Works matching DE "TREATMENT of spinal muscular atrophy"

Results: 147

Science Digest.

Published in:: New Zealand Journal of Medical Laboratory Science, 2018, v. 72, n. 1, p. 29
Publication type:: Article

Does use of the Cough Assist Machine reduce respiratory morbidity for children with neuromuscular disease?

Published in:

New Zealand Journal of Physiotherapy, 2014, v. 42, n. 3, p. 126, doi. 10.15619/nzjp/42.3.03

By:

Phillips, Rachel;
Edwards, Elizabeth;
McNamara, David;
Reed, Peter

Publication type:

Article

Reversal of neuromuscular blockade with sugammadex in a patient with spinal muscular atrophy type III (Kugelberg-Welander syndrome).

Published in:

2012

By:

Vilela, Hugo;
Santos, João;
Colaço, João;
Oliveira, Eduardo;
Canas-da-Silva, Pedro

Publication type:

Letter

Gene-Targeted Therapies and Palliative Care in Children with Spinal Muscular Atrophy Type I: No Intrinsic Contradiction.

Published in:

2021

By:

von der Hagen, Maja;
Nolte-Buchholtz, Silke;
Janisch, Maria;
Pietz, Joachim;
Blankenburg, Markus;
Ziegler, Andreas

Publication type:

Letter

Spinal muscular atrophy.

Published in:

Journal of Paediatrics & Child Health, 2018, v. 54, n. 5, p. 589, doi. 10.1111/jpc.13912

By:

Isaacs, David

Publication type:

Article

Spinal muscular atrophy-1 and gastrostomy.

Published in:

Journal of Paediatrics & Child Health, 2014, v. 50, n. 7, p. 575, doi. 10.1111/jpc.12665

By:

McAdam, Cathy

Publication type:

Article

Clinical Trials in Motor Neuron Diseases.

Published in:

Journal of Child Neurology, 1999, v. 14, n. 3, p. 173

By:

Miller, Robert G.

Publication type:

Article

Disease Mechanisms and Therapeutic Approaches in Spinal Muscular Atrophy.

Published in:

Journal of Neuroscience, 2015, v. 35, n. 23, p. 8691, doi. 10.1523/JNEUROSCI.0417-15.2015

By:

Tisdale, Sarah;
Pellizzoni, Livio

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

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

Published in:

Haydarpaşa 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

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

Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle.

Published in:

2019

By:

Vita, Giuseppe;
Vita, Gian Luca;
Musumeci, Olimpia;
Rodolico, Carmelo;
Messina, Sonia

Publication type:

journal article

Intrathecal administration of Nusinersen in type 1 SMA: successful psychological program in a single Italian center.

Published in:

2018

By:

La Foresta, Stefania;
Faraone, Cristina;
Sframeli, Maria;
Vita, Gian Luca;
Russo, Massimo;
Profazio, Claudia;
Rulli, Immacolata;
Gitto, Eloisa;
Versaci, Antonio;
Messina, Sonia;
Vita, Giuseppe

Publication type:

journal 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

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

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

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

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

Achieving High-Quality Patient Outcomes in Spinal Muscular Atrophy: A Review of New Data and Managed Care Strategies.

Published in:: 2021
Publication type:: Test/Instrument

Management of Critically Ill Patients With Spinal Muscular Atrophy Admitted With Acute Respiratory Failure: The Authors' Reply.

Published in:

2023

By:

Al-Subu, Awni M.;
Brazelton, Thomas B.

Publication type:

Letter to the Editor

A Paradigm Shift for the Management of Critically Ill Patients With Spinal Muscular Atrophy.

Published in:

2023

By:

Bach, John R.;
Palmieri, John L.

Publication type:

Letter to the Editor

Management of Critically Ill Patients With Spinal Muscular Atrophy Admitted With Acute Respiratory Failure.

Published in:

Respiratory Care, 2023, v. 68, n. 2, p. 247, doi. 10.4187/respcare.10353

By:

Al-Subu, Awni M.;
Adams, Carolyn K.;
Dykstra, Scarlett A.;
Langkamp, Miranda R.;
Yngsdal-Krenz, Rhonda A.;
Al Subu, Rand M.;
Zhumin Zhang;
Baker, Kimberly N.;
Brazelton, Thomas B.

Publication type:

Article

Five-Year Follow-Up and Outcomes of Noninvasive Ventilation in Subjects With Neuromuscular Diseases.

Published in:

Respiratory Care, 2018, v. 63, n. 3, p. 274, doi. 10.4187/respcare.05475

By:

Mi Ri Suh;
Won Ah Choi;
Dong Hyun Kim;
Jang Woo Lee;
Eun Young Kim;
Seong-Woong Kang

Publication type:

Article

High-Frequency Chest-Wall Oscillation in a Noninvasive-Ventilation-Dependent Patient With Type 1 Spinal Muscular Atrophy.

Published in:

Respiratory Care, 2011, v. 56, n. 11, p. 1840, doi. 10.4187/respcare.01155

By:

Keating, Joanna M.;
Collins, Nicola;
Bush, Andrew;
Chatwin, Michelle

Publication type:

Article

Interventions for Spinal Muscular Atrophy.

Published in:

Applied Radiology, 2023, v. 52, n. 3, p. 53, doi. 10.37549/ar2891

By:

Desai, Janki;
Towbin, Richard B.;
Schaefer, Carrie M.;
Towbin, Alexander J.

Publication type:

Article

Onasemnogene Abeparvovec: Post-infusion Efficacy and Safety in Patients With Spinal Muscular Atrophy (SMA)—A Fondazione Policlinico Gemelli IRCCS Experience.

Published in:

Hospital Pharmacy, 2024, v. 59, n. 1, p. 39, doi. 10.1177/00185787231182562

By:

Favia, Michele;
Tarantino, Domenico;
Cerbo, Lidia Di;
Sabia, Antonella;
Campopiano, Rina;
Pani, Marcello

Publication type:

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

Two breakthrough gene-targeted treatments for spinal muscular atrophy: challenges remain.

Published in:

2018

By:

Sumner, Charlotte J.;
Crawford, Thomas O.

Publication type:

journal article

Of SMN in mice and men: a therapeutic opportunity.

Published in:

2011

By:

Swoboda, Kathryn J.

Publication type:

commentary

Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy.

Published in:

2011

By:

Lutz, Cathleen M.;
Kariya, Shingo;
Patruni, Sunita;
Osborne, Melissa A.;
Liu, Don;
Henderson, Christopher E.;
Li, Darrick K.;
Pellizzoni, Livio;
Rojas, José;
Valenzuela, David M.;
Murphy, Andrew J.;
Winberg, Margaret L.;
Monani, Umrao R.;
Rojas, José

Publication type:

journal article

A comprehensive institutional overview of intrathecal nusinersen injections for spinal muscular atrophy.

Published in:

2018

By:

Mousa, Mohammad A.;
Aria, David J.;
Schaefer, Carrie M.;
Kaye, Robin D.;
Abruzzo, Todd A.;
Bernes, Saunder M.;
Willard, Scott D.;
Riemann, Monique C.;
Towbin, Richard B.

Publication type:

journal article

Transforaminal intrathecal delivery of nusinersen using cone-beam computed tomography for children with spinal muscular atrophy and extensive surgical instrumentation: early results of technical success and safety.

Published in:

2018

By:

Weaver, John J.;
Shaw, Dennis W. W.;
Koo, Kevin S. H.;
Shivaram, Giri M.;
Monroe, Eric J.;
Natarajan, Niranjana;
Apkon, Susan D.

Publication type:

journal 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

Response to the Canadian Agency for Drugs and Technologies in Health and Institut national d'excellence en santé et en services sociaux decision regarding nusinersen for Spinal Muscular Atrophy.

Published in:

Canadian Journal of Neurological Sciences, 2018, v. 45, n. 5, p. 516, doi. 10.1017/cjn.2018.59

By:

Campbell, Craig;
Selby, Kathy;
McMillan, Hugh;
Vajsar, Jiri;
Korngut, Lawrence;
Brais, Bernard;
MacKenzie, Alex;
Oskoui, Maryam

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

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

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

Feasibility of Using Microsoft Kinect to Assess Upper Limb Movement in Type III Spinal Muscular Atrophy Patients.

Published in:

PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0170472

By:

Chen, Xing;
Siebourg-Polster, Juliane;
Wolf, Detlef;
Czech, Christian;
Bonati, Ulrike;
Fischer, Dirk;
Khwaja, Omar;
Strahm, Martin

Publication type:

Article

Activin Receptor Type IIB Inhibition Improves Muscle Phenotype and Function in a Mouse Model of Spinal Muscular Atrophy.

Published in:

PLoS ONE, 2016, v. 11, n. 11, p. 1, doi. 10.1371/journal.pone.0166803

By:

Liu, Min;
Hammers, David W.;
Barton, Elisabeth R.;
Sweeney, H. Lee

Publication type:

Article

Spontaneous Breathing Pattern as Respiratory Functional Outcome in Children with Spinal Muscular Atrophy (SMA).

Published in:

PLoS ONE, 2016, v. 11, n. 11, p. 1, doi. 10.1371/journal.pone.0165818

By:

LoMauro, A.;
Aliverti, A.;
Mastella, C.;
Arnoldi, M. T.;
Banfi, P.;
Baranello, G.

Publication type:

Article

Altered mRNA Splicing in SMN-Depleted Motor Neuron-Like Cells.

Published in:

PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0163954

By:

Custer, Sara K.;
Gilson, Timra D.;
Li, Hongxia;
Todd, A. Gary;
Astroski, Jacob W.;
Lin, Hai;
Liu, Yunlong;
Androphy, Elliot J.

Publication type:

Article

Histopathological Defects in Intestine in Severe Spinal Muscular Atrophy Mice Are Improved by Systemic Antisense Oligonucleotide Treatment.

Published in:

PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0155032

By:

Sintusek, Palittiya;
Catapano, Francesco;
Angkathunkayul, Napat;
Marrosu, Elena;
Parson, Simon H.;
Morgan, Jennifer E.;
Muntoni, Francesco;
Zhou, Haiyan

Publication type:

Article

Selective Neuromuscular Denervation in Taiwanese Severe SMA Mouse Can Be Reversed by Morpholino Antisense Oligonucleotides.

Published in:

PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0154723

By:

Lin, Te-Lin;
Chen, Tai-Heng;
Hsu, Ya-Yun;
Cheng, Yu-Hua;
Juang, Bi-Tzen;
Jong, Yuh-Jyh

Publication type:

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

Intrathecal administration of nusinersen in adolescent and adult SMA type 2 and 3 patients.

Published in:

Journal of Neurology, 2019, v. 266, n. 1, p. 183, doi. 10.1007/s00415-018-9124-0

By:

Wurster, Claudia D.;
Winter, Benedikt;
Wollinsky, Kurt;
Ludolph, Albert C.;
Uzelac, Zeljko;
Witzel, Simon;
Schocke, Michael;
Schneider, Ralf;
Kocak, Tugrul

Publication type:

Article