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Select item 107232491.

Differential impact on motor unit characteristics across severities of adult spinal muscular atrophy

Kristina Marie Kelly, Jordan Mizell, Ladan Bigdeli, Samuel Paul, Marco Antonio Tellez, Amy Bartlett, Sarah Heintzman, Jerold Everett Reynolds, Gary Brent Sterling, Kiran Francis Rajneesh, Stephen James Kolb, Bakri Elsheikh, William David Arnold

Ann Clin Transl Neurol. 2023 Dec; 10(12): 2208–2222. Published online 2023 Sep 21. doi: 10.1002/acn3.51906

PMCID:: PMC10723249

Article PDF–5.1M

Select item 106301762.

Evaluating Perceived Fatigue within an Adult Spinal Muscular Atrophy Population

Lisa Belter, Ilse Peterson, Jill Jarecki

Neurol Ther. 2023 Dec; 12(6): 2161–2175. Published online 2023 Oct 19. doi: 10.1007/s40120-023-00552-y

PMCID:: PMC10630176

Article PDF–298K

Select item 100414263.

Patient Reported Outcome Measures in Adult Spinal Muscular Atrophy: A Scoping Review and Graphical Visualization of the Evidence

Jeremy Slayter, Lauren Casey, Colleen O’Connell

J Neuromuscul Dis. 2023; 10(2): 239–250. Prepublished online 2022 Dec 13. Published online 2023 Mar 7. doi: 10.3233/JND-221595

PMCID:: PMC10041426

Article PDF–804K

Select item 94065264.

Identification of a cytokine profile in serum and cerebrospinal fluid of pediatric and adult spinal muscular atrophy patients and its modulation upon nusinersen treatment

Silvia Bonanno, Paola Cavalcante, Erika Salvi, Eleonora Giagnorio, Claudia Malacarne, Marco Cattaneo, Francesca Andreetta, Anna Venerando, Viviana Pensato, Cinzia Gellera, Riccardo Zanin, Maria Teresa Arnoldi, Claudia Dosi, Renato Mantegazza, Riccardo Masson, Lorenzo Maggi, Stefania Marcuzzo

Front Cell Neurosci. 2022; 16: 982760. Published online 2022 Aug 11. doi: 10.3389/fncel.2022.982760

PMCID:: PMC9406526

Article PDF–3.9M

Select item 94004415.

Cone-beam Computed Tomography Guided Nusinersen Administrations in Adult Spinal Muscular Atrophy Patients with Challenging Access: A Single- Center Experience

Assoc. Prof. Vladka Salapura, Ziga Snoj, Lea Leonardis, Blaz Koritnik, Viktorija Kostadinova

Radiol Oncol. 2022 Sep; 56(3): 319–325. Published online 2022 Aug 14. doi: 10.2478/raon-2022-0033

PMCID:: PMC9400441

Article PDF–681K

Select item 89685326.

Late adult-onset spinal muscular atrophy with lower extremity predominance (SMALED)

Iqra Aziz, Mark Davis, Christina Liang

BMJ Case Rep. 2022; 15(3): e248297. Published online 2022 Mar 29. doi: 10.1136/bcr-2021-248297

PMCID:: PMC8968532

Article PDF–654K

Select item 88187607.

Assessment of Health-Related Quality of Life in Adult Spinal Muscular Atrophy Under Nusinersen Treatment—A Pilot Study

Andreas Thimm, Svenja Brakemeier, Kathrin Kizina, Juan Munoz Rosales, Benjamin Stolte, Andreas Totzeck, Cornelius Deuschl, Christoph Kleinschnitz, Tim Hagenacker

Front Neurol. 2021; 12: 812063. Published online 2022 Jan 24. doi: 10.3389/fneur.2021.812063

PMCID:: PMC8818760

Article PDF–1.6M

Select item 88179158.

Clinical Outcome of Adult Spinal Muscular Atrophy Patients Treated with Nusinersen: A Case Series Review

Keng Lam, Abel Wu

Perm J. 2021; 25: 20.163. Published online 2020 Dec 9. doi: 10.7812/TPP/20.163

PMCID:: PMC8817915

Article PDF–542K

Select item 88076939.

A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4)

G. Perez-Siles, M. Ellis, A. Ashe, B. Grosz, S. Vucic, M. C. Kiernan, K. A. Morris, S. W. Reddel, M. L. Kennerson

Front Genet. 2021; 12: 801253. Published online 2022 Jan 19. doi: 10.3389/fgene.2021.801253

PMCID:: PMC8807693

Article PDF–4.9M

Select item 838550010.

A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method

Jeremy Slayter, Victoria Hodgkinson, Josh Lounsberry, Bernard Brais, Kristine Chapman, Angela Genge, Aaron Izenberg, Wendy Johnston, Hanns Lochmüller, Erin O’Ferrall, Gerald Pfeffer, Stephanie Plamondon, Xavier Rodrigue, Kerri Schellenberg, Christen Shoesmith, Christine Stables, Monique Taillon, Jodi Warman-Chardon, Lawrence Korngut, Colleen O’Connell

J Neuromuscul Dis. 2021; 8(4): 579–588. Prepublished online 2021 Apr 14. Published online 2021 Jul 30. doi: 10.3233/JND-200617

PMCID:: PMC8385500

Article PDF–843K

Select item 825170611.

Is cerebrospinal fluid amyloid‐β42 a promising biomarker of response to nusinersen in adult spinal muscular atrophy patients?

Alessandro Introna, Giammarco Milella, Eustachio D'Errico, Angela Fraddosio, Gaspare Scaglione, Maria Ucci, Maddalena Ruggieri, Isabella Laura Simone

Muscle Nerve. 2021 Jun; 63(6): 905–909. Published online 2021 Mar 13. doi: 10.1002/mus.27212

PMCID:: PMC8251706

Article PDF–909K

Select item 822096212.

Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene

Angela Sung, Paolo Moretti, Aziz Shaibani

Neurol Genet. 2021 Aug; 7(4): e599. Published online 2021 Jun 22. doi: 10.1212/NXG.0000000000000599

PMCID:: PMC8220962

Article PDF–224K

Select item 810842013.

Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment

Maren Freigang, Claudia D. Wurster, Tim Hagenacker, Benjamin Stolte, Markus Weiler, Christoph Kamm, Olivia Schreiber‐Katz, Alma Osmanovic, Susanne Petri, Alexander Kowski, Thomas Meyer, Jan C. Koch, Isabell Cordts, Marcus Deschauer, Paul Lingor, Elisa Aust, Daniel Petzold, Albert C. Ludolph, Björn Falkenburger, Andreas Hermann, René Günther

Ann Clin Transl Neurol. 2021 May; 8(5): 1049–1063. Published online 2021 Mar 31. doi: 10.1002/acn3.51340

PMCID:: PMC8108420

Article PDF–393K

Select item 778926714.

Executive function is inversely correlated with physical function: the cognitive profile of adult Spinal Muscular Atrophy (SMA)

Lucas Mix, Olivia Schreiber-Katz, Claudia D. Wurster, Zeljko Uzelac, Sophia Platen, Christina Gipperich, Gresa Ranxha, Gary Wieselmann, Alma Osmanovic, Albert C. Ludolph, Susanne Petri, Dorothée Lulé

Orphanet J Rare Dis. 2021; 16: 10. Published online 2021 Jan 6. doi: 10.1186/s13023-020-01661-9

PMCID:: PMC7789267

Article PDF–1.5M

Select item 735917415.

Treatment expectations and patient-reported outcomes of nusinersen therapy in adult spinal muscular atrophy

Alma Osmanovic, Gresa Ranxha, Mareike Kumpe, Lars Müschen, Camilla Binz, Flavia Wiehler, Lejla Paracka, Sonja Körner, Katja Kollewe, Susanne Petri, Olivia Schreiber-Katz

J Neurol. 2020; 267(8): 2398–2407. Published online 2020 May 2. doi: 10.1007/s00415-020-09847-8

PMCID:: PMC7359174

Article PDF–1.0M

Select item 735912516.

Whole‐blood dysregulation of actin‐cytoskeleton pathway in adult spinal muscular atrophy patients

Jennifer J. Siranosian, Flavia C. Nery, Christiano R. R. Alves, Benjamin A. Siranosian, Nicholas J. Lyons, Eric J. Eichelberger, Reid Garner, Salomé Da Silva Duarte Lepez, Alec J. Johnstone, Aravind Subramanian, Kathryn J. Swoboda

Ann Clin Transl Neurol. 2020 Jul; 7(7): 1158–1165. Published online 2020 Jun 17. doi: 10.1002/acn3.51092

PMCID:: PMC7359125

Article PDF–1.1M

Select item 697475517.

Intrathecal nusinersen administration in adult spinal muscular atrophy patients with complex spinal anatomy

Isabell Cordts, Paul Lingor, Benjamin Friedrich, Verena Pernpeintner, Claus Zimmer, Marcus Deschauer, Christian Maegerlein

Ther Adv Neurol Disord. 2020; 13: 1756286419887616. Published online 2020 Jan 20. doi: 10.1177/1756286419887616

PMCID:: PMC6974755

Article PDF–719K

Select item 641347218.

The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study

Giorgia Querin, Mohamed-Mounir El Mendili, Timothée Lenglet, Anthony Behin, Tanya Stojkovic, François Salachas, David Devos, Nadine Le Forestier, Maria del Mar Amador, Rabab Debs, Lucette Lacomblez, Vincent Meninger, Gaëlle Bruneteau, Julien Cohen-Adad, Stéphane Lehéricy, Pascal Laforêt, Sophie Blancho, Habib Benali, Martin Catala, Menghan Li, Véronique Marchand-Pauvert, Jean-Yves Hogrel, Peter Bede, Pierre-François Pradat

Neuroimage Clin. 2019; 21: 101618. Published online 2018 Nov 28. doi: 10.1016/j.nicl.2018.101618

PMCID:: PMC6413472

Article PDF–1.7M

Select item 335009719.

Using General Anesthesia plus Muscle Relaxant in a Patient with Spinal Muscular Atrophy Type IV: A Case Report

Xiu-Fen Liu, Dong-Xin Wang, Daqing Ma

Case Rep Anesthesiol. 2011; 2011: 743587. Published online 2011 Oct 19. doi: 10.1155/2011/743587

PMCID:: PMC3350097

Article PDF–441K

Select item 47399520.

An evaluation of the Auto Analyzer SMA-4

T. R. J. Lappin, A. Lamont, M. G. Nelson

J Clin Pathol. 1969 Jan; 22(1): 11–18. doi: 10.1136/jcp.22.1.11

PMCID:: PMC473995

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