Relevant bibliographies by topics / Spinal muscular atrophy; Neurodegenerative

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'Spinal muscular atrophy; Neurodegenerative'

Author: Grafiati
Published: 4 June 2021
Last updated: 8 February 2022

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Journal articles on the topic "Spinal muscular atrophy; Neurodegenerative"

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Agrawal, Priyanka, and Pradnya Kulkarni. "An Unusual Presentation of Bilateral Vocal Fold Paralysis due to Spinal Muscular Atrophy." International Journal of Phonosurgery & Laryngology 4, no. 1 (2014): 27–29. http://dx.doi.org/10.5005/jp-journals-10023-1075.

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ABSTRACT Background Spinal muscular atrophy is a rare autosomal recessive neurodegenerative disorder. We report a case of 62-year-old female of spinal muscular atrophy presenting with bilateral vocal fold paralysis, her diagnosis and management. Objective Case report of a case of spinal muscular atrophy presenting with bilateral vocal fold paralysis. Conclusion Spinomuscular atrophy though rarely associated with laryngeal symptoms should be kept in mind as a possible etiology of bilateral vocal fold paralysis. The surgical decision and the postoperative sequeale will be affected due to the presence of this disease and thus a high index of suspicion is required. How to cite this article Nerurkar NK, Deshmukh S, Agrawal P, Kulkarni P. An Unusual Presentation of Bilateral Vocal Fold Paralysis due to Spinal Muscular Atrophy. Int J Phonosurg Laryngol 2014;4(1):27-29.
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Bennett, C. Frank, Adrian R. Krainer, and Don W. Cleveland. "Antisense Oligonucleotide Therapies for Neurodegenerative Diseases." Annual Review of Neuroscience 42, no. 1 (July 8, 2019): 385–406. http://dx.doi.org/10.1146/annurev-neuro-070918-050501.

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Antisense oligonucleotides represent a novel therapeutic platform for the discovery of medicines that have the potential to treat most neurodegenerative diseases. Antisense drugs are currently in development for the treatment of amyotrophic lateral sclerosis, Huntington's disease, and Alzheimer's disease, and multiple research programs are underway for additional neurodegenerative diseases. One antisense drug, nusinersen, has been approved for the treatment of spinal muscular atrophy. Importantly, nusinersen improves disease symptoms when administered to symptomatic patients rather than just slowing the progression of the disease. In addition to the benefit to spinal muscular atrophy patients, there are discoveries from nusinersen that can be applied to other neurological diseases, including method of delivery, doses, tolerability of intrathecally delivered antisense drugs, and the biodistribution of intrathecal dosed antisense drugs. Based in part on the early success of nusinersen, antisense drugs hold great promise as a therapeutic platform for the treatment of neurological diseases.
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Teoh, Hooi Ling, Kate Carey, Hugo Sampaio, David Mowat, Tony Roscioli, and Michelle Farrar. "Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy." Neural Plasticity 2017 (2017): 1–22. http://dx.doi.org/10.1155/2017/6509493.

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Paediatric motor neuron diseases encompass a group of neurodegenerative diseases characterised by the onset of muscle weakness and atrophy before the age of 18 years, attributable to motor neuron loss across various neuronal networks in the brain and spinal cord. While the genetic underpinnings are diverse, advances in next generation sequencing have transformed diagnostic paradigms. This has reinforced the clinical phenotyping and molecular genetic expertise required to navigate the complexities of such diagnoses. In turn, improved genetic technology and subsequent gene identification have enabled further insights into the mechanisms of motor neuron degeneration and how these diseases form part of a neurodegenerative disorder spectrum. Common pathophysiologies include abnormalities in axonal architecture and function, RNA processing, and protein quality control. This review incorporates an overview of the clinical manifestations, genetics, and pathophysiology of inherited paediatric motor neuron disorders beyond classic SMN1-related spinal muscular atrophy and describes recent advances in next generation sequencing and its clinical application. Specific disease-modifying treatment is becoming a clinical reality in some disorders of the motor neuron highlighting the importance of a timely and specific diagnosis.
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Brooks, Brian P., and Kenneth H. Fischbeck. "Spinal and bulbar muscular atrophy: a trinucleotide-repeat expansion neurodegenerative disease." Trends in Neurosciences 18, no. 10 (October 1995): 459–61. http://dx.doi.org/10.1016/0166-2236(95)94497-s.

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Gavrichenko, A. V., A. I. Kulyakhtin, A. A. Yakovlev, M. G. Sokolova, A. G. Smochilin, V. S. Fedorova, and R. A. Gapeshin. "Spinal and bulbar muscular atrophy (Kennedy’s disease): case description." Scientific Notes of the Pavlov University 26, no. 3 (February 4, 2020): 86–93. http://dx.doi.org/10.24884/1607-4181-2019-26-3-86-93.

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Kennedy’s X-linked spinal and bulbar muscular atrophy is a rare hereditary lower motoneuron neurodegenerative disease, which is based on the genetic defect of the androgen receptor’s first exon (AR), characterized by an abnormal increase of CAG-repeats. This article describes a clinical case of a patient with complaints about low limb weakness, walking distance shortening to 400–500 meters, coordination disturbances, and moderate polyneuropathy. According to complaints, neurological examination and patient’s family history, a genetic study was performed confirming the proposed diagnosis. Following neurometabolic, vitamin, physical therapy, physiotherapy and acupuncture were performed and the patient’s physical activity increasing and intensity of symptoms reduction was achieved. The article also highlights the features of pathogenesis and the prospects for pathogenetic treatment of this disease.
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James, Rachel, Helena Chaytow, Leire M. Ledahawsky, and Thomas H. Gillingwater. "Revisiting the role of mitochondria in spinal muscular atrophy." Cellular and Molecular Life Sciences 78, no. 10 (April 5, 2021): 4785–804. http://dx.doi.org/10.1007/s00018-021-03819-5.

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AbstractSpinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease of variable clinical severity that is caused by mutations in the survival motor neuron 1 (SMN1) gene. Despite its name, SMN is a ubiquitous protein that functions within and outside the nervous system and has multiple cellular roles in transcription, translation, and proteostatic mechanisms. Encouragingly, several SMN-directed therapies have recently reached the clinic, albeit this has highlighted the increasing need to develop combinatorial therapies for SMA to achieve full clinical efficacy. As a subcellular site of dysfunction in SMA, mitochondria represents a relevant target for a combinatorial therapy. Accordingly, we will discuss our current understanding of mitochondrial dysfunction in SMA, highlighting mitochondrial-based pathways that offer further mechanistic insights into the involvement of mitochondria in SMA. This may ultimately facilitate translational development of targeted mitochondrial therapies for SMA. Due to clinical and mechanistic overlaps, such strategies may also benefit other motor neuron diseases and related neurodegenerative disorders.
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Hoolachan, Joseph M., Emma R. Sutton, and Melissa Bowerman. "Teaching an old drug new tricks: repositioning strategies for spinal muscular atrophy." Future Neurology 14, no. 3 (August 2019): FNL25. http://dx.doi.org/10.2217/fnl-2019-0006.

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Spinal muscular atrophy (SMA) is a childhood disorder caused by loss of the SMN gene. Pathological hallmarks are spinal cord motor neuron death, neuromuscular junction dysfunction and muscle atrophy. The first SMN genetic therapy was recently approved and other SMN-dependent treatments are not far behind. However, not all SMA patients will reap their maximal benefit due to limited accessibility, high costs and differential effects depending on timing of administration and disease severity. The repurposing of commercially available drugs is an interesting strategy to ensure more rapid and less expensive access to new treatments. In this mini-review, we will discuss the potential and relevance of repositioning drugs currently used for neurodegenerative, neuromuscular and muscle disorders for SMA.
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Ahmad, Saif, Kanchan Bhatia, Annapoorna Kannan, and Laxman Gangwani. "Molecular Mechanisms of Neurodegeneration in Spinal Muscular Atrophy." Journal of Experimental Neuroscience 10 (January 2016): JEN.S33122. http://dx.doi.org/10.4137/jen.s33122.

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Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease with a high incidence and is the most common genetic cause of infant mortality. SMA is primarily characterized by degeneration of the spinal motor neurons that leads to skeletal muscle atrophy followed by symmetric limb paralysis, respiratory failure, and death. In humans, mutation of the Survival Motor Neuron 1 (SMN1) gene shifts the load of expression of SMN protein to the SMN2 gene that produces low levels of full-length SMN protein because of alternative splicing, which are sufficient for embryonic development and survival but result in SMA. The molecular mechanisms of the (a) regulation of SMN gene expression and (b) degeneration of motor neurons caused by low levels of SMN are unclear. However, some progress has been made in recent years that have provided new insights into understanding of the cellular and molecular basis of SMA pathogenesis. In this review, we have briefly summarized recent advances toward understanding of the molecular mechanisms of regulation of SMN levels and signaling mechanisms that mediate neurodegeneration in SMA.
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Farrar, Michelle A., Steve Vucic, Heather M. Johnston, and Matthew M. Kiernan. "36. Mechanisms of neurodegeneration in spinal muscular atrophy." Journal of Clinical Neuroscience 17, no. 12 (December 2010): 1621. http://dx.doi.org/10.1016/j.jocn.2010.07.037.

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Sen, Anindya, Takakazu Yokokura, Mark W. Kankel, Douglas N. Dimlich, Jan Manent, Subhabrata Sanyal, and Spyros Artavanis-Tsakonas. "Modeling spinal muscular atrophy in Drosophila links Smn to FGF signaling." Journal of Cell Biology 192, no. 3 (February 7, 2011): 481–95. http://dx.doi.org/10.1083/jcb.201004016.

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Spinal muscular atrophy (SMA), a devastating neurodegenerative disorder characterized by motor neuron loss and muscle atrophy, has been linked to mutations in the Survival Motor Neuron (SMN) gene. Based on an SMA model we developed in Drosophila, which displays features that are analogous to the human pathology and vertebrate SMA models, we functionally linked the fibroblast growth factor (FGF) signaling pathway to the Drosophila homologue of SMN, Smn. Here, we characterize this relationship and demonstrate that Smn activity regulates the expression of FGF signaling components and thus FGF signaling. Furthermore, we show that alterations in FGF signaling activity are able to modify the neuromuscular junction defects caused by loss of Smn function and that muscle-specific activation of FGF is sufficient to rescue Smn-associated abnormalities.
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Dissertations / Theses on the topic "Spinal muscular atrophy; Neurodegenerative"

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Chiesa, Giulio. "Biophysical study of the aggregation of the androgen receptor protein in spinal bulbar muscular atrophy." Doctoral thesis, Universitat de Barcelona, 2015. http://hdl.handle.net/10803/400156.

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Spinal bulbar muscular atrophy (SBMA) is a member of the polyglutamine (polyQ) expansion diseases family; the most famous of which is Huntington disease (HD). SBMA is caused by the expansion of the coding region for the polyQ tract in the exon 1 of androgen receptor (AR), which represents the N-terminal intrinsically disordered transactivation domain (NTD). AR is the nuclear receptor sensible to testosterone and aggregates of this polyQ-expanded protein are observed in the motor neurons of SBMA patients. The aggregation mechanism of polyQ proteins depends both on the length of the tract and on the chemical properties of the regions flanking it, that can increase or decrease the rate of aggregation depending on their secondary structure. In order to study the structure of the polyQ tract in AR and the mechanism by which this protein forms aggregates, we developed recombinant proteins designed over the N-terminal fragment of cleavage of a caspase (Caspase 3) associated to the onset of the toxicity in SBMA. We also developed a set of biophysical tools for rendering these aggregation-prone proteins monomeric and to monitor their evolution from the monomer level to the fibril. These methodologically challenging endeavor allowed us to study the secondary structure of this intrinsically disordered protein as a monomer and then to monitor what regions are important in its oligomerization and aggregation. Bulk biophysical experiments and NMR indicated that the polyQ tract of AR is in α-helical conformation, unlike other polyQ tracts described in literature, and we demonstrated that this conformation is caused by the nucleating effect of an N-terminal flanking sequence of four Leu residues (54LLLL58). We also showed that the helical conformation of this tract prevents the polyQ to acquire the ß-sheet conformation and to progress as a fibril, as a deletion mutant of the 54LLLL58 motif aggregates and forms fibrils faster than the wild type. By measuring the aggregation rates of three different AR recombinant proteins with progressively higher polyQ length (4Q, 25Q and 51Q) emerged that the polyQ is not the only region responsible for oligomerization and we identified by NMR that a second region, N- terminal and far apart from the polyQ is responsible of the early oligomerization. By analysis of the chemical shifts in different NMR experiments we obtained that this region (23FQNLF27) however not entirely helical, is prone to interact and acquire secondary structure. Furthermore, this sequence is known to bind to the ligand binding domain (LBD) of AR in an interaction critical for its dimerization and subsequent translocation into the nucleus, which is called N/C interaction. The crystal structure of this complex shows 23FQNLF27 in α-helical conformation when bound to LBD. We then investigated what amino-acids were important in the interaction stabilizing the intereaction of 23FQNLF27. By mutational analysis and measurements of aggregation rates we demonstrated that the helicity of this region is important for the aggregation and mutations that increase the helicity also an increase the aggregation propensity of the protein. We also identified that the residues responsible for the contact are the Gln in position 2, 28 and 36 which form a ‘spine’ of polar residues in register along the α-helix. This polar side of the helix is not the one in contact with LBD during the N/C interaction and it is possible that the two events occur in parallel. In the complex, we characterized the early oligomerization of AR in the aggregation process associated to SBMA with the perspective to provide valuable information for the development of drugs for this diseases that has currently no treatment.
Les malalties neurodegeneratives són una de les malediccions de la civilització moderna i es troben estretament lligades a l’augment de l’esperança de vida de la població mundial. La majoria d’aquestes malalties estan associades a la deposició de material proteic, altrament conegut com a fibres amiloides, a les neurones i el cervell en general. Les fibres amiloides són conjunts supramoleculars lineals, composats per proteïnes disposades en fulla beta, que mostren una alta rigidesa i estabilitat termodinàmica. Exemples famosos de proteïnes amiloides són la beta amiloide (Aβ), associada a la malaltia d’Alzheimer, i l’α-­‐sinucleïna i la proteïna tau, més estretament lligades a la malaltia de Parkinson. Una altra família de desordres neurodegeneratius associats a la deposició de proteïnes és la de les malalties poliglutamines (poliQ). Aquesta família està formada per nou patologies, entre les que es troben sis atàxies espinocerebrals diferents (de les sigles en anglès, SCA 1, 2, 3, 6, 7, 17), la atròfia dentatorubral-­‐pallidoluysian (de les sigles en anglès, DRPLA) i la atròfia muscular espinal bulbar (de les sigles en anglès, SBMA), històricament la primera en ser descrita. Totes elles són hereditàries, dominants i es manifesten en edat avançada. D’altra banda, totes elles estan associades a l’adquisició de neurotoxicitat degut a l’agregació de la proteïna causant de la malaltia, que s’acumula progressivament a les neurones amb el temps. La mutació responsable de la malaltia és una expansió genètica a la regió polimòrfica de l’ADN que és comuna a totes le proteïnes associades en aquests enfermetats. Aquesta regió polimòrfica és un conjunt de repeticions CAG que codifiquen l’aminoàcid glutamina a nivell d’expressió de proteïna, és per això que es coneix com a tram de poliglutamines. Aquest tram pot tenir diverses longituds, però l’efecte tòxic només té lloc quan es supera un determinat límit d’allargada. Aquest límit fluctua entre 30 i 40 repeticions i varia de malaltia a malaltia, però en tots els casos el número de repeticions influencia la severitat i l’edat en la que s’inicia la malaltia. La raó que explica aquesta inestabilitat genètica resulta de la propensitat de les seqüències d’ADN altament repetitives (com ara els hairpins) que en determina el slippage de la cadena principal durant la replicació de l’ADN. Les expansions més llargues són causades per la reiteració d’aquesta petita mutació i s’ha observat una reducció progressiva de l’estabilitat genètica amb l’increment del número de repeticions, que en última instància determina un avançament temporal i empitjorament dels símptomes. Considerant l’estreta relació entre la presència d’agregats en els teixits dels pacients malalts i l’estadiatge de la malaltia, és fonamental entendre les propietats biofísiques dels trams de poliQ, com aquestes seqüències determinen l’agregació de la proteïna i el tipus d’estructura que presenten els agregats.
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Theodosiou, Aspasia. "Identification of neuronally-expressed genes involved in growth regulation." Thesis, University of Oxford, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.360570.

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Förthmann, Benjamin [Verfasser]. "The molecular pathology of the neurodegenerative disease Spinal Muscular Atrophy – role of nuclear complexes and nuclear body regulation / Benjamin Förthmann." Hannover : Bibliothek der Tierärztlichen Hochschule Hannover, 2013. http://d-nb.info/1046707914/34.

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Tadesse, Helina. "Identification and Characterization of an Arginine-methylated Survival of Motor Neuron (SMN) Interactor in Spinal Muscular Atrophy (SMA)." Thèse, Université d'Ottawa / University of Ottawa, 2012. http://hdl.handle.net/10393/23588.

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Spinal Muscular Atrophy (SMA) is a neuronal degenerative disease caused by the mutation or loss of the Survival Motor Neuron (SMN) gene. The cause for the specific motor neuron susceptibility in SMA has not been identified. The high axonal transport/localization demand on motor neurons may be one potentially disrupted function, more specific to these cells. We therefore used a large-scale immunoprecipitation (IP) experiment, to identify potential interactors of SMN involved in neuronal transport and localization of mRNA targets. We identified KH-type splicing regulatory protein (KSRP), a multifunctional RNA-binding protein that has been implicated in transcriptional regulation, neuro-specific alternative splicing, and mRNA decay. KSRP is closely related to chick zipcode-binding protein 2 and rat MARTA1, proteins involved in neuronal transport/localization of beta-actin and microtubule-associated protein 2 mRNAs, respectively. We demonstrated that KSRP is arginine methylated, a novel SMN interactor (specifically with the SMN Tudor domain; and not with SMA causing mutants). We also found this protein to be misregulated in the absence of SMN, resulting in increased mRNA stability of KSRP mRNA target, p21cip/waf1. A role for SMN as an axonal chaperone of methylated RBPs could thus be key in SMA pathophysiology.
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Nowak, Deborah J. "Spinal muscular atrophy /." Online version of thesis, 1995. http://hdl.handle.net/1850/12227.

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Owen, Nicholas. "Molecular genetics of spinal muscular atrophy." Thesis, University of Oxford, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.342635.

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Mohaghegh, Payam. "Molecular basis of spinal muscular atrophy." Thesis, University of Oxford, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.325835.

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Daniels, Rachael J. "Molecular analysis of spinal muscular atrophy." Thesis, University of Oxford, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.259878.

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Murray, Lyndsay M. "Synaptic vulnerability in spinal muscular atrophy." Thesis, University of Edinburgh, 2010. http://hdl.handle.net/1842/4419.

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Mounting evidence suggests that synaptic connections are early pathological targets in many neurodegenerative diseases, including motor neuron disease. A better understanding of synaptic pathology is therefore likely to be critical in order to develop effective therapeutic strategies. Spinal muscular atrophy (SMA) is a common autosomal recessive childhood form of motor neuron disease. Previous studies have highlighted nerve- and muscle-specific events in SMA, including atrophy of muscle fibres and postsynaptic motor endplates, loss of lower motor neuron cell bodies and denervation of neuromuscular junctions caused by loss of pre-synaptic inputs. Here I have undertaken a detailed morphological investigation of neuromuscular synaptic pathology in the Smn-/- ;SMN2 and Smn-/-;SMN2;Δ7 mouse models of SMA. Results imply that synaptic degeneration is an early and significant event in SMA, with progressive denervation and neurofilament accumulation being present at early symptomatic time points. I have identified selectively vulnerable motor units, which appear to conform to a distinct developmental subtype compared to more stable motor units. I have also identified significant postsynaptic atrophy which does no correlate with pre-synaptic denervation, suggesting that there is a requirement for Smn in both muscle and nerve and pathological events can occur in both tissues independently. Rigorous investigation of lower motor neuron development, connectivity and gene expression at pre-symptomatic time points revealed developmental abnormalities do not underlie neuromuscular vulnerability in SMA. Equivalent gene expression analysis at end-stage time points has implicated growth factor signalling and extracellular matrix integrity in SMA pathology. Using an alternative model of early onset neurodegeneration, I provide evidence that the processes regulating morphologically distinct types of synaptic degeneration are also mechanistically distinct. In summary, in this work I highlight the importance and incidence of synaptic pathology in mouse models of spinal muscular atrophy and provide mechanistic insight into the processes regulating neurodegeneration.
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Toaz, Erin. "Spinal muscular atrophy in drosophila and mouse." Connect to resource, 2008. http://hdl.handle.net/1811/32204.

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Books on the topic "Spinal muscular atrophy; Neurodegenerative"

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Parker, James N., and Philip M. Parker. The official patient's sourcebook on spinal muscular atrophy. Edited by Icon Group International Inc. San Diego, Calif: Icon Health Publications, 2002.

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Pons, José Antonio Fortuny. Diálogos con Axel: Cuando seamos inmortales. Barcelona: Ediciones de la Tempestad, 2003.

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Bell, Howard. More than a conqueror: Winning in the face of adversity. Shippensburg, PA: Treasure House, 1997.

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Parker, James N., and Philip M. Parker. Spinal and bulbar muscular atrophy: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA: ICON Health Publications, 2007.

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Parker, James N., and Philip M. Parker. Spinal muscular atrophy: A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA: ICON Health Publications, 2007.

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Censier, Delphine. Elle, moi, une autre. Lausanne: Favre, 2005.

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Zuo lun yi ye yao lü xing: Lü xing, hui hua, chuang zuo, zhu meng, sheng huo. Taibei Shi: Zhang lao shi wen hua shi yeh gu fen yu xian gong si, 2012.

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Panzarino, Connie. The me in the mirror. Seattle, WA: Seal Press, 1994.

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writer, Li Cuiqing, ed. Jian dong ren sheng you zen yang?: Wo Hu Tingshuo, zi ji de ren sheng zi ji kang! Taibei Shi: Tian xia za zhi gu fen you xian gong si, 2015.

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Panzarino, Connie. The me in the mirror. Seattle, WA: Seal Press, 1994.

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Book chapters on the topic "Spinal muscular atrophy; Neurodegenerative"

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Wooley, Joseph R., Melissa E. Crowder, Noah J. Pyles, and Charlotte J. Sumner. "Spinal Muscular Atrophy." In Neurodegeneration, 179–201. Oxford, UK: John Wiley & Sons, Ltd, 2017. http://dx.doi.org/10.1002/9781118661895.ch16.

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Sobue, Gen, Hiroaki Adachi, and Masahisa Katsuno. "Spinal and Bulbar Muscular Atrophy." In Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders, 307–12. Oxford, UK: Wiley-Blackwell, 2011. http://dx.doi.org/10.1002/9781444341256.ch30.

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Bosch, Erich Peter. "Spinal and Bulbar Muscular Atrophy (Kennedy Disease)." In Neurodegeneration, 202–10. Oxford, UK: John Wiley & Sons, Ltd, 2017. http://dx.doi.org/10.1002/9781118661895.ch17.

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Strong, Michael J., Tibor Hortobágyi, Koichi Okamoto, and Shinsuke Kato. "Amyotrophic Lateral Sclerosis, Primary Lateral Sclerosis and Spinal Muscular Atrophy." In Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders, 418–33. Oxford, UK: Wiley-Blackwell, 2011. http://dx.doi.org/10.1002/9781444341256.ch44.

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Tsujimoto, Y. "Role of anti-apoptotic Bcl-2 protein in spinal muscular atrophy." In Advances in Research on Neurodegeneration, 41–52. Vienna: Springer Vienna, 2000. http://dx.doi.org/10.1007/978-3-7091-6284-2_4.

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Gilbert, Patricia. "Spinal muscular atrophy." In The A-Z Reference Book of Syndromes and Inherited Disorders, 286–89. Boston, MA: Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-6918-7_76.

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Sachs, Adam. "Spinal Muscular Atrophy." In Consults in Obstetric Anesthesiology, 551–54. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-59680-8_147.

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Montes, Jacqueline, and Petra Kaufmann. "Spinal Muscular Atrophy." In Neuromuscular Disorders, 229–35. Oxford, UK: Wiley-Blackwell, 2011. http://dx.doi.org/10.1002/9781119973331.ch30.

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Rudnik-Schöneborn, Sabine, and Klaus Zerres. "Spinal muscular atrophy." In International Neurology, 456–59. Chichester, UK: John Wiley & Sons, Ltd, 2016. http://dx.doi.org/10.1002/9781118777329.ch108.

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Harding, Brian N. "Spinal Muscular Atrophy." In Developmental Neuropathology, 469–75. Oxford, UK: John Wiley & Sons, Ltd, 2018. http://dx.doi.org/10.1002/9781119013112.ch39.

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Conference papers on the topic "Spinal muscular atrophy; Neurodegenerative"

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"Characteristic of the spinal muscular atrophy cell model." In SYSTEMS BIOLOGY AND BIOINFORMATICS. Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 2019. http://dx.doi.org/10.18699/sbb-2019-32.

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Glass, D. S., J. D. Ross, J. D. Probe, and J. D. Cook. "System for quantitative assessment of spinal muscular atrophy." In Proceedings of the Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE, 1988. http://dx.doi.org/10.1109/iembs.1988.94773.

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Becker, Lena-Luise, Anna Tietze, Claudia Weiß, Viktoria Martiny, and Angela M. Kaindl. "Increased Intracranial Pressure in Patients with Spinal Muscular Atrophy." In Abstracts of the 45th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1698257.

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Ibrahim, Khalid. "Spinal Muscular Atrophy Melody in Qatar: Types and Treatment." In Congenital Dystrophies - Neuromuscular Disorders Precision Medicine: Genomics to Care and Cure. Hamad bin Khalifa University Press (HBKU Press), 2020. http://dx.doi.org/10.5339/qproc.2020.nmd.14.

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Chacko, Archana, Sean Deegan, Leanne Gauld, and Peter Sly. "Nusinersen stabilises respiratory function in paediatric spinal muscular atrophy." In ERS International Congress 2020 abstracts. European Respiratory Society, 2020. http://dx.doi.org/10.1183/13993003.congress-2020.1234.

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Barlow, Courtenay B., Carina J. Emery, Rocky G. Gogliotti, Herminio Cardona, and Christine J. DiDonato. "Protein Profiling In Mouse Models Of Spinal Muscular Atrophy." In American Thoracic Society 2012 International Conference, May 18-23, 2012 • San Francisco, California. American Thoracic Society, 2012. http://dx.doi.org/10.1164/ajrccm-conference.2012.185.1_meetingabstracts.a4910.

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Umat, Gazlia, and Azmin Sham Rambely. "Optimization of Spinal Muscular Atrophy subject's muscle activity during gait." In PROCEEDINGS OF THE 3RD INTERNATIONAL CONFERENCE ON MATHEMATICAL SCIENCES. AIP Publishing LLC, 2014. http://dx.doi.org/10.1063/1.4882518.

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Chacko, A., P. D. Sly, and L. Gauld. "Characteristics of Sleep Disordered Breathing in Pediatric Spinal Muscular Atrophy." In American Thoracic Society 2019 International Conference, May 17-22, 2019 - Dallas, TX. American Thoracic Society, 2019. http://dx.doi.org/10.1164/ajrccm-conference.2019.199.1_meetingabstracts.a3581.

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Pechmann, Astrid, Günther Bernert, Ulrike Schara, Inge Schwersenz, Maggie C. Walter, Hanns Lochmüller, and Janbernd Kirschner. "SMArtCARE - Real-world-data Collection of Patients with Spinal Muscular Atrophy." In Abstracts of the 45th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1698258.

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Qidwai, Uvais, and Aejaz Zahid. "Fuzzy-EMG-based Assistive interface for children with Spinal-Muscular-Atrophy." In 2014 IEEE Conference on Biomedical Engineering and Sciences (IECBES). IEEE, 2014. http://dx.doi.org/10.1109/iecbes.2014.7047500.

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Reports on the topic "Spinal muscular atrophy; Neurodegenerative"

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De Vivo, Darryl C. Columbia SMA Project: A Randomized, Control Trial of the Effects of Exercise on Motor Function and Strength in Patients with Spinal Muscular Atrophy (SMA). Fort Belvoir, VA: Defense Technical Information Center, June 2012. http://dx.doi.org/10.21236/ada563380.

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