Spinal Muscular Atrophy Articles and Resources

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Compound muscle action potential and motor function in children with spinal muscular atrophy
Aga Lewelt MD, Kristin J. Krosschell PT, Charles Scott PhD, Ai Sakonju MD, John T. Kissel MD, Thomas O. Crawford MD, Gyula Acsadi MD, PhD, Guy D’anjou MD, Bakri Elsheikh MD, Sandra P. Reyna MD, Mary K. Schroth MD, Jo Anne Maczulski OT, Gregory J. Stoddard MPH, Elie Elovic MD, Kathryn J. Swoboda MD (Published: August 2010)

SMA CARNI-VAL Trial Part I: Double-Blind, Randomized, Placebo-Controlled Trial of L-Carnitine and Valproic Acid in Spinal Muscular Atrophy
Kathryn J. Swoboda, Charles B. Scott, Thomas O. Crawford, Louise R. Simard, Sandra P. Reyna, Kristin J. Krosschell, Gyula Acsadi, Bakri Elsheik, Mary K. Schroth, Guy D’Anjou, Bernard LaSalle, Thomas W. Prior, Susan L. Sorenson, Jo Anne Maczulski, Mark B. Bromberg, Gary M. Chan, John T. Kissel, for the Project Cure Spinal Muscular Atrophy Investigators Network (Published: August 2010)

Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice
Christopher R. Heier, Rosalba Satta, Cathleen Lutz and Christine J. DiDonato (Published: August 2010)

Cardiac defects contribute to the pathology of spinal muscular atrophy models
Monir Shababi, Javad Habibi, Hsiao T. Yang, Spencer M. Vale, Will A. Sewell and Christian L. Lorson (Published: August 2010)

Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy.
Douglas M. Sproule, Jacqueline Montes, Sally Dunaway, Megan Montgomery, Vanessa Battista, Dorcas Koenigsberger, Bill Martens, Wei Shen, Mark Punyanitya, Maryjane Benton, Hailly Butler, Jayson Caracciolo, Eugenio Mercuri, Richard Finkel, Basil Darras, Darryl C. De Vivo and Petra Kaufmann (Published: July 2010)

Early heart failure in the Δ7SMN model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery
Adam K. Bevan, Kirk R. Hutchinson, Kevin D. Foust, Lyndsey Braun, Vicki L. McGovern, Leah Schmelzer, Jennifer G. Ward, Jeffrey C. Petruska, Pamela A. Lucchesi, Arthur H. M. Burghes and Brian K. Kaspar (Published: July 2010)

Alpha-Synuclein Loss in Spinal Muscular Atrophy
Gyula Acsadi, Xingli Li, Kelley J. Murphy, Kathryn J. Swoboda, and Graham C. Parker (Published: July 2010)

Therapy development in spinal muscular atrophy
Michael Sendtner (Published: June 2010)

Spinal muscular atrophy: mechanisms and therapeutic strategies
Christian L. Lorson, Hansjorg Rindt and Monir Shababi (Human Molecular Genetics, 2010. Published: June 2010) Posted by permission of Oxford University Press.

Systemic Delivery of scAAV9 Expressing SMN Prolongs Survival in a Model of Spinal Muscular Atrophy
Chiara F. Valori, Ke Ning, Matthew Wyles, Richard J. Mead, Andrew J. Grierson, Pamela J. Shaw and Mimoun Azzouz (Published: June 2010)

Therapeutic developments in spinal muscular atrophy

Douglas M. Sproule and Petra Kaufmann (Published: April 2010)

Genetic therapy for spinal muscular atrophy
Alex MacKenzie (Published: March 2010)

Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy
J. Montes, PT, MA, M. P. McDermott, PhD, W. B. Martens, S. Dunaway, PT, DPT, A. M. Glanzman, PT, DPT, S. Riley, PT, DPT, J. Quigley, PT, M. J. Montgomery, BS, D. Sproule, MD, R. Tawil, MD, W. K. Chung, MD, PhD, B. T. Darras, MD, D. C. De Vivo, MD, P. Kaufmann, MD, R. S. Finkel, MD For the Muscle Study Group and the Pediatric Neuromuscular Clinical Research Network (Published: March 2010)

A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity
Sungchan Cho and Gideon Dreyfuss (Published: March 2010)

CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy.
Marco A. Passini, Jie Bu, Eric M. Roskelley, Amy M. Richards, S. Pablo Sardi, Catherine R. O’Riordan, Katherine W. Klinger, Lamya S. Shihabuddin, and Seng H. Cheng (Published: March 2010)

Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
Kevin D Foust, Xueyong Wang, Vicki L McGovern, Lyndsey Braun, Adam K Bevan, Amanda M Haidet, Thanh T Le, Pablo R Morales, Mark M Rich, Arthur H M Burghes, & Brian K Kaspar (Published: February 2010)

Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model
Melissa Bowerman, Ariane Beauvais, Carrie L. Anderson, and Rashmi Kothary (Published: January 2010)

Perspectives and diagnostic considerations in spinal muscular atrophy
Thomas W. Prior, PhD (Published: January 2010)

Trans-Splicing-Mediated Improvement in a Severe Mouse Model of Spinal Muscular Atrophy
Tristan H. Coady and Christian L. Lorson (Published: January 2010)

Congenital heart disease is a feature of severe infantile spinal muscular atrophy
S Rudnik-Schoneborn, R Heller, C Berg, C Betzler, T Grimm, T Eggermann, K Eggermann, R Wirth, B Wirth, K Zerres (Published: December 2009)

Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice
Stefania Corti, Monica Nizzardo, Martina Nardini, Chiara Donadoni, Sabrina Salani, Dario Ronchi, Chiara Simone, Marianna Falcone, Dimitra Papadimitriou, Federica Locatelli, Nicoletta Mezzina, Francesca Gianni, Nereo Bresolin and Giacomo P. Comi (Published: December 2009)

Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy
Lyndsay M. Murray, Sheena Lee, Dirk Baumer, Simon H. Parson, Kevin Talbot and Thomas H. Gillingwater (Published: November 2009)

Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy
Matthew E.R. Butchbach, Jasbir Singh, Margret Porsteinsdottir, Luciano Saieva, Elzbieta Slominski, John Thurmond, Thorkell Andresson, Jun Zhang, Jonathan D. Edwards, Louise R. Simard, Livio Pellizzoni, Jill Jarecki, Arthur H.M. Burghes and Mark E. Gurney (Published: November 2009)

Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy
Matthew E.R. Butchbach, Ferrill F. Rose Jr., Sarah Rhoades, John Marstonb, John T. McCrone, Rachel Sinnott, and Christian L. Lorson (Published: November 2009)

Tetracyclines That Promote SMN2 Exon 7 Splicing as Therapeutics for Spinal Muscular Atrophy
Michelle L. Hastings, Joel Berniac, Ying Hsiu Liu, Paul Abato, Francine M. Jodelka, Lea Barthel, Sujatha Kumar, Caroline Dudley, Mark Nelson, Kelley Larson, Jason Edmonds,
Todd Bowser, Michael Draper, Paul Higgins, and Adrian R. Krainer (Published: November 2009)

Implementation of “The Consensus Statement for the Standard of Care in Spinal Muscular Atrophy” when applied to infants with severe type 1 SMA in the UK
Helen Roper, Ros Quinlivan (Published: October 2009)

A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

Thomas W. Prior, Adrian R. Krainer, Yimin Hua, Kathryn J. Swoboda, Pamela C. Snyder, Scott J. Bridgeman, Arthur H.M. Burghes, and John T. Kissel (Published: September 2009)

Dysphagia in spinal muscular atrophy type II
L. van den Engel-Hoek, MSc, C. E. Erasmus, MD, H. W. van Bruggen, MSc, B.J.M. de Swart, PhD, L. T.L. Sie, MD, PhD, M. H. Steenks, DDS, PhD and I. J.M. de Groot, MD, PhD (Published: August 2009)

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
Arthur H. M. Burghes & Christine E. Beattie (Published: July 2009)

Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin is p53-independent
Chia-Yen Wu, Ilsa Gomez-Curet, Vicky L Funanage, Mena Scavina, and Wenlan Wang (Published: May 2009)

Phase II Open Label Study of Valproic Acid in Spinal Muscular Atrophy
Kathryn J. Swoboda, Charles B. Scott, Sandra P. Reyna, Thomas W. Prior, Bernard LaSalle, Susan L. Sorenson, Janine Wood, Gyula Acsadi, Thomas O. Crawford, John T. Kissel, Kristin J. Krosschell, Guy D’Anjou, Mark B. Bromberg, Mary K. Schroth, Gary M. Chan, Bakri Elsheikh, Louise R. Simard (Published: May 2009)

Special Considerations in the Respiratory Management of Spinal Muscular Atrophy
Mary K. Schroth, MD (Published: May 2009)

Putting the ‘HAT’ back on survival signalling: the promises and challenges of HDAC inhibition in the treatment of neurological conditions
Sama F Sleiman, Manuela Basso, Lata Mahishi, Alan P Kozikowski, Mary E Donohoe, Brett Langley, and Rajiv R Ratan (Published: May 2009)

Modified Hammersmith Functional Motor Scale For Children With Spinal Muscular Atrophy MHFMS-SMA
Produced by Project Cure (Posted: January 2009)

Delivery of recombinant follistatin lessens disease severity in a mouse model of Spinal Muscular Atrophy
Ferrill F. Rose, Jr, Virginia B. Mattis, Hansjorg Rindt, and Christian L. Lorson (Published: December 2008)

Induced pluripotent stem cells from a spinal muscular atrophy patient
Allison D. Ebert, Junying Yu, Ferrill F. Rose, Jr, Virginia B. Mattis, Christian L. Lorson, James A. Thomson & Clive N. Svendsen (Published: December 2008)

A negatively acting bifunctional RNA increases survival motor neuron both in vitro and in vivo
A Dickson, E Osman, CL Lorson (Published: November 2008)

Linking SMN to SMA: An assay for the rescuer

Neurology. 2008; 71: 1752-1753
Editorial by Carsten G. Bonnemann, MD and Richard S. Finkel, MD (Published: November 2008)

Development of a Single Vector System that Enhances Trans-Splicing of SMN2 Transcripts
Tristan H. Coady, Travis D. Baughan, Monir Shababi, Marco A. Passini, Christian L. Lorson (Published: October 2008)

Understanding the experience of living with spinal muscular atrophy: a qualitative description
Connie Lamb and Ann Peden (Published: August 2008)

Identification and Characterization of the Porcine (Sus scrofa) Survival Motor Neuron (SMN1) Gene: An Animal Model for Therapeutic Studies
Monique A. Lorson, Lee D. Spate, Randall S. Prather, and Christian L. Lorson (Published: July 2008)

Multiple therapeutic effects of valproic acid in spinal muscular atrophy model mice
Li-Kai Tsai, Ming-Shiun Tsai, Chen-Hung Ting, and Hung Li (Published: July 2008)

A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy
Nguyen thi Man, PhD, E. Humphrey, PhD, L. T. Lam, PhD, H. R. Fuller, PhD, T. A. Lynch, MPhil, C. A. Sewry, PhD, P. R. Goodwin, BSc, A. E. MacKenzie, PhD and G. E. Morris, DPhil (Published: July 2008)

A Family Guide to the Consensus Statement for Standard of Care in Spinal Muscular Atrophy
Published by The Patient Advisory Group of the International Coordinating Committee (ICC) for SMA Clinical Trials (Published: April 2008)

Fishing for a Mechanism: Using Zebrafish to Understand Spinal Muscular Atrophy
Christine E. Beattie, Tessa L. Carrel and Michelle L. McWhorter (Published: August 2007)

Consensus Statement for Standard of Care in Spinal Muscular Atrophy
Ching H. Wang, Richard S. Finkel, Enrico S. Bertini, Mary Schroth, Anita Simonds, Brenda Wong, Annie Aloysius, Leslie Morrison, Marion Main, Thomas O. Crawford, Anthony Trela and Participants of the International Conference on SMA Standard of Care (Published: August 2007)

Spinal Muscular Atrophy Diagnostics
Thomas W. Prior (Published: August 2007)

Spinal Muscular Atrophy: Classification, Diagnosis, Management, Pathogenesis, and Future Research Directions
Felina V. Kostova, Virginia C. Williams, Jill Heemskerk, Susan Iannaccone, Christine DiDonato, Kathryn Swoboda and Bernard L. Maria (Published: August 2007)

Matrix of SMN Mutations
From the laboratory of Dr. Alex MacKenzie, Director of the Children’s Hospital of Eastern Ontario Research Institute and professor of Pediatrics and Biochemistry at the University of Ottawa (Posted: Summer 2007)

Laparoscopic Nissen Fundoplication During Gastrostomy Tube Placement and Noninvasive Ventilation May Improve Survival in Type I and Severe Type II Spinal Muscular Atrophy
Nanci Yuan, MD, Ching H. Wang, MD, PhD, Anthony Trela, BS, and Craig T. Albanese, MD (Published: June 2007)

Noninvasive ventilation in children with spinal muscular atrophy types 1 and 2.
A Petrone, M Pavone, MB Testa, F Petreschi, E Bertini, and R Cutrera (Published: March 2007)

Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy.
Amy M. Avila, Barrington G. Burnett, Addis A. Taye, Francesca Gabanella, Melanie A. Knight, Parvana Hartenstein, Ziga Cizman, Nicholas A. Di Prospero, Livio Pellizzoni, Kenneth H. Fischbeck, and Charlotte J. Sumner (Published: March 2007)

An intronic element contributes to splicing repression in spinal muscular atrophy
Tsuyoshi Kashima, Nishta Rao, and James L. Manley (Published: February 2007)

Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA.
L. R. Simard, M-C Bélanger, S. Morissette, M. Wride, T. W. Prior, and K. J. Swoboda (Published: February 2007)

Outcome of noninvasive ventilation in children with neuromuscular disease
H. K. Young, A. Lowe, D. A. Fitzgerald, C. Seton, K. A. Waters, E. Kenny, L. S. Hynan, S. T. Iannaccone, K. N. North, and M. M. Ryan (Published: January 2007)

Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis.
Veronica Setola, Mineko Terao, Denise Locatelli, Stefania Bassanini, Enrico Garattini, and Giorgio Battaglia (Published: January 2007)

Recent Advances in Respiratory Care for Neuromuscular Disease
Anita K. Simonds (Published: December 2006)

Modulating role of RNA structure in alternative splicing of a critical exon in the spinal
muscular atrophy genes

Natalia N. Singh, PhD, Ravindra N. Singh, PhD, and Elliot J. Androphy, MD (Published: December 2006)

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy
E. Mercuri MD, E. Bertini MD, S. Messina MD, A. Solari MD, A. D’Amico MD, C. Angelozzi MD, R. Battini MD, A. Berardinelli MD, P. Boffi MD, C. Bruno MD, C. Cini MD, F. Colitto MD, M. Kinali MD, C. Minetti MD, T. Mongini MD, L. Morandi MD, G. Neri MD, S. Orcesi MD, M. Pane MD, M. Pelliccioni MD, A. Pini MD, F. D. Tiziano MD, M. Villanova MD, G. Vita MD, and C. Brahe MD (Published: November 2006)

Filling the Gaps in Drug Therapy: Spinal muscular atrophies – distinctions and therapeutic progress
Shelley L. Davies, M Angels Moral (Published: August 2006)

Respiratory aids offer hope for neuromuscular disease.
John R. Bach (Published: Spring 2006)

Respiratory Care of SMA And Choices

Mary Schroth, M.D., University of Wisconsin Children’s Hospital

Presentation by Dr. Kenneth Fischbeck of NIH/NINDS on SMN2 Upregulation
As given in the SMA project meeting September 21, 2005

Regular Exercise Prolongs Survival in a Type 2 Spinal Muscular Atrophy Model Mouse.
Clement Grondard, Olivier Biondi, Anne-Sophie Armand, Sylvie Lecolle, Bruno Della Gaspera, Claude Pariset,
Hung Li, Claude-Louis Gallien, Pierre-Paul Vidal, Christophe Chanoine, and Frederic Charbonnier (Published: August 2005)

Challenges and opportunities in clinical trials for spinal muscular atrophy
D. Hirtz, MD, S. Iannaccone, MD, FAAN, J. Heemskerk, PhD, K. Gwinn-Hardy, MD, R. Moxley, III, MD and L. P. Rowland, MD (Published: July 2005)

Letter to the Editor: There Are Other Ways to Manage Spinal Muscular Atrophy Type 1
John R. Bach (Published: April 2005)

A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels
Elizabeth C. Wolstencroft, Virginia Mattis, Anna A. Bajer, Philip J. Young and Christian L. Lorson (Published: March 2005)

Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy
Mimoun Azzouz, Thanh Le, G. Scott Ralph, Lucy Walmsley, Umrao R. Monani, Debbie C.P. Lee, Fraser Wilkes, Kyriacos A. Mitrophanous, Susan M. Kingsman, Arthur H.M. Burghes, and Nicholas D. Mazarakis (Published: December 2004)

Respiratory Capacity Course in Patients With Infantile Spinal Muscular Atrophy
Christine Ioos, MD, Daniele Leclair-Richard, MD, Slah Mrad, MD, Annie Barois, MD, and Brigitte Estournet-Mathiaud, MD (Published: September 2004)

Axonal growth of embryonic stem cell-derived motoneurons in vitro and in motoneuron-injured adult rats
James M. Harper, Chitra Krishnan, Jessica S. Darman, Deepa M. Deshpande, Schonze Peck, Irina Shats, Stephanie Backovic, Jeffrey D. Rothstein, and Douglas A. Kerr (Published: April 2004)

A Phase 1 Trial of Riluzole in Spinal Muscular Atrophy
Barry S. Russman, MD; Susan T. Iannaccone, MD; Frederick J. Samaha, MD (Published: November 2003)

Valproic acid increases SMN levels in spinal muscular atrophy patient cells
Charlotte J. Sumner, MD, Thanh N. Huynh, BS, Jennifer A. Markowitz, BS, J. Stephen Perhac, BA, Brenna Hill, BS, Daniel D. Coovert, PhD, Kristie Schussler, BS, Xiaocun Chen, MS, Jill Jarecki, PhD, Arthur H. M. Burghes, PhD, J. Paul Taylor, MD, PhD, Kenneth H. Fischbeck, MD (Published: October 2003)

Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy
L. Brichta, Y. Hofmann, E. Hahnen, F. A. Siebzehnrubl, H. Raschke, I. Blumcke, I. Y. Eyupoglu, and B. Wirth (Published: October 2003)

Reliability of 4 Outcome Measures in Pediatric Spinal Muscular Atrophy
Susan T. Iannaccone, MD; Linda S. Hynan, PhD; and the American Spinal Muscular Atrophy Randomized Trials (AmSMART) Group (Published: August 2003)

Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle
Sophie Nicole, Benedicte Desforges, Gaelle Millet, Jeanne Lesbordes, Carmen Cifuentes-Diaz, Dora Vertes, My Linh Cao, Fabienne De Backer, Laetitia Languille, Natacha Roblot, Vandana Joshi, Jean-Marie Gillis, and Judith Melki (Published: May 2003)

Outcome Measures for Pediatric Spinal Muscular Atrophy
Susan T. Iannaccone, MD; and the American Spinal Muscular Atrophy Randomized Trials (AmSMART) Group (Published: September 2002)

Minute Virus of Mice Small Nonstructural Protein NS2 Interacts and Colocalizes with the Smn Protein
Philip J. Young, Klaus T. Jensen, Lisa R. Burger, David J. Pintel, and Christian L. Lorson (Published: June 2002)

Deletion of Murine SMN Exon 7 Directed to Skeletal Muscle Leads to Severe Muscular Dystrophy
Carmen Cifuentes-Diaz, Tony Frugier, Francesco D. Tiziano, Emmanuelle Lacene, Natacha Roblot, Vandana Joshi, Marie Helene Moreau, and Judith Melki (Published: March 2001)

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
Umrao R. Monani, Christian L. Lorson, D. William Parsons, Thomas W. Prior, Elliot J. Androphy, Arthur H. M. Burghes, John D. McPherson (Published: July 1999)

Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT)
Umrao R. Monani, John D. McPherson and Arthur H. M. Burghes (Published: June 1999)

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
Christian L. Lorson, Eric Hahnen, Elliot J. Androphy, and Brunhilde Wirth (Published: May 1999)

Spinal muscular atrophy: molecular pathophysiology
Nathalie H. Gendron, Alex E. MacKenzie (Published: April 1999)

A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing
Livo Pellizzoni, Naoyuki Kataoka, Bernard Charroux, Gideon Dreyfuss (Published: November 1998)

Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene
S. Selig, S. Bruno, J. M. Scharf, C. H. Wang, E. Vitale, T. C. Gilliam, and L. M. Kunkel (Published: April 1995)

Refinement of the Spinal Muscular Atrophy Locus by Genetic and Physical Mapping
C. H. Wang, P. W. Kleyn, E. Vitale, B. M. Ross, L. Lien, J. Xu, T. A. Carter, L. M. Brzustowicz, S. Obici, S. Selig, L. Pavone, E. Parano, G. K. Penchaszadeh, T. Munsat, L. M. Kunkel, and T. C. Gilliam (Published: January 1995)

Linkage Disequilibrium and Haplotype Analysis among Polish Families with Spinal Muscular Atrophy
L. M. Brzustowicz, C. H. Wang, D. Matseoane, P. W. Kleyn, E. Vitale, K. Das, G. K. Penchaszadeh, T. L. Munsat, I. Hausmanowa-Petrusewicz, and T. C. Gilliam (Published: January 1995)