Full Text Journal Articles about
Spinal Muscular Atrophy

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Electrical stimulation and denervated muscles after spinal cord injury.

Subhalakshmi Chandrasekaran, John Davis, Ines Bersch, Gary Goldberg, Ashraf S Gorgey,

Spinal cord injury (SCI) population with injury below T10 or injury to the cauda equina region is characterized by denervated muscles, extensive muscle atrophy, infiltration of intramuscular fat and formation of fibrous tissue. These morphological changes may put individuals with SCI at higher risk for developing other diseases such as ... Read more >>

Neural Regen Res (Neural regeneration research)
[2020, 15(8):1397-1407]

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Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population.

Jong Eun Park, Sun Ae Yun, Eun Youn Roh, Jong Hyun Yoon, Sue Shin, Chang Seok Ki,

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by progressive proximal muscle weakness and atrophy. Given the recent introduction of gene therapies, knowledge of the SMA carrier frequency in various populations has become important for developing screening programs for this disease. In total, 1,581 anonymous DNA samples from ... Read more >>

Ann Lab Med (Annals of laboratory medicine)
[2020, 40(4):326-330]

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The Role of Sex and Sex Hormones in Neurodegenerative Diseases.

Elisabetta Vegeto, Alessandro Villa, Sara Della Torre, Valeria Crippa, Paola Rusmini, Riccardo Cristofani, Mariarita Galbiati, Adriana Maggi, Angelo Poletti,

Neurodegenerative diseases (NDs) are a wide class of disorders of the central nervous system (CNS) with unknown etiology. Several factors were hypothesized to be involved in the pathogenesis of these diseases, including genetic and environmental factors. Many of these diseases show a sex prevalence and sex steroids were shown to ... Read more >>

Endocr. Rev. (Endocrine reviews)
[2020, 41(2):]

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The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.

Daniel C Koboldt, Megan A Waldrop, Richard K Wilson, Kevin M Flanigan,

The bicaudal D cargo adaptor 2 (BICD2) gene encodes a conserved cargo adaptor protein required for dynein-mediated transport. Inherited and de novo variants in BICD2 cause SMALED2 (spinal muscular atrophy lower extremity dominant 2), and a subset have recently been reported to cause severe, often lethal disease. However, a true ... Read more >>

Ann. Neurol. (Annals of neurology)
[2020, 87(4):487-496]

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Children With Spinal Muscular Atrophy With Prior Growth-Friendly Spinal Implants Have Better Results After Definite Spinal Fusion in Comparison to Untreated Patients.

Anna K Hell, Lena Braunschweig, Konstantinos Tsaknakis, Urs von Deimling, Katja A Lüders, Marina Hecker, Heiko M Lorenz,

BACKGROUND:Almost all children with spinal muscular atrophy (SMA) develop a scoliosis during childhood and adolescence. In the last decades, growth-friendly spinal implants have been established as an interim solution for these patients until definite spinal fusion can be performed. The effect of those implants on the final outcome has yet ... Read more >>

Neurosurgery (Neurosurgery)
[2020, :]

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Onasemnogene Abeparvovec-xioi: Gene Therapy for Spinal Muscular Atrophy.

Debra Stevens, Melanie K Claborn, Brooke L Gildon, Tiffany L Kessler, Cheri Walker,

Objective: To review the efficacy and safety of onasemnogene abeparvovec-xioi (Zolgensma) in the treatment of spinal muscular atrophy (SMA). Data Sources: An English-language literature search of PubMed, MEDLINE, and Ovid (1946 to December 2019) was completed using the terms onasemnogene, AVXS-101, and spinal muscular atrophy. Manufacturer prescribing information, article bibliographies, ... Read more >>

Ann Pharmacother (The Annals of pharmacotherapy)
[2020, :1060028020914274]

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Significance of Dynamic Imaging in Diagnosis of Hirayama Disease: A Rare Case Report and Literature Review.

Gautham R. Kandukuri, Natasha R. Acosta,

Kans J Med (Kansas Journal of Medicine)
[2020, 13:58-60]

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[Result of carrier screening for spinal muscular atrophy among 3049 reproductive-age individuals from Yunnan region].

Yinhong Zhang, Lei Wang, Jing He, Jingjing Guo, Chanchan Jin, Xinhua Tang, Jinman Zhang, Hong Chen, Jie Zhang, Jie Su, Baosheng Zhu,

OBJECTIVE:To perform carrier screening for spinal muscular atrophy (SMA) among 3049 reproductive-age individuals from Yunnan region and determine the copy number of survival motor neuron (SMN) gene and carrier frequencies. METHODS:Multiplex ligation-dependent probe amplification (MLPA) was used to determine the copy number of exon 7 of SMN1 and SMN2 genes ... Read more >>

Zhonghua Yi Xue Yi Chuan Xue Za Zhi (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics)
[2020, 37(4):384-388]

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Magnetic Resonance Imaging of Trunk Musculature and Intervertebral Discs in Patients with Spinal Cord Injury with Thoracolumbar Vertebral Fractures: A Prospective Study.

Roop Singh, Jitendra Wadhwani, Gaurav Punia, Rajesh Kumar Rohilla, Kiranpreet Kaur,

Study Design:This study is a prospective clinical study. Purpose:This study aims to evaluate the characteristics of trunk musculature and intervertebral discs by using magnetic resonance imaging in patients with spinal cord injuries (SCIs) with thoracic and lumbar fractures. Overview of Literature:Muscle atrophy is an immediate consequence of SCI and is ... Read more >>

Asian Spine J (Asian spine journal)
[2020, :]

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Iliopsoas Release in Hip Arthroscopy: Assessment of Muscle Atrophy.

Karan A Patel, Mark S Collins, Brian A Cazan, Aaron J Krych, Bruce A Levy, David E Hartigan,

Iliopsoas release is a common procedure for coxa saltans interna of the hip. The possible sequelae from this surgery have not been well studied. The purpose of this study was to determine postoperative atrophy and morphology of the cut tendon. This retrospective review included patients who underwent arthroscopic iliopsoas release ... Read more >>

Orthopedics (Orthopedics)
[2020, :1-6]

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GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.

Rebecca Markovitz, Rajarshi Ghosh, Molly E Kuo, William Hong, Jaehyung Lim, Saunder Bernes, Stephanie Manberg, Kathleen Crosby, Pranoot Tanpaiboon, Diana Bharucha-Goebel, Carsten Bonnemann, Carrie A Mohila, Elizabeth Mizerik, Suzanne Woodbury, Weimin Bi, Timothy Lotze, Anthony Antonellis, Rui Xiao, Lorraine Potocki,

The majority of patients with spinal muscular atrophy (SMA) identified to date harbor a biallelic exonic deletion of SMN1. However, there have been reports of SMA-like disorders that are independent of SMN1, including those due to pathogenic variants in the glycyl-tRNA synthetase gene (GARS1). We report three unrelated patients with ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Rate of Information Flow Across Layered Neuro-spike Network in the Spinal Cord.

Meltem Civas, Ozgur B Akan,

Spinal Cord Injury (SCI) is a serious condition that can result in loss of motor and sensory functions by disrupting communication among neurons, i.e., neuro-spike communication. Future information and communication technology (ICT) based treatment techniques for SCI are expected to rely on nano networks, deployed inside the body. In this ... Read more >>

IEEE Trans Nanobioscience (IEEE transactions on nanobioscience)
[2020, :]

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Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study.

Tim Hagenacker, Claudia D Wurster, René Günther, Olivia Schreiber-Katz, Alma Osmanovic, Susanne Petri, Markus Weiler, Andreas Ziegler, Josua Kuttler, Jan C Koch, Ilka Schneider, Gilbert Wunderlich, Natalie Schloss, Helmar C Lehmann, Isabell Cordts, Marcus Deschauer, Paul Lingor, Christoph Kamm, Benjamin Stolte, Lena Pietruck, Andreas Totzeck, Kathrin Kizina, Christoph Mönninghoff, Otgonzul von Velsen, Claudia Ose, Heinz Reichmann, Michael Forsting, Astrid Pechmann, Janbernd Kirschner, Albert C Ludolph, Andreas Hermann, Christoph Kleinschnitz,

BACKGROUND:Nusinersen is approved for the treatment of 5q spinal muscular atrophy of all types and stages in patients of all ages. Although clinical trials have shown improvements in motor function in infants and children treated with the drug, data for adults are scarce. We aimed to assess the safety and ... Read more >>

Lancet Neurol (The Lancet. Neurology)
[2020, 19(4):317-325]

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The light at the end of the tunnel gets vivid for spinal muscular atrophy: An Editorial Highlight for "Cerebrospinal fluid proteomic profiling in nusinersen-treated patients with spinal muscular atrophy" on https://doi.org/10.1111/jnc.14953.

Debashis Dutta, Goutam Chandra, Kochupurackal P Mohanakumar,

Kessler et al. in this current issue have attempted to discern biomarker(s) for spinal muscular atrophy (SMA) by assessing alterations in cerebrospinal fluid (CSF) proteomics profile. Recently, antisense oligonucleotide (nusinersen) therapy is shown to mitigate pathologies and provide behavioral improvements in patients. This Editorial highlights the study by Kessler et ... Read more >>

J. Neurochem. (Journal of neurochemistry)
[2020, :]

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Carrier screening and prenatal diagnosis for Spinal Muscular Atrophy in 13 069 Chinese pregnant women.

Jingjing Zhang, Yuguo Wang, Dingyuan Ma, Yun Sun, Yahong Li, Peiying Yang, Chunyu Luo, Tao Jiang, Ping Hu, Zhengfeng Xu,

Spinal muscular atrophy (SMA) is a relatively common, life-shortening, autosomal recessive neuromuscular disease. The carrier frequency of SMA ranges from approximately 0.98% to 2.02% depending on ethnicity. The American College of Medical Genetics has therefore recommended population screening for SMA carrier status, regardless of race or ethnicity. We carried out ... Read more >>

J Mol Diagn (The Journal of molecular diagnostics : JMD)
[2020, :]

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Deterioration of muscle force and contractile characteristics are early pathological events in spinal and bulbar muscular atrophy mice.

Anna L Gray, Leonette Annan, James R T Dick, Albert R La Spada, Michael G Hanna, Linda Greensmith, Bilal Malik,

Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's Disease, is a late-onset, X-linked, progressive neuromuscular disease, which predominantly affects males. The pathological hallmarks of the disease are defined by selective loss of spinal and bulbar motor neurons, accompanied by weakness, atrophy and fasciculations of bulbar and limb muscles. ... Read more >>

Dis Model Mech (Disease models & mechanisms)
[2020, :]

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Population-based analysis of survival in spinal muscular atrophy.

Camiel A Wijngaarde, Marloes Stam, Louise A M Otto, Ruben P A van Eijk, Inge Cuppen, Esther S Veldhoen, Leonard H van den Berg, Renske I Wadman, W Ludo van der Pol,

OBJECTIVE:To investigate probabilities of survival and its surrogate, that is, mechanical ventilation, in patients with spinal muscular atrophy (SMA). METHODS:We studied survival in a population-based cohort on clinical prevalence of genetically confirmed, treatment-naive patients with SMA, stratified for best acquired motor milestone (i.e., none: type 1a/b; head control in supine ... Read more >>

Neurology (Neurology)
[2020, :]

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[Clinical practice guidelines for spinal muscular atrophy].

Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Jianyan Pan, Hu Tan, Miaojin Zhou, Desheng Liang, Lingqian Wu,

Spinal muscular atrophy (SMA) is one of the most common fatal autosomal recessive genetic disorders among infants. It is caused by mutations of motor neuron survival gene 1 (SMN1). The incidence of SMA among newborns is approximately 1/10 000 - 1/6000, and the carrier rate is 1/72 - 1/47 with ... Read more >>

Zhonghua Yi Xue Yi Chuan Xue Za Zhi (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics)
[2020, 37(3):263-268]

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Impact of Spinal Muscular Atrophy on Caregivers’ Daily Activities and Health-related Quality of Life

Komal Bawa, Er Chen, Josh Noone, Sarah Whitmire, Buchenberger, Arnold, Rosalina Mills, Stacy Dixon,

<title>Abstract</title> <p> Background Spinal muscular atrophy (SMA) is a genetic debilitating disease affecting approximately 10,000 individuals in the United States. Individuals with SMA frequently require caregiver support and care. Through a partnership with a large patient organization, we surveyed caregivers of individuals with SMA below 18 years of ... Read more >>

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Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?

Maria Carmela Pera, Giorgia Coratti, Beatrice Berti, Adele D'Amico, Maria Sframeli, Emilio Albamonte, Roberto de Sanctis, Sonia Messina, Michela Catteruccia, Giorgia Brigati, Laura Antonaci, Simona Lucibello, Claudio Bruno, Valeria A Sansone, Enrico Bertini, Danilo Tiziano, Marika Pane, Eugenio Mercuri,

BACKGROUND:The advent of new therapies has increased the need to achieve early diagnosis in Spinal Muscular Atrophy (SMA). The aim of the present study was to define the age of diagnosis in the three main types of SMA with pediatric-onset and the timing between the recognition of clinical signs and ... Read more >>

PLoS ONE (PloS one)
[2020, 15(3):e0230677]

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Experiences from treating seven adult 5q spinal muscular atrophy patients with Nusinersen.

Elisabeth Jochmann, Robert Steinbach, Thomas Jochmann, Ha-Yeun Chung, Annekathrin Rödiger, Rotraud Neumann, Thomas E Mayer, Klaus Kirchhof, Dana Loudovici-Krug, Ulrich C Smolenski, Otto W Witte, Julian Grosskreutz,

Background:The antisense oligonucleotide Nusinersen recently became the first approved drug against spinal muscular atrophy (SMA). It was approved for all ages, albeit the clinical trials were conducted exclusively on children. Hence, clinical data on adults being treated with Nusinersen is scarce. In this case series, we report on drug application, ... Read more >>

Ther Adv Neurol Disord (Therapeutic Advances in Neurological Disorders)
[2020, 13:1756286420907803]

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A Pathogenic Missense Variant (c.1617G>A, p.Met539Ile) in UBA1 Causing Infantile X-Linked Spinal Muscular Atrophy (SMAX2).

Xin Hua Wang, Lin Mei Zhang, Xue Yang, Shui Zhen Zhou,

Background: Infantile X-linked spinal muscular atrophy (SMAX2) is a rare type of spinal muscular atrophy associated with UBA1 variants. Methods: Clinical imaging and neurophysiological tests were performed on a Chinese patient with SMAX2. Further, focused panel sequencing of UBA1 was carried out on samples of both the proband and his ... Read more >>

Front Pediatr (Frontiers in Pediatrics)
[2020, 8:64]

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Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Martina G L Perego, Noemi Galli, Monica Nizzardo, Alessandra Govoni, Michela Taiana, Nereo Bresolin, Giacomo P Comi, Stefania Corti,

Spinal muscular atrophy (SMA) with respiratory distress type 1 (SMARD1) is an autosomal recessive motor neuron disease that is characterized by distal and proximal muscle weakness and diaphragmatic palsy that leads to respiratory distress. Without intervention, infants with the severe form of the disease die before 2 years of age. SMARD1 ... Read more >>

Cell. Mol. Life Sci. (Cellular and molecular life sciences : CMLS)
[2020, :]

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Direct Medical Costs of Spinal Muscular Atrophy in the Catalonia Region: A Population-Based Analysis.

Josep Darbà,

BACKGROUND:Spinal muscular atrophy (SMA) is a rare disorder, estimated to affect 1 per 10,000 live births. Patients affected with SMA often require intensive, chronic healthcare, which represents great social and economic costs. OBJECTIVE:This study aimed to evaluate the direct medical costs of SMA, from the National Health System perspective in ... Read more >>

Clin Drug Investig (Clinical drug investigation)
[2020, :]

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Mutation analysis and prenatal diagnosis of 419 cases of Spinal Muscular Atrophy in China

Xiangdong Kong, YingJie Sun, Xuechao Zhao, Zhenhua Zhao,

<title>Abstract</title> <p> Background Spinal muscular atrophy (SMA) is a common and lethal autosomal recessive neurodegenerative disease, which is caused by mutations of the survival motor neuron 1 (SMN1) gene. At present, the gene therapy medicine for SMA, i.e. , Spinraza (Nusinersen), has been approved by the FDA, bringing ... Read more >>

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