Petra Kaufmann

Petra Kaufmann

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Petra Kaufmann

Publications by authors named "Petra Kaufmann"

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Resources to assist in the transition to a single IRB model for multisite clinical trials.

Contemp Clin Trials Commun 2019 Sep 19;15:100423. Epub 2019 Jul 19.

Clinical Trials Transformation Initiative, United States.

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http://dx.doi.org/10.1016/j.conctc.2019.100423DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6667781PMC
September 2019

Privacy-Preserving Linkage of Genomic and Clinical Data Sets.

IEEE/ACM Trans Comput Biol Bioinform 2019 Jul-Aug;16(4):1342-1348. Epub 2018 Jul 30.

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http://dx.doi.org/10.1109/TCBB.2018.2855125DOI Listing
July 2018

Facilitating Clinical Studies in Rare Diseases.

Adv Exp Med Biol 2017 ;1031:125-140

National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, 20892-1851, USA.

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http://dx.doi.org/10.1007/978-3-319-67144-4_6DOI Listing
June 2018

Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective.

Clin Transl Sci 2018 01 23;11(1):11-20. Epub 2017 Oct 23.

National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA.

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http://dx.doi.org/10.1111/cts.12501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5759730PMC
January 2018

Treatment Advances in Spinal Muscular Atrophy.

Curr Neurol Neurosci Rep 2017 Oct 6;17(11):91. Epub 2017 Oct 6.

National Center for Advancing Translational Sciences (NCATS)/NIH, Bethesda, MD, USA.

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http://link.springer.com/10.1007/s11910-017-0798-y
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http://dx.doi.org/10.1007/s11910-017-0798-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5678931PMC
October 2017

'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases.

Eur J Hum Genet 2017 02 26;25(2):162-165. Epub 2016 Oct 26.

Department of Genetics, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1038/ejhg.2016.137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5255942PMC
February 2017

Transforming Evidence Generation to Support Health and Health Care Decisions.

N Engl J Med 2016 Dec;375(24):2395-2400

From the Office of the Commissioner (R.M.C., R.E.S.) and the Centers for Drug Evaluation and Research (M.A.R., J. Woodcock), Biologics Evaluation and Research (P.W.M.), and Devices and Radiological Health (J.S.), Food and Drug Administration, Silver Spring, the Office of the Director (A.B.B.) and the Center for Evidence and Practice Improvement (C.D.), Agency for Healthcare Research and Quality, Rockville, the National Center for Complementary and Integrative Health (J.P.B.), the Office of the Director (F.S.C.), and the National Center for Advancing Translational Sciences (P.K.) and Office of Extramural Research Activities (M.L.), National Institutes of Health, Bethesda, and the Centers for Medicare and Medicaid Services, Baltimore (P.H.C., A.M.S.) - all in Maryland; formerly the U.S. Army Office of the Surgeon General Pharmacovigilance Center, Falls Church, VA (T.S.C.); the Office of the Under Secretary for Health, Department of Veterans Affairs (D.J.S.), the Office of Health Policy, Office of the Assistant Secretary for Planning and Evaluation, (N.D.L., S.R.S.), the Office of the Assistant Secretary for Health (K.B.D.), and the Office of the National Coordinator for Health Information Technology (B.V.W., P.J.W.), Department of Health and Human Services, the National Academy of Medicine (V.J.D., J.M.M.), and the Patient-Centered Outcomes Research Institute (R.L.F., J.V.S.), Washington, DC; the Center for Medication Safety, Department of Veterans Affairs, Hines, IL (F.E.C.); the Department of Health Care Policy, Harvard University (R.G.F.), the Million Veteran Program, Veterans Affairs Boston Healthcare System-Division of Aging, Brigham and Women's Hospital and Harvard Medical School (J.M.G.), and the Department of Surgery, Boston University School of Medicine (J. Woodson), Boston; and the Office of Public Health Scientific Services, Centers for Disease Control and Prevention, Atlanta (C.R.).

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http://dx.doi.org/10.1056/NEJMsb1610128DOI Listing
December 2016

Central institutional review board review for an academic trial network.

Acad Med 2015 Mar;90(3):321-3

Dr. Kaufmann is director, Division of Clinical Innovation, National Center for Advancing Translational Sciences, and former director, Office of Clinical Research, National Institute for Neurological Disorders and Stroke, Bethesda, Maryland. Dr. O'Rourke is director, Human Research Affairs, and director, Partners Human Embryonic Stem Cell Research Oversight, Partners HealthCare, Boston, Massachusetts.

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http://dx.doi.org/10.1097/ACM.0000000000000562DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4859204PMC
March 2015

Reply: To PMID 23893312.

Muscle Nerve 2014 Sep 5;50(3):458-9. Epub 2014 Aug 5.

Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, Florida, USA.

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http://dx.doi.org/10.1002/mus.24317DOI Listing
September 2014

Observational study of spinal muscular atrophy type I and implications for clinical trials.

Neurology 2014 Aug 30;83(9):810-7. Epub 2014 Jul 30.

From the Departments of Neurology (R.S.F., A.R.F., M.L.Y.), Pediatrics (R.S.F., A. R.F., M.L.Y., M.B.), and Physical Therapy (A.M.G., J.F.),The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (R.S.F., A.R.F., M.L.Y.), Philadelphia; Departments of Biostatistics and Computational Biology (M.P.M.) and Neurology (M.P.M., W.B.M.), University of Rochester, NY; Departments of Neurology (P.K., D.M.S., J. Montes, S.D., J.O., M.M., J. Marra, D.C.D.V.) and Pediatrics (W.K.C., D.M.S., P.A.R., D.C.D.V.), Columbia University, New York, NY; Departments of Neurology (B.T.D., P.B.K.) and Physical Therapy (J.Q., S.R.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (C.G.), University of South Florida, Tampa; and Departments of Neurology & Neurosurgery (M.O.) and Pediatrics (M.O.), McGill University, Montreal, Canada. R.S.F. is currently with the Division of Neurology, Nemours Children's Hospital, Orlando, FL. P.B.K. is currently with the Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL.

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http://dx.doi.org/10.1212/WNL.0000000000000741DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4155049PMC
August 2014

The motor neuron response to SMN1 deficiency in spinal muscular atrophy.

Muscle Nerve 2014 May;49(5):636-44

Department of Neurology, Boston Children's Hospital and Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA.

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http://dx.doi.org/10.1002/mus.23967DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4090017PMC
May 2014

Cerebral metabolic abnormalities in A3243G mitochondrial DNA mutation carriers.

Neurology 2014 Mar 29;82(9):798-805. Epub 2014 Jan 29.

From the Department of Radiology (N.W., X.M., D.S.), Weill Cornell Medical College, New York; and Department of Neurology (P.K., K.M.E., V.H., S.D., D.D.V.), Columbia University College of Physicians and Surgeons, New York, NY.

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http://dx.doi.org/10.1212/WNL.0000000000000169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3945652PMC
March 2014

Carotid intervention: is it warranted in asymptomatic individuals if risk factors are aggressively managed?

Stroke 2014 Mar 6;45(3):e40-1. Epub 2014 Feb 6.

From the Office of Science Policy and Planning (K.P.), Office of Clinical Research (P.K.), and Office of the Director (W.K.), National Institutes of Health, National Institute of Neurological Disorders and Stroke, Bethesda, MD.

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https://www.ahajournals.org/doi/10.1161/STROKEAHA.114.003891
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http://dx.doi.org/10.1161/STROKEAHA.114.003891DOI Listing
March 2014

What got us here will not get us there.

Authors:
Petra Kaufmann

J Neuromuscul Dis 2014;1(2):117-118

Division of Clinical Innovation at the National Center for Advancing Translational Sciences (NCATS), NIH, Bethesda, MD, USA.

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January 2014

Independent mobility after early introduction of a power wheelchair in spinal muscular atrophy.

J Child Neurol 2013 May 6;28(5):576-82. Epub 2012 Jul 6.

Neurology Department, Columbia University Medical Center, New York, NY 10032, USA.

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http://journals.sagepub.com/doi/10.1177/0883073812449383
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http://dx.doi.org/10.1177/0883073812449383DOI Listing
May 2013

Infrastructure resources for clinical research in amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2013 May;14 Suppl 1:53-61

Neurological Clinical Research Institute (NCRI), Massachusetts General Hospital, Boston, Massachusetts 02129, USA.

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http://dx.doi.org/10.3109/21678421.2013.779058DOI Listing
May 2013

Funding agencies and disease organizations: resources and recommendations to facilitate ALS clinical research.

Amyotroph Lateral Scler Frontotemporal Degener 2013 May;14 Suppl 1:62-6

Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.3109/21678421.2013.778588DOI Listing
May 2013

Body mass index (BMI) as predictor of ALSFRS-R score decline in ALS patients.

Amyotroph Lateral Scler Frontotemporal Degener 2013 Apr 1;14(3):212-6. Epub 2013 Mar 1.

Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.3109/21678421.2013.770028DOI Listing
April 2013

Common data elements for clinical research in Friedreich's ataxia.

Mov Disord 2013 Feb 12;28(2):190-5. Epub 2012 Dec 12.

Department of Neurology, University of Pennsylvania and the Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/mds.25201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581713PMC
February 2013

Strength, Hardening, and Failure Observed by In Situ TEM Tensile Testing.

Adv Eng Mater 2012 Nov 7;14(11):960-967. Epub 2012 May 7.

Department of Materials Physics, Montanuniversität Leoben, Jahnstraße 12 8700 Leoben, Austria ; National Center for Electron Microscopy, Lawrence Berkeley National Laboratory 94720 Berkeley, CA, USA.

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http://dx.doi.org/10.1002/adem.201200031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573867PMC
November 2012

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

Age at disease onset predicts likelihood and rapidity of growth failure among infants and young children with spinal muscular atrophy types 1 and 2.

J Child Neurol 2012 Jul 30;27(7):845-51. Epub 2012 Mar 30.

Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, NY 10032-3791, USA.

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http://dx.doi.org/10.1177/0883073811415680DOI Listing
July 2012

Clinical research for neuropathies.

Authors:
Petra Kaufmann

J Peripher Nerv Syst 2012 May;17 Suppl 2:40-2

Office of Clinical Research, National Institute of Neurological Disorders and Stroke, 6001 Executive Blvd., Bethesda, MD 20892-9520, USA.

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http://dx.doi.org/10.1111/j.1529-8027.2012.00394.xDOI Listing
May 2012

Neuroscience networking: linking discovery to drugs.

Neuropsychopharmacology 2012 Jan;37(1):287-9

Office of Translational Research, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.

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http://www.nature.com/articles/npp2011177
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http://dx.doi.org/10.1038/npp.2011.177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3238066PMC
January 2012

Adding more muscle and nerve to clinical trials.

Muscle Nerve 2011 Nov;44(5):695-702

Office of Clinical Research, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 6001 Executive Boulevard, Suite 2-216, Rockville, Maryland 20892, USA.

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http://dx.doi.org/10.1002/mus.22130DOI Listing
November 2011

Thigh muscle volume measured by magnetic resonance imaging is stable over a 6-month interval in spinal muscular atrophy.

J Child Neurol 2011 Oct 13;26(10):1252-9. Epub 2011 May 13.

Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, NY 10032-3791, USA.

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http://dx.doi.org/10.1177/0883073811405053DOI Listing
October 2011

Efficiency perspectives on adaptive designs in stroke clinical trials.

Stroke 2011 Oct 1;42(10):2990-4. Epub 2011 Sep 1.

Department of Biostatistics, Columbia University, 722 W 168th Street, New York, NY 10032, USA.

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https://www.ahajournals.org/doi/10.1161/STROKEAHA.111.620765
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http://dx.doi.org/10.1161/STROKEAHA.111.620765DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3183258PMC
October 2011

Fatigue leads to gait changes in spinal muscular atrophy.

Muscle Nerve 2011 Apr;43(4):485-8

Department of Neurology, Columbia University Medical Center, 180 Ft. Washington Avenue, Fifth Floor, New York, New York 10032, USA.

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http://dx.doi.org/10.1002/mus.21917DOI Listing
April 2011

Muscle volume estimation by magnetic resonance imaging in spinal muscular atrophy.

J Child Neurol 2011 Mar 6;26(3):309-17. Epub 2010 Oct 6.

Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, New York 10032-3791, USA.

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http://dx.doi.org/10.1177/0883073810380457DOI Listing
March 2011

The authorship lottery: an impediment to research collaboration?

Ann Neurol 2010 Dec;68(6):782-6

National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1002/ana.22232DOI Listing
December 2010

Bioelectrical impedance analysis can be a useful screen for excess adiposity in spinal muscular atrophy.

J Child Neurol 2010 Nov 13;25(11):1348-54. Epub 2010 Apr 13.

Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, New York 10032-3791, USA.

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http://journals.sagepub.com/doi/10.1177/0883073810365185
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http://dx.doi.org/10.1177/0883073810365185DOI Listing
November 2010

Experience with the Awaji Island modifications to the ALS diagnostic criteria.

Muscle Nerve 2010 Nov;42(5):831-2

Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA.

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http://dx.doi.org/10.1002/mus.21841DOI Listing
November 2010

Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation.

Arch Neurol 2010 Aug;67(8):976-9

Department of Neurology, Columbia University, 710 W 168th St, New York, NY 10032, USA.

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http://dx.doi.org/10.1001/archneurol.2010.174DOI Listing
August 2010

Therapeutic developments in spinal muscular atrophy.

Ther Adv Neurol Disord 2010 May;3(3):173-85

Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, Harkness Pavilion, HP-514, 180 Fort Washington Avenue, New York, NY 10032-3791, USA.

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http://dx.doi.org/10.1177/1756285610369026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3002649PMC
May 2010

Design and evaluation of a hybrid passive and active gravity neutral orthosis (GNO).

Conf Proc IEEE Eng Med Biol Soc 2009 ;2009:1573-6

Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, NY 10032 USA.

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http://ieeexplore.ieee.org/document/5332578/
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http://dx.doi.org/10.1109/IEMBS.2009.5332578DOI Listing
March 2010

Web-based data management for a phase II clinical trial in ALS.

Amyotroph Lateral Scler 2009 Oct-Dec;10(5-6):374-7

Department of Biostatistics, Mailman School of Public Health, Columbia University, 722 West 168th Street, New York, NY 10032, USA.

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http://dx.doi.org/10.3109/17482960802378998DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5810546PMC
February 2010

Scoliosis surgery in children with neuromuscular disease: findings from the US National Inpatient Sample, 1997 to 2003.

Arch Neurol 2010 Feb;67(2):231-5

Division of Pediatric Neurosciences, Department of Neurology, Spinal Muscular Atrophy Clinical Research Center, Columbia University Medical Center, 180 Fort Washington Ave., New York, NY 10032-3791, USA.

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http://columbiasma.org/docs/Scoliosis%20Surgery%20in%20child
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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archneurol.2009.296DOI Listing
February 2010

Association of autistic spectrum disorders with dystrophinopathies.

Pediatr Neurol 2009 Nov;41(5):339-46

Gertrude H. Sergievsky Center, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2009.05.011DOI Listing
November 2009

Missed opportunities for duchenne muscular dystrophy.

Authors:
Petra Kaufmann

J Pediatr 2009 Sep;155(3):309-10

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http://dx.doi.org/10.1016/j.jpeds.2009.03.034DOI Listing
September 2009

Clinical outcome measures in spinal muscular atrophy.

J Child Neurol 2009 Aug 9;24(8):968-78. Epub 2009 Jun 9.

Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.

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http://dx.doi.org/10.1177/0883073809332702DOI Listing
August 2009

Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophy.

Neuromuscul Disord 2009 Jun 7;19(6):391-6. Epub 2009 May 7.

Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, Harkness Pavilion, HP-514, 180 Fort Washington Avenue, New York, NY 10032-3791, USA.

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http://dx.doi.org/10.1016/j.nmd.2009.03.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2729661PMC
June 2009

Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS.

Am J Med Genet A 2009 Feb;149A(4):584-7

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA.

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http://dx.doi.org/10.1002/ajmg.a.32703DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2663596PMC
February 2009

Survival in SMA type 1.

Neuromuscul Disord 2009 Jan 12;19(1):76; author reply 76. Epub 2008 Dec 12.

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http://dx.doi.org/10.1016/j.nmd.2008.10.010DOI Listing
January 2009

Protean phenotypic features of the A3243G mitochondrial DNA mutation.

Arch Neurol 2009 Jan;66(1):85-91

Department of Neurology, The Neurological Institute, Columbia University Medical Center, New York, NY 10032, USA.

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http://dx.doi.org/10.1001/archneurol.2008.526DOI Listing
January 2009

Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome.

Ann N Y Acad Sci 2008 Oct;1142:133-58

Columbia University, Pediatric Neurology, 180 Fort Washington Ave., Harkness Pavilion, 5th floor, New York, NY 10032, USA.

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http://dx.doi.org/10.1196/annals.1444.011DOI Listing
October 2008

Spinal muscular atrophy.

Neurotherapeutics 2008 Oct;5(4):499-506

Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.nurt.2008.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4514700PMC
October 2008

Clinical trials in spinal muscular atrophy.

Phys Med Rehabil Clin N Am 2008 Aug;19(3):653-60, xii

The Neurological Institute, Columbia University, 710 West 168th Street, NY 10032, USA.

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http://dx.doi.org/10.1016/j.pmr.2008.04.006DOI Listing
August 2008

A novel tRNA(Val) mitochondrial DNA mutation causing MELAS.

J Neurol Sci 2008 Jul 7;270(1-2):23-7. Epub 2008 Mar 7.

Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1016/j.jns.2008.01.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6195319PMC
July 2008

Wolff-Parkinson-White syndrome in Patients With MELAS.

Arch Neurol 2007 Nov;64(11):1625-7

Division of Pediatric Neurology, Department of Neurology, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1001/archneur.64.11.1625DOI Listing
November 2007

Excellent inter-rater, intra-rater, and telephone-administered reliability of the ALSFRS-R in a multicenter clinical trial.

Amyotroph Lateral Scler 2007 Feb;8(1):42-6

Department of Neurology, The Eleanor and Lou Gehrig MDA/ALS Research Center, College of Physicians and Surgeons, New York, NY, USA.

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http://dx.doi.org/10.1080/17482960600888156DOI Listing
February 2007

ALS Research Group (ALSRG): second meeting, a summary report.

Amyotroph Lateral Scler 2006 Dec;7(4):252-5

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http://dx.doi.org/10.1080/07853890601012096DOI Listing
December 2006

Nerve conduction abnormalities in patients with MELAS and the A3243G mutation.

Arch Neurol 2006 May;63(5):746-8

Department of Neurology, Columbia University, 710 W. 168th Street, New York, NY 10032, USA.

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http://dx.doi.org/10.1001/archneur.63.5.746DOI Listing
May 2006

Small-Fiber Neuropathy Associated with Capecitabine (Xeloda)-induced Hand-foot Syndrome: A Case Report.

J Clin Neuromuscul Dis 2006 Mar;7(3):128-32

*Department of Neurology, Memorial Sloan-Kettering Cancer Center, Rehabilitation Medicine Service daggerDepartment of Neurology, New York-Presbyterian Hospital, Neurological Institute double daggerMemorial Sloan-Kettering Cancer Center, Breast Cancer Medicine Service, New York City, NY.

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http://dx.doi.org/10.1097/01.cnd.0000211401.19995.a2DOI Listing
March 2006

Muscle coenzyme Q10 level in statin-related myopathy.

Arch Neurol 2005 Nov;62(11):1709-12

Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Unita' Operativa, Neurologia, Istituto di Ricovero e Cura a Carattere Scientifico Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1001/archneur.62.11.1709DOI Listing
November 2005

Clinical and biochemical heterogeneity in an Italian family with CPT II deficiency due to Ser 113 Leu mutation.

Can J Neurol Sci 2005 Aug;32(3):316-20

Department of Pediatrics, The Hospital for Sick Children , University of Toronto, Toronto, Ontario.

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http://dx.doi.org/10.1017/s0317167100004194DOI Listing
August 2005

Hypocitrullinemia in patients with MELAS: an insight into the "MELAS paradox".

J Neurol Sci 2005 Mar 15;229-230:187-93. Epub 2004 Dec 15.

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.

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http://dx.doi.org/10.1016/j.jns.2004.11.026DOI Listing
March 2005

Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.

Arch Neurol 2005 Mar;62(3):473-6

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.

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http://dx.doi.org/10.1001/archneur.62.3.473DOI Listing
March 2005

Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis.

Am J Med Genet A 2004 Oct;130A(2):134-7

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30220
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http://dx.doi.org/10.1002/ajmg.a.30220DOI Listing
October 2004

Randomized control trials in ALS: lessons learned.

Amyotroph Lateral Scler Other Motor Neuron Disord 2004 Sep;5 Suppl 1:8-13

The Eleanor and Lou Gehrig MDA/ALS Research Center, Columbia University Medical Center, USA.

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http://dx.doi.org/10.1080/17434470410019942DOI Listing
September 2004

A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis.

Brain Pathol 2004 Jul;14(3):290-6

Departments of Pathology, College of Physicians and Surgeons, Columbia University, NewYork, NY 10032, USA.

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July 2004

Amyotrophic lateral sclerosis and primary lateral sclerosis: evidence-based diagnostic evaluation of the upper motor neuron.

Neuroimaging Clin N Am 2003 May;13(2):307-26

Department of Radiology, Columbia University, New York-Presbyterian Hospital, Milstein Hospital Building, 3rd Floor, 177 Fort Washington Avenue, New York, NY 10032, USA.

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May 2003

A 14-year-old male with asymptomatic proteinuria and hearing loss.

Am J Kidney Dis 2003 Jan;41(1):259-64

Department of Pathology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA.

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http://dx.doi.org/10.1053/ajkd.2003.50068DOI Listing
January 2003

Clinical features and genetics of myoclonic epilepsy with ragged red fibers.

Adv Neurol 2002 ;89:217-29

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York, USA.

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October 2002

Motor Unit Estimate Number in the Anterior Tibial Muscle: Normative Data versus Findings in Critically Ill Patients in Intensive Care Units.

J Clin Neuromuscul Dis 2002 Jun;3(4):139-42

From the *Department of Clinical Neurophysiology, National University Hospital, Copenhagen Denmark; and daggerColumbia University College of Physicians & Surgeons, New York, NY, U.S.A.

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June 2002

Amyotrophic lateral sclerosis: objective upper motor neuron markers.

Curr Neurol Neurosci Rep 2002 Jan;2(1):55-60

Neurological Institute, 9th Floor, 710 West 168th Street, New York, NY 10032, USA.

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January 2002