;
EN-LIN DONG;
MIAO ZHAO;
JIN HE;
NING WANG;
WAN-JIN CHEN

Publication type:

Article