Kathryn J Swoboda

Kathryn J Swoboda

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Kathryn J Swoboda

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Impaired kidney structure and function in spinal muscular atrophy.

Neurol Genet 2019 Oct 12;5(5):e353. Epub 2019 Aug 12.

Department of Neurology (F.C.N., J.J.S., A.W.M., P.N., A.J.J., R.Z., M.F., N.H., C.R.R.A., K.J.S.), Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Department of Pathology (I.R.), Massachusetts General Hospital, Boston, MA; Regenerative Medicine Program (M.-O.D., R.K.), Ottawa Hospital Research, Institute Ottawa, Ontario, Canada; Department of Cellular and Molecular Medicine (M.-O.D., R.K.), University of Ottawa, Canada; Centre for Neuromuscular Disease (M.-O.D., R.K.), University of Ottawa, Ottawa, Ontario, Canada; Division of Pediatric Nephrology (A.S.), Massachusetts General Hospital, Boston, MA; Department of Biology (N.H.), Federal University of São Carlos, Sorocaba, Sao Paulo, SP, Brazil; and Department of Medicine (R.K.), University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6705648PMC
October 2019

Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies.

Neurology 2019 May 24;92(21):e2492-e2506. Epub 2019 Apr 24.

From the Department of Neurology (B.T.D.), Boston Children's Hospital, MA; Departments of Neurology (C.A.C., J.M., D.C.D.), Pediatrics (C.A.C., D.C.D.), and Rehabilitation and Regenerative Medicine (J.M.), Columbia University Irving Medical Center, New York, NY; Department of Pediatrics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston; Ionis Pharmaceuticals, Inc. (L.M., S.X., C.F.B., E.S.), Carlsbad, CA; employee of Ionis Pharmaceuticals, Inc. (K.M.B.), Carlsbad, CA, during design and conduct of this study, current employee of Otonomy, San Diego, CA; Department of Neurology (J.M.S.), Barrow Neurologic Institute, Phoenix, AZ; Excel Scientific Solutions (A.M.G.), Southport, CT; and Biogen (P.S., I.B., S.G., W.F.), Cambridge, MA.

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http://dx.doi.org/10.1212/WNL.0000000000007527DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6541434PMC
May 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-10161-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626PMC
May 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-08800-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377600PMC
February 2019

Genotype-structure-phenotype relationships diverge in paralogs , , and .

Neurol Genet 2019 Feb 4;5(1):e303. Epub 2019 Feb 4.

Department of Neurosurgery (K.J. Sweadner, E.A., J.T.P.), Center for Human Genetics Research (K.J. Swoboda), and Department of Neurology, (K.J. Swoboda, L.J.O.) Massachusetts General Hospital, Boston; and the Department of Neurology (A.B.), Wake Forest School of Medicine, Winston-Salem, NC.

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http://dx.doi.org/10.1212/NXG.0000000000000303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384024PMC
February 2019

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://www.nature.com/articles/s41467-018-06014-6
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http://dx.doi.org/10.1038/s41467-018-06014-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218476PMC
November 2018

Harnessing the power of the patient perspective for rare disease therapeutics.

Neurology 2018 09 24;91(13):585-586. Epub 2018 Aug 24.

From the Center for Human Genomics, Massachusetts General Hospital Department of Neurology, Boston.

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http://dx.doi.org/10.1212/WNL.0000000000006230DOI Listing
September 2018

Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood.

Neurobiol Dis 2018 07 19;115:29-38. Epub 2018 Mar 19.

Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2018.03.009DOI Listing
July 2018

Novel Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes.

Child Neurol Open 2018 23;5:2329048X18789282. Epub 2018 Jul 23.

Pediatric Motor Disorders Research Program, Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1177/2329048X18789282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6056774PMC
July 2018

Case 38-2017. A 20-Year-Old Woman with Seizures and Progressive Dystonia.

N Engl J Med 2017 Dec;377(24):2376-2385

From the Departments of Neurology (F.S.E., K.J.S., A.L.H.) and Radiology (O.R.), Massachusetts General Hospital, the Departments of Neurology (F.S.E., K.J.S., A.L.H.), Ophthalmology (D.M.C.), and Radiology (O.R.), Harvard Medical School, and the Department of Ophthalmology, Massachusetts Eye and Ear Infirmary (D.M.C.) - all in Boston.

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http://dx.doi.org/10.1056/NEJMcpc1706109DOI Listing
December 2017

Pregnancy and delivery in women with spinal muscular atrophy.

Int J Neurosci 2017 Nov 5;127(11):953-957. Epub 2017 Feb 5.

d Department of Neurology , The Ohio State University Wexner Medical Center, Columbus , OH , USA.

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http://dx.doi.org/10.1080/00207454.2017.1281273DOI Listing
November 2017

Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.

Pediatr Neurol 2017 Aug 29;73:101-105. Epub 2017 Apr 29.

Pediatric Neurology, Connecticut Children's Medical Center, University of Connecticut, Hartford, Connecticut.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.04.022DOI Listing
August 2017

Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum.

Pediatrics 2017 Jul;140(Suppl 1):S24-S45

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina

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http://dx.doi.org/10.1542/peds.2016-0280EDOI Listing
July 2017

Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR.

Neuromuscul Disord 2017 May 6;27(5):439-446. Epub 2017 Feb 6.

Center for Applied Clinical Genomics, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Center for Pediatric Research, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA; Department of Biological Sciences, University of Delaware, Newark, DE, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5403612PMC
May 2017

Emerging therapies and challenges in spinal muscular atrophy.

Ann Neurol 2017 Mar 17;81(3):355-368. Epub 2017 Feb 17.

Brain & Mind Centre and Sydney Medical School, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1002/ana.24864DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5396275PMC
March 2017

NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.

Neurology 2016 Sep 24;87(11):1131-9. Epub 2016 Aug 24.

From the Department of Biology and Howard Hughes Medical Institute (E.G.B., E.M.J.), and Department of Pathology (Y.S., P.B.-T.), University of Utah, Salt Lake City; ARUP Institute for Clinical and Experimental Pathology (Y.S., P.B.-T.), Salt Lake City, UT; Division of Medical Genetics (D.A.S.), Department of Pediatrics, Stanford University, CA; Department of Neurology (T.M.N.), Pediatric Motor Disorders Research Program, University of Utah School of Medicine, Salt Lake City; and Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston.

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http://dx.doi.org/10.1212/WNL.0000000000003095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027803PMC
September 2016

Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy.

Neurology 2016 Mar 10;86(10):890-7. Epub 2016 Feb 10.

From the Departments of Neurology (C.A.C., J.M., D.C.D.) and Rehabilitative and Regenerative Medicine (J.M.), Columbia University, New York, NY; Department of Neurology (K.J.S.), University of Utah, Salt Lake City; Department of Neurology (B.T.D.), Boston Children's Hospital, Boston, MA; Department of Pediatrics (S.T.I.), University of Texas Southwestern Medical School, Dallas; and Ionis Pharmaceuticals, Inc. (formerly Isis Pharmaceuticals, Inc.) (D.A.N., C.F.B., K.M.B.), Carlsbad, CA.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000002445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782111PMC
March 2016

Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II.

J Pediatr 2015 Dec 9;167(6):1362-8.e1. Epub 2015 Oct 9.

Pediatric Motor Disorders Research Program, Department of Neurology, University of Utah, Salt Lake City, UT. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00223476150102
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http://dx.doi.org/10.1016/j.jpeds.2015.09.023DOI Listing
December 2015

Astrocytes influence the severity of spinal muscular atrophy.

Hum Mol Genet 2015 Jul 24;24(14):4094-102. Epub 2015 Apr 24.

Department of Veterinary Pathobiology and Department of Molecular Microbiology and Immunology, University of Missouri, Bond Life Sciences Center, Columbia, MO 65211, USA,

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http://dx.doi.org/10.1093/hmg/ddv148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5007659PMC
July 2015

SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR.

Mol Genet Genomic Med 2015 Jul 21;3(4):248-57. Epub 2015 Mar 21.

Center for Applied Clinical Genomics, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children Wilmington, Delaware ; Department of Biological Sciences, University of Delaware Newark, Delaware ; Center for Pediatric Research, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children Wilmington, Delaware ; Department of Pediatrics, Thomas Jefferson University Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/mgg3.141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521962PMC
July 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.

Pediatr Neurol 2015 Jan 13;52(1):56-64. Epub 2014 Oct 13.

Department of Neurology, Pediatric Motor Disorders Research Program, University of Utah School of Medicine, Salt Lake City, Utah. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.09.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352574PMC
January 2015

Perceptions of equine-assisted activities and therapies by parents and children with spinal muscular atrophy.

Pediatr Phys Ther 2014 ;26(2):237-44

Utah Valley Regional Medical Center (Ms Lemke), Provo, Utah; University of Utah College of Nursing (Dr Rothwell), Salt Lake City, Utah; University of Utah School of Medicine Neurology Department (Ms Newcomb and Dr Swoboda), Salt Lake City, Utah.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/PEP.0000000000000027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3970180PMC
December 2014

Disclosure of genetic research results to members of a founder population.

J Genet Couns 2014 Dec 29;23(6):984-91. Epub 2014 Apr 29.

Department of Human Genetics, University of Chicago, 5841 S. Maryland Ave. M/C 0077, Chicago, IL, 60637, USA.

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http://dx.doi.org/10.1007/s10897-014-9721-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4337808PMC
December 2014

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

J Med Genet 2014 Dec 23;51(12):806-13. Epub 2014 Oct 23.

Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, Hampshire, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102798DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4251168PMC
December 2014

Nutritional practices at a glance: spinal muscular atrophy type I nutrition survey findings.

J Child Neurol 2014 Nov 4;29(11):1467-72. Epub 2013 Oct 4.

Pediatric Motor Disorders Research Program, University of Utah, Department of Neurology, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1177/0883073813503988DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4334580PMC
November 2014

Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis.

Neurology 2014 Apr 19;82(15):1322-30. Epub 2014 Mar 19.

From the Departments of Neurology (R.J.B., T.M.N., J.L.B., K.J.S.) and Pediatrics (R.J.B., T.J.S., L.X., J.L.B., K.J.S.), Pediatric Motor Disorders Research Program (R.J.B., T.M.N., B.N., K.J.S.), and Interdepartmental Program in Neurosciences (L.X.), University of Utah School of Medicine, Salt Lake City, UT; Ambry Genetics (W.Z., X.L., H-M.L., H.L., K.D.F.G., J-P.W., E.C.C., P.J.S.), Aliso Viejo, CA; Division of Genetics & Metabolism (E.C.C.), University of California, Irvine; and Department of Molecular Pathology (T.W.P.), Ohio State University, Columbus.

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http://www.neurology.org/content/82/15/1322.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000030
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http://dx.doi.org/10.1212/WNL.0000000000000305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001186PMC
April 2014

SMN-targeted therapeutics for spinal muscular atrophy: are we SMArt enough yet?

J Clin Invest 2014 Feb 27;124(2):487-90. Epub 2014 Jan 27.

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http://dx.doi.org/10.1172/JCI74142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3904635PMC
February 2014

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Lancet Neurol 2013 Dec 30;12(12):1159-69. Epub 2013 Oct 30.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1016/S1474-4422(13)70258-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349523PMC
December 2013

LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy.

Ann Neurol 2013 Apr 20;73(4):481-8. Epub 2013 Feb 20.

Center for Gene Therapy, Nationwide Children' Hospital, Columbus, OH; Department of Pediatrics, Ohio State University, Columbus, OH; Department of Neurology, Ohio State University, Columbus, OH.

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http://dx.doi.org/10.1002/ana.23819DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4106425PMC
April 2013

Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy.

Am J Med Genet A 2013 Apr 26;161A(4):679-86. Epub 2013 Feb 26.

College of Nursing, University of Utah, Salt Lake City, UT 84112, USA.

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http://dx.doi.org/10.1002/ajmg.a.35756DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3606635PMC
April 2013

Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study.

PLoS One 2012 27;7(4):e35462. Epub 2012 Apr 27.

Department of Neurology and Pediatrics, The Children's Hospital of Philadelphia and The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0035462PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3338723PMC
September 2012

New therapeutic approaches to spinal muscular atrophy.

Curr Neurol Neurosci Rep 2012 Feb;12(1):42-53

Division of Physical Medicine and Rehabilitation, University of Utah School of Medicine, 30 North 1900 East, Salt Lake City, UT 84132, USA.

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http://dx.doi.org/10.1007/s11910-011-0240-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3260050PMC
February 2012

A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites.

Eur J Hum Genet 2011 Oct 25;19(10):1045-51. Epub 2011 May 25.

Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA.

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http://dx.doi.org/10.1038/ejhg.2011.85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3190247PMC
October 2011

Reliability of the Modified Hammersmith Functional Motor Scale in young children with spinal muscular atrophy.

Muscle Nerve 2011 Aug 22;44(2):246-51. Epub 2011 Jun 22.

Department of Physical Therapy and Human Movement Sciences, Feinberg School of Medicine, Northwestern University, Suite 1100, 645 North Michigan Avenue, Chicago, Illinois 60611, USA.

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http://dx.doi.org/10.1002/mus.22040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3136587PMC
August 2011

Of SMN in mice and men: a therapeutic opportunity.

J Clin Invest 2011 Aug 25;121(8):2978-81. Epub 2011 Jul 25.

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http://dx.doi.org/10.1172/JCI58752DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148751PMC
August 2011

Alpha-synuclein loss in spinal muscular atrophy.

J Mol Neurosci 2011 Mar 17;43(3):275-83. Epub 2010 Jul 17.

Carman and Ann Adams Department of Pediatrics, Wayne State University, Detroit, MI, USA.

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http://dx.doi.org/10.1007/s12031-010-9422-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3918138PMC
March 2011

Seize the day: Newborn screening for SMA.

Am J Med Genet A 2010 Jul;152A(7):1605-7

Department of Neurology and Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA.

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http://dx.doi.org/10.1002/ajmg.a.33519DOI Listing
July 2010

A positive modifier of spinal muscular atrophy in the SMN2 gene.

Am J Hum Genet 2009 Sep 27;85(3):408-13. Epub 2009 Aug 27.

Department of Pathology, Ohio State University, Columbus, OH 43210, USA.

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http://dx.doi.org/10.1016/j.ajhg.2009.08.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2771537PMC
September 2009

Vascular perfusion abnormalities in infants with spinal muscular atrophy.

J Pediatr 2009 Aug;155(2):292-4

Federal University of Rio de Janeiro, Pediatrics, Rio de Janeiro, Brazil.

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http://dx.doi.org/10.1016/j.jpeds.2009.01.071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3250227PMC
August 2009

Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.

Neuromuscul Disord 2008 Jun 27;18(6):453-9. Epub 2008 May 27.

Departamento de Bioquímica, Hospital Universitario Puerta de Hierro, Instituto de Investigaciones Biomédicas, CSIC-UAM, CIBERER, ISCiii, Madrid, Spain.

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http://www.ant-tnsjournal.com/Mag_Files/18-4/dw2009111916284
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http://linkinghub.elsevier.com/retrieve/pii/S096089660800097
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http://dx.doi.org/10.1016/j.nmd.2008.04.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3891825PMC
June 2008

Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling.

J Child Neurol 2007 Aug;22(8):967-73

Charles P. Darby Children's Research Institute, Medical University of South Carolina, Charleston, South Carolina 29425, USA.

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http://dx.doi.org/10.1177/0883073807305664DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2787099PMC
August 2007

Spinal muscular atrophy genetic counseling access and genetic knowledge: parents' perspectives.

J Child Neurol 2007 Aug;22(8):1019-26

University of Utah School of Medicine, Salt Lake City, Utah 84132, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3260047PMC
August 2007

A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy.

Neuromuscul Disord 2006 Jul 5;16(7):417-26. Epub 2006 Jun 5.

Department of Physical Therapy and Human Movement Sciences, Feinberg School of Medicine, Northwestern University, Suite 1100, 645 North Michigan Avenue, Chicago, IL 60611, USA.

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http://dx.doi.org/10.1016/j.nmd.2006.03.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3260054PMC
July 2006

Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12.

Mol Genet Metab 2006 Jun 30;88(2):138-45. Epub 2006 Mar 30.

Division of Genetics, Children's Hospital Boston, MA 02115, USA.

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June 2006

An unusual pathologic feature associated with dermatomyositis.

Neuromuscul Disord 2006 Jun 11;16(6):391-3. Epub 2006 May 11.

Department of Neurology, University of Utah, Salt Lake City, UT, USA.

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June 2006

Natural history of denervation in SMA: relation to age, SMN2 copy number, and function.

Ann Neurol 2005 May;57(5):704-12

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4334582PMC
May 2005

Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2.

Am J Med Genet A 2004 Oct;130A(3):307-10

Department of Pathology, Ohio State University, Columbus, Ohio 43210, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349519PMC
October 2004

Counting motor units in chronic motor neuropathies.

Exp Neurol 2003 Nov;184 Suppl 1:S53-7

Department of Neurology, University of Utah, Salt Lake City, UT 84132, USA.

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November 2003