Works matching DE "TREATMENT of spinal muscular atrophy"

Results: 147

The Improvement of Reliability of High-k/Metal Gate pMOSFET Device with Various PMA Conditions.

Published in:

Active & Passive Electronic Components, 2012, p. 1, doi. 10.1155/2012/872494

By:

Yi-Lin Yang;
Wenqi Zhang;
Chi-Yun Cheng;
Wen-kuan Yeh

Publication type:

Article

Transcriptional profiling of differentially vulnerable motor neurons at pre-symptomatic stage in the Smn<sup>2b/-</sup> mouse model of spinal muscular atrophy.

Published in:

Acta Neuropathologica Communications, 2015, v. 3, p. 1, doi. 10.1186/s40478-015-0231-1

By:

Murray, Lyndsay M.;
Beauvais, Ariane;
Gibeault, Sabrina;
Courtney, Natalie L.;
Kothary, Rashmi

Publication type:

Article

Spinal muscular atrophy disease: a literature review for therapeutic strategies.

Published in:

Journal of Medicine & Life, 2010, v. 3, n. 1, p. 3

By:

Stavarachi, M.;
Apostol, P.;
Toma, M.;
Cimponeriu, D.;
Gavrila, L.

Publication type:

Article

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

SMN Transcript Stability: Could Modulation of Messenger RNA Degradation Provide a Novel Therapy for Spinal Muscular Atrophy?

Published in:

Journal of Child Neurology, 2007, v. 22, n. 8, p. 1013, doi. 10.1177/0883073807305669

By:

Heier, Christopher R.;
Gogliotti, Rocky G.;
Didonato, Christine J.

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

Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.

Published in:

2017

By:

Verhaart, Ingrid E. C.;
Robertson, Agata;
Wilson, Ian J.;
Aartsma-Rus, Annemieke;
Cameron, Shona;
Jones, Cynthia C.;
Cook, Suzanne F.;
Lochmüller, Hanns

Publication type:

journal article

Disease burden of spinal muscular atrophy in Germany.

Published in:

2016

By:

Klug, Constanze;
Schreiber-Katz, Olivia;
Thiele, Simone;
Schorling, Elisabeth;
Zowe, Janet;
Reilich, Peter;
Walter, Maggie C.;
Nagels, Klaus H.

Publication type:

journal article

Increase of hyperpolarization-activated cyclic nucleotide-gated current in the aberrant excitability of spinal muscular atrophy.

Published in:

2018

By:

Lai, Hsing‐Jung;
Chen, Chien‐Lin;
Tsai, Li‐Kai;
Lai, Hsing-Jung;
Chen, Chien-Lin;
Tsai, Li-Kai

Publication type:

journal article

Emerging therapies and challenges in spinal muscular atrophy.

Published in:

2017

By:

Farrar, Michelle A.;
Park, Susanna B.;
Vucic, Steve;
Carey, Kate A.;
Turner, Bradley J.;
Gillingwater, Thomas H.;
Swoboda, Kathryn J.;
Kiernan, Matthew C.

Publication type:

journal article

The Safety and Efficacy of Nusinersen in the Treatment of Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.

Published in:

Medicina (1010660X), 2022, v. 58, n. 2, p. 213, doi. 10.3390/medicina58020213

By:

Abbas, Kirellos Said;
Eltaras, Mennatullah Mohamed;
El-Shahat, Nahla Ahmed;
Abdelazeem, Basel;
Shaqfeh, Mahmoud;
Brašić, James Robert

Publication type:

Article

Correction: "...They were just treating her Symptom by Symptom": maternal experiences of having a child with spinal muscular atrophy in Ghana.

Published in:

2025

By:

Tawiah, Esther Doe-Yo;
Sarfo, Jacob Owusu

Publication type:

Correction Notice

"...They were just treating her Symptom by Symptom": maternal experiences of having a child with spinal muscular atrophy in Ghana.

Published in:

BMC Palliative Care, 2025, v. 24, n. 1, p. 1, doi. 10.1186/s12904-025-01730-5

By:

Tawiah, Esther Doe-Yo;
Sarfo, Jacob Owusu

Publication type:

Article

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

Fatigue in adults with spinal muscular atrophy under treatment with nusinersen.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-68051-w

By:

Kizina, K.;
Stolte, B.;
Totzeck, A.;
Bolz, S.;
Schlag, M.;
Ose, C.;
von Velsen, O.;
Kleinschnitz, C.;
Hagenacker, Tim

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

Multiple injections of human umbilical cord-derived mesenchymal stromal cells through the tail vein improve microcirculation and the microenvironment in a rat model of radiation myelopathy.

Published in:

Journal of Translational Medicine, 2014, v. 12, n. 1, p. 1, doi. 10.1186/s12967-014-0246-6

By:

Li Wei;
Jing Zhang;
Xiu-Bin Xiao;
Hai-Xing Mai;
Ke Zheng;
Wan-Liang Sun;
Lei Wang;
Feng Liang;
Zai-Liang Yang;
Yuan Liu;
Yan-Qing Wang;
Zhi-Fang Li;
Jia-Ning Wang;
Zhang, Wei-Jing;
Hua You

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 for Treating Pre-symptomatic Spinal Muscular Atrophy: An External Assessment Group Perspective of the Partial Review of NICE Highly Specialised Technology Evaluation 15.

Published in:

PharmacoEconomics - Open, 2023, v. 7, n. 6, p. 863, doi. 10.1007/s41669-023-00439-6

By:

Chaplin, Marty;
Bresnahan, Rebecca;
Fleeman, Nigel;
Mahon, James;
Houten, Rachel;
Beale, Sophie;
Boland, Angela;
Dundar, Yenal;
Marsden, Ashley;
Munot, Pinki

Publication type:

Article

Case of spinal muscular atrophy type 0 with mild prognosis.

Published in:

2020

By:

Kitaoka, Hiroki;
Shitara, Yoshihiko;
Uchida, Yumi;
Kondo, Utako;
Omori, Isaku

Publication type:

Case Study

Use of pediatric Tracheal Stoma Retainer<sup>®</sup> in a 24‐year‐old spinal muscular atrophy patient.

Published in:

2018

By:

Ito, Hidekazu;
Sobue, Kazuya

Publication type:

Case Study

Nusinersen and sleep in children with spinal muscular atrophy.

Published in:: 2018
Publication type:: Abstract

Treatment Options in Spinal Muscular Atrophy: A Pragmatic Approach for Clinicians.

Published in:

Drugs, 2024, v. 84, n. 7, p. 747, doi. 10.1007/s40265-024-02051-2

By:

Ramdas, Sithara;
Oskoui, Maryam;
Servais, Laurent

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

Přehled nových, a ještě novějších léků na Duchennovu svalovou dystrofii a spinální svalovou atrofii.

Published in:

Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2019, v. 74, n. 3, p. 141

By:

Bálintová, Z.;
Juříková, L.;
Havlín, O.

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

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

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

EL MEJOR INTERÉS DEL NIÑO CON SMA I. REFLEXIONES SOBRE LOS TRATAMIENTOS DE SOPORTE VITAL EN NIÑOS CON ATROFIA MUSCULAR ESPINAL TIPO I.

Published in:: 2014
Publication type:: Book Review

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

Treatment for Spinal Muscular Atrophy.

Published in:

Neurology Alert, 2017, v. 37, n. 4, p. 1

By:

Knox, Renatta;
Segal, Devorah

Publication type:

Article

Does pre-operative magnetic resonance imaging of the lumbar multifidus muscle predict clinical outcomes following lumbar spinal decompression for symptomatic spinal stenosis?

Published in:

2017

By:

Zotti, Mario;
Boas, F.;
Clifton, T.;
Piche, M.;
Yoon, W.;
Freeman, B.;
Zotti, Mario G T;
Boas, F Vilas;
Yoon, W W;
Freeman, B J C

Publication type:

journal article

Association between paraspinal muscle morphology, clinical symptoms and functional status in patients with lumbar spinal stenosis.

Published in:

2017

By:

Fortin, Maryse;
Lazáry, Àron;
Varga, Peter;
Battié, Michele;
Lazáry, Àron;
Varga, Peter Paul;
Battié, Michele C

Publication type:

journal article

Intravenous administration of granulocyte colony-stimulating factor for treating neuropathic pain associated with compression myelopathy: a phase I and IIa clinical trial.

Published in:

European Spine Journal, 2013, v. 22, n. 1, p. 197, doi. 10.1007/s00586-012-2556-9

By:

Kato, Kei;
Yamazaki, Masashi;
Okawa, Akihiko;
Furuya, Takeo;
Sakuma, Tsuyoshi;
Takahashi, Hiroshi;
Kamiya, Koshiro;
Inada, Taigo;
Takahashi, Kazuhisa;
Koda, Masao

Publication type:

Article

Surgical results of anterior corpectomy in the aged patients with cervical myelopathy.

Published in:

European Spine Journal, 2008, v. 17, n. 1, p. 129, doi. 10.1007/s00586-007-0518-4

By:

Jun Lu;
Xiaotao Wu;
Yonggang Li;
Xiangfei Kong

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

APPLICATION OF SPORT ELEMENTS IN GENERAL KINESITHERAPEUTIC PROGRAM IN CHILDREN WITH SPINAL MUSCULAR ATROPHY.

Published in:

Activities in Physical Education & Sport, 2014, v. 4, n. 2, p. 214

By:

Kostadinova-Petrova, Slava

Publication type:

Article

Odontoid Non Union with Myelopathy - "Joint Jamming Procedure" with Posterior C1-C2 Lateral Mass Fusion.

Published in:

2012

By:

Vinod V.;
Antony J.;
Mani N. J.

Publication type:

Case Study

Nutritional, Gastrointestinal and Endo-Metabolic Challenges in the Management of Children with Spinal Muscular Atrophy Type 1.

Published in:

Nutrients, 2021, v. 13, n. 7, p. 2400, doi. 10.3390/nu13072400

By:

Corsello, Antonio;
Scatigno, Lorenzo;
Pascuzzi, Martina Chiara;
Calcaterra, Valeria;
Dilillo, Dario;
Vizzuso, Sara;
Pelizzo, Gloria;
Zoia, Elena;
Mandelli, Anna;
Govoni, Annalisa;
Bosetti, Alessandra;
Francavilla, Ruggiero;
Indrio, Flavia;
Fabiano, Valentina;
Zuccotti, Gian Vincenzo;
Verduci, Elvira

Publication type:

Article