STAFF PUBLICATIONS

PETRA KAUFMANN, MD MSC

Original Articles

Bauer J, Kaufmann P, Klingmueller D, Elger CE. Serum prolactin response to repetitive epileptic seizures. J Neurol; 1994; 241; 242-245.

Kaufmann P, Koga Y, Shanske S, Hirano M, DiMauro S, King MP, Schon EA. Mitochondrial DNA and RNA processing in MELAS. Ann Neurol; 1996; 40;172-180.

Louis ED, Kaufmann P. Erbs’s explanation for the tendon reflexes. Links between science and the clinic. Arch Neurol; 1996; 53;1187-1189.

Louis ED, Lynch T, Kaufmann P, Fahn S, Odel J. Diagnostic guidelines in central nervous system Whipple’s disease., Ann Neurol; 1996; 40; 561-568.

Mojon D, Kaufmann P, Baker H, Lincoff NS, Odel JG, Hirano M. Vitamin status and mitochondrial DNA mutations in patients with incomplete recovery from an epidemic optic neuropathy in Cuba. Neuro-ophthalmology; 1996; 16; 355-360.

Mojon DS, Kaufmann P, Odel JG, Lincoff NS, Marquez-Fernandez M, Santiesteban R, Fuentes-Pelier D, Hirano M. Clinical course of a cohort in the cuban epidemic optic and peripheral neuropathy. Neurology; 1997; 48;19-22.

Kaufmann P, El-Schahawi M, DiMauro S. Carnitine palmitoyltransferase II deficiency: Diagnosis by molecular analysis of blood. Mol Cell Biochem; 1997; 174; 237-239.

Louis ED, Lynch T, Kaufmann P, Fahn S and Odel J. Three cases of central nervous system Whipple’s Disease. Review Series Dementia; 1998; 2; 20-22.

Kaufmann P, Mitsumoto H. Finger flexor weakness and atrophy in inclusion body myosits [case image report] J Clin Neuromusc Dis, 2001

Lovelace RE, Kaufmann P, Sulica L, Blitzer A. Laryngeal and phrenic nerve involvement in CMT disorder: another example of genetic heterogeneity, Acta Myol; 2001; 20; 29-32.

Sulica L, Blitzer A, Lovelace RE, Kaufmann P. Vocal fold paresis of Charcot-Marie-Tooth Disease. Annals of Otology, Rhinology & Laryngology 110;2001:1072-1076.

Louis ED, Barnes L, Wendt KJ, Ford B, Sangiorgio M, Tabbal S, Lewis L, Kaufmann P, Moskowitz C, Comella CL, Goetz CC and Lang AE. A teaching videotape for the assessment of essential tremor. Mov Disord; 2001; 16; 89-93.

Trojaborg W, Kaufmann P, Gooch CL. Motor unit estimate number in the anterior tibial muscle: normative data versus findings in critical ill patients in intensive care units. J Clin Neuromusc Dis, 2002; 3; 139-142.

DiMauro S, Hirano M, Kaufmann P, Tanji K, Sano M, Shungu DC, Bonilla E, De Vivo DC. Clinical features and genetics of myoclonic epilepsy with ragged red fibers. Adv Neurol 2002; 89; 217-229.

Kaufmann P, Mitsumoto H. Amyotrophic lateral sclerosis: objective upper motor neuron markers. Curr Neurol Neurosci Rep 2002; 2; 55-60.

Gooch C, Kaufmann P. Multiple point stimulation motor unit number estimation with integrated single motor unit tracking. Supplements to Clinical Neurophysiology 2003; 55; 72-76.

Gooch C, Kaufmann P. Multiple point stimulation motor unit number estimation with single motor unit tracking in a therapeutic ALS trial. Supplements to Clinical Neurophysiology 2003; 55; 284-285.

Chan S, Kaufmann P, Shungu DC, Mitsumoto H. Amyotrophic Lateral Sclerosis and Primary Lateral Sclerosis: Evidence-Based diagnostic evaluation of the upper motor neuron. Neurimaging Clinics 2003;13:307-326

Nasr SH, Corey H, Shanske S, Pancrudo J, Kaufmann P, Markowitz GS, DiMauro S, D’Agati VD. A 14-year-old male with asymptomatic proteinuria and hearing loss. Am J Kidney Dis 2003; 41:259-264

Kaufmann P, Shungu DC, Sano MC, Jhung S, Engelstad K, Mitsis E, Mao X, Shanske S, Hirano M, DiMauro S, De Vivo DC. Cerebral lactic acidosis correlates with neurological impairment in MELAS. Neurology 2004;62:1297-1302

Kaufmann P, Pullman SL, Shungu DC, Chan S, Hays AP, DelBene ML, Dover MA, Vukic M, Rowland LP, Mitsumoto H. Objective Tests for Upper Motor Neuron Involvement in Amyotrophic Lateral Sclerosis (ALS), Neurology 2004;62:1753-1757

Leung CL, He CZ, Kaufmann P, Chin SC, Liem RKH, Mitsumoto H, Hays AP. Pathogenic PRPH gene mutation in a patient with amyotrophic lateral sclerosis, Brain Pathol. 2004;14:290-6.Brain Pathology

Shanske S, Pancrudo J, Kaufmann P, Engelstad K, Jhung S, Lu J, DiMauro S, De Vivo DC. Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis. Am J Med Genet. 2004;130:134-7

Naini AB, Lu J, Kaufmann P, Bernstein RA, Mancuso M, Bonilla E, Hirano H, DiMauro S. Novel mtDNA ND5 mutation and MELAS-MERRF overlap. Arch Neurol 2005;62:473-6.

Kaufmann P, Levy G, Thompson JLP, DelBene ML, Battista V, Gordon PH, Rowland LP, Levin B, Mitsumoto H. The ALSFRSr predicts survival time in an ALS clinic population. Neurology 2005;64:38-43

Rafay MF, Murphy EG, McGarry JD, Kaufmann P, DiMauro S, Tein I. Clinical and biochemical heterogeneity in an Italian family with CPT II deficiency due to Ser 113 Leu mutation. Can J Neurol Sci 2005;32:316-20.

Naini A, Kaufmann P, Shanske S, Engelstad K, De Vivo DC, Schon EA. Hypocitrullinemia in patients with MELAS: An insight into the "MELAS paradox".J Neurol Sci 2005;229:187-93

Lamperti C, Naini AB, Lucchini V, Prelle A, Bresolin N, Moggio M, Sciacco M, Kaufmann P, DiMauro S. Muscle coenzyme Q10 level in statin-related myopathy, Arch Neurol 2005;62:1709-1712.

Kaufmann P, Engelstad KM, Wei Y, Jhung S, Sano MC, Shungu DC, Millar WM, Hong X, Gooch CL, Mao X, Pascual JM, Hirano M, Stacpoole PW, DiMauro S, De Vivo DC. Dichloroacetate causes toxic neuropathy in MELAS randomized, controlled clinical trial, Neurology 2006;66:324-30

Levy G, Kaufmann P, Buchsbaum R, Montes J, Barsdorf A, Arbing R, Battista V, Zhou X, Mitsumoto H, Levin B, Thompson JLP. A two-stage design for a phase II clinical trial of coenzyme Q10 in ALS, Neurology 2006;66:660-3

Gordon PH, Doorish C, Montes J, Mosely RL, Diamond B, Macarthur RB, Weimer LH, Kaufmann P, Hays AP, Rowland LP, Gendelman HE, Przedborski S, Mitsumoto H. Randomized controlled phase II trial of glatiramer acetate in ALS. Neurology 2006; 66:1117-1119.

Kaufmann P, Pascual, JM, Anziska Y, Gooch CL, Engelstad K, Jhung S, DiMauro S, De Vivo DC. Nerve conduction abnormalities in patients with MELAS and the A3243G mutation, Arch Neurol 2006,63:746-748.

Stubblefield MD, Custodio CM, Kaufmann P, Dickler MN. Small-fiber neuropathy associated with capecitabine (Xeloda)-induced hand-foot syndrome-a case report J Clin Neuromusc Dis. 2006;7;128-32

Montes J, Levy G, Albert S, Kaufmann P, Buchsbaum R, Gordon PH, Mitsumoto H. Development and evaluation of a self-administered version of the ALSFRS-R. Neurology 2006;67:1294-1296.

Kaufmann P, Levy G, Montes J, Buchsbaum R, Barsdorf AI, Battista V, Arbing R, Gordon PH, Mitsumoto H, Levin B, Thompson JLP. Excellent inter-rater, intra-rater, and telephone-administered reliability of the ALSFRS-R in a multicenter clinical trial. Amyotrophic Lateral Sclerosis 2007;8:42-46.

Oskoui M, Levy G, Garland CJ, Gray JM, O’Hagen J, De Vivo D, Kaufmann P.
The changing natural history of spinal muscular atrophy type 1. Neurology 2007;69:1931-1936

Mitsumoto H, Ulug AM, Pullman SL, Gooch CL, Chan S, Tang MX, Mao X, Hays AP, Floyd AG, Battista V, Montes J, Hayes S, Dashnaw S, Kaufmann P, Gordon PH, Hirsch J, Levin B, Rowland LP, Shungu DC. Quantitative objective markers for upper and lower motor neuron dysfunction in ALS. Neurology 2007;68:1402-10.

Gwinn K, Corriveau RA, Mitsumoto H, Bednarz K, Brown Jr RH, Cudkowicz M, Gordon PH, Hardy J, Kasarskis EJ, Kaufmann P, et al. Amyotrophic lateral sclerosis: An emerging era of collaborative gene discovery. PlosOne 2007;2:e1254

Sproule DM, Kaufmann P, Engelstad K, Starc TJ, Hordof AJ, De Vivo DC. Wolff-parkinson-white syndrome in patients with MELAS. Arch Neurol 2007;64:1625-1627

Tanji K, Kaufmann P, Naini AB, Parsons TC, Wang D, Wiley J, Lu J, Shanske S, Hirano M, Khandji AG,DiMauro S, Rowland LP. A novel tRNAVal mitochondrial DNA point mutation causing MELAS. J Neurol Science 2008; 270:23-27

Buchsbaum R, Kaufmann P, Barsdorf AI, Arbing R, Montes J, Thompson JL.Web-based data management for a phase II clinical trial in ALS.Amyotroph Lateral Scler 2008; 9:1-16

Gordon PH, Cheung YK, Levin B, Andrews H, Doorish C, Macarthur RB, Montes J, Bednarz K, Florence J, Rowin J, Boylan K, Mozaffar T, Tandan R, Mitsumoto H, Kelvin EA, Chapin J, Bedlack R, Rivner M, McCluskey LF, Pestronk A, Graves M, Sorenson EJ, Barohn RJ, Belsh JM, Lou JS, Levine T, Saperstein D, Miller RG, Scelsa SN; Combination Drug Selection Trial Study Group. A novel, efficient, randomized selection trial comparing combinations of drug therapy for ALS. Amyotroph Lateral Scler 2008;4:212-222.

Kaufmann P, Engelstad K, Kulikova R, Oskoui M, Battista V, Koenigsberger D, Pascual M, Sano M, Hirano M, DiMauro S, De Vivo DC. The protean phenotypic features of the A3243G mitochondrial DNA mutation, Arch Neurol, in press

Kaufmann P, Thompson JLP, Levy G, Buchsbaum R, Shefner J, Krivickas LS,
Katz J, Rollins Y, Barohn RJ, Jackson CE, Tiryaki E, Lomen-Hoerth C, Armon C,
Tandan R, Rudnicki SA, Rezania K, Sufit R, Pestronk A, Novella SP, Heiman-Patterson T, Kasarskis EJ, Pioro EP, Montes J, Arbing R, Vecchio D, Barsdorf AI, Mitsumoto H, Levin B, and the QALS Study Group. Phase II trial of CoQ10 for ALS finds insufficient evidence to justify Phase III. Ann Neurol, submitted

Editorials, Reviews, letters and Book Chapters

Bauer J, Kaufmann P, Klingmueller D, Elger CE. Similar postictal serum prolactin response in complex partial seizures of temporal or frontal lobe onset [letter]. Arch Neurol 51:645-46, 1994

Kaufmann P, Lomen-Hoerth C. ALS treatment strikes out while trying for a homer. The topiramate trial. Neurology 2003;61:434-435 (editorial)

Kaufmann P. The gene encoding alsin is mutated in an autosomal recessive form of amyotrophic lateral sclerosis. Review/Summary for “Current Neurology”, 2002

Kaufmann P. Oculopharyngeal muscular dystrophy. Palm edition of Neurological Therapeutics, 2003

Kaufmann P. Duchenne muscular dystrophy. Palm edition of Neurological Therapeutics, 2003

Kaufmann P. McArdle’s disease. Palm edition of Neurological Therapeutics, 2003

Kaufmann P. The tibial nerve. Encyclopedia of Neuroscience, 2003

Kaufmann P. The tarsal tunnel syndrome. Encyclopedia of Neuroscience, 2003

Kaufmann P. Dystrophin and dystrophin-associated proteins. Encyclopedia of Neuroscience, 2003

Kaufmann P., Weimer L, Rowland LP. Muscular dystrophies. Merritt’s Textbook of Neurology, 11th edition, 2004

Sosinsky M, Kaufmann P. Myasthenia gravis and related disorders. Current Diagnosis and Treatment, Neurology. Lange, 2006

Gooch CL, Pullman SL, Kaufmann P. Objective markers of motor neuron disease. ALS. Mitsumoto H, DelBene ML, Gordon PH, eds., 2005

Kaufmann P. Pharmacotherapy in clinical trials. Objective markers of motor neuron disease. ALS. Mitsumoto H, DelBene ML, Gordon PH, eds., 2005

Mitsumoto H, Gordon PH, Kaufmann P, Gooch CL, Przedborski S, Rowland LP. Randomized, controlled trials in ALS: Lessons learned. ALS and other motor neuron disorders. Vol 5, Suppl 1, 8-13 (2004)

Di Mauro S, Hirano M, Kaufmann P, Mitochondrial psychiatry, DiMauro S, Hirano M, Schon E, eds. Mitochondrial Medicine, 2006

Hays AP, Oskoui M, Tanji K, Kaufmann P, Bonilla E. Mitochondrial neurology II – myopathies and peripheral neuropathies, DiMauro S, Hirano M, Schon E, eds. Mitochondrial Medicine, 2006.

Mitsumoto H, Floyd A, Tang MX, Kaufmann P, Battista V, Hristova A, Pullman SL. Transcranial magnetic stimulation for upper motor neuron involvement in amyotrophic lateral sclerosis (ALS). Suppl Clin Neurophysiol. 2006;59:327-332.

Levin BJ, Thompson G, Mitsumoto LH, Kaufmann P. Pentoxifylline in ALS: a double-blind, randomized, multicenter, placebo-controlled trial. [letter] Neurology. 2006;66:1786-1787.

Kaufmann P, Finkel R. Learning to walk. Challenges for spinal muscular atrophy clinical trials. Neurology 2007; 68:11-12 [editorial].

Kaufmann P, Mitsumoto H; ALSRG Database Task Force Steering Committee; ALSRG Members. ALS Research Group (ALSRG): second meeting, a summary report.
Amyotroph Lateral Scler. 2006;7:252-255.

Kaufmann P, Finkel R. Learning to walk: challenges for spinal muscular atrophy clinical trials. Neurology. 2007;68:11-12.

Mitsumoto H, Floyd A, Tang MX, Kaufmann P, Battista V, Hristova A, Pullman SL. Transcranial magnetic stimulation for upper motor neuron involvement in amyotrophic lateral sclerosis (ALS). Suppl Clin Neurophysiol. 2006;59:327-332.

Kaufmann P, Muntoni F. The International Clinical Trial Coordination Committee for SMA, Subcommittee on Clinical Trial Design, Neuromuscular Disorders, 2007;17:499-505

Louis ED, Broussolle E, Goetz CG, Kaufmann P, Mazzoni P. Historical Underpinnings of the Term “Essential Tremor” in the Late Nineteenth Century, World Neurology. (in press)

Kaufmann P, Iannaccone S. Clinical trials in spinal muscular atrophy. Phys Med and Rehab Clinics of North America 2008;3:653-660

Sproule D, Kaufmann P. Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS): A review of basic concepts, the clinical phenotype and therapeutic Management. Ann of the NY Academy of Sciences 2008;1142 ; 133 (in press)

Oskoui M, Kaufmann P. Clinical trials for spinal muscular atrophy. Neurotherapeutics 2008 (in press)

PUBLISHED ABSTRACTS

Kaufmann P, Bauer J, Klingmueller D, Elger CE. Postictal serum prolactin levels:can they help to distinguish between temporal and frontal lobe seizures? Epilepsia 1993: 34, Suppl 2

Kaufmann P, Bauer J, Klingmueller D, Elger CE. Postictal prolactin response in isolated seizures, repetitive seizures and status epilepticus: a comparative analysis. Epilepsia 1993:34, Suppl 2

Kaufmann P, Koga Y, Hirano M, King M, DiMauro S, Schon EA. The mitochondrial tRNA Leu(UUR) mutation is associated with mitochondrial proliferation and abnormal processing in tissues from MELAS patients. Ann Neurol 1994:36:317

Kaufmann P, Koga Y, Hirano M, King M, DiMauro S, Schon EA. An unprocessed polycistronic transcript is elevated in tissues from MELAS patients harboring a mtDNA mutation at nt3242 in tRNALeu (UUR). Muscle & Nerve 1994: Suppl 1

Kaufmann P, Tsujino S, Shanske S, Taroni F, DiDonato S, DiMauro S. Genetic characterization of American patients with CPT II deficiency. Neurology1995:45, Suppl4

Hirano M, Mojon D, Lincoff NS, Marquez-Fernandez M, Santiesteban R, Santiago-Luis R, Fuentes-Pelier D, Isla Garcis A, Cleary JM, Stewart AM, Kaufmann P, Odel JG. Clinical features of 20 Cuban epidemic optic and peripheral neuropathy patients. Neurology 1995:45, Suppl 4

Kaufmann P, Louis ED. The Scientific Backgrounds of Erb and Westphal:Implications for the early interpretation of the reflex phenomenon. Neurology 1995:46, Suppl 2 A353

Louis ED, Kaufmann P. Wilhelm Erb, Carl Westphal and the Nineteenth-Century Neurophysiology:The conceptual basis for the discovery of the reflexes. Neurology 1995:46, Suppl 2, A413

Louis ED, Lynch T, Kaufmann P, Fahn S, Odel J. Diagnostic guidelines in central nervous system Whipple’s disease. Ann Neurol 1996:40, 537A

Kaufmann P, O’Connell S, Kulikowa R, El-Schahawi M, DiMauro S. A novel amino acid substitution in a patient with CPT II deficiency. Neurology 1997, Suppl 2

Kaufmann P, Shungu D, Sano MC, Polanco Y, Milar WS, Stacpoole PW, DiMauro S, De Vivo DC. Cerebral lactic acidosis and neuropsychological impairment in mitochondrial encephalomyopathies. Neurology, 1999:52, Suppl 2, A355

Barnes LF, Louis ED, Ford B, Sangiorgio M, Tabbal S, Lewis L, Kaufmann P, Moskowitz C. A teaching videotape for the assessment of essential tremor, Neurology, 2000, Suppl 3

Trojaborg W, Kaufmann P, Gooch CL. Statistical MUNE in the elbow flexor muscles: Techniques and normative data. Muscle & Nerve 2000:23, 1635

Trojaborg W, Kaufmann P, Gooch CL. Statistical motor unit number estimating in a larger muscle: normative data and reproducibility studies. Muscle & Nerve 2000:23, 1635

Kaufmann P, Sano MC, Shungu DC, Mao X, Kwan A, Shanske S, DiMauro S, De Vivo DC. Cerebral lactic acidosis correlates with neurological impairment in MELAS. Neurology 56, A59 (Suppl.), 2001

Lindenbaum Y, Kaufmann P, Shungu DC, Pullman SL, Chan S, Rowland LP, Mitsumoto H. Magnetic resonance spectroscopy and transcranial magnetic stimulation in the evaluation of upper motor neuron involvement in ALS. Neurology 56, A155 (Suppl.), 2001

Rafay MF, Murphy EG, Kaufmann P, McGarry JD, DiMauro S, Tein I. Manifesting heterozygosity in a family with carnitine palmitoyltransferase (CPT) II deficiency due to the serine113leucine mutation. J Child Neur, 2001

Shungu DC, Sano MC, Millar WS, Kaufmann P, Mao X, Kwan A, DiMauro S, De Vivo DC. Comparison of regional cerebral metabolite profiles in two mitochondrial encephalomyopathies, MELAS and MERRF, using 1H MRSI. Proc. Intl. Soc. Magn. Reson. Med. 2001; 1; 578

Kaufmann P, Shungu DC, Pullman SL, Chan S, Vu T, Rowland LP, Mitsumoto H. Magnetic resonance spectroscopy and transcranial magnetic stimulation in the evaluation of upper motor neuron involvement in ALS. Amyotrophic Lateral Sclerosis and other motor neuron disorders.2001; 2, Suppl 2: 118.

Gooch CL, Pleitez M, Ciabarra A, Kaufmann P, Harati Y. Motor unit number survival in a controlled trial of xaliproden, with and without riluzole, for the treatment of ALS. Amyotrophic Lateral Sclerosis and other motor neuron disorders. 2001; Suppl 2: 148.

Kaufmann P, Sano MC, Jhung S, Engelstad K, De Vivo DC. Psychiatric symptoms are common features of clinical syndromes associated with mitochondrial DNA point mutations. Neurology 2002; 58:A315

Shungu DC, Kaufmann P, Engelstad K, Regus J, Jhung S, Millar WS, Sano M, DiMauro S, De Vivo DC. Comparison of in vitro and in vivo CSF lactate in A3243G MELAS patients: A viable method for absolute quantitation of CSF lactate by 1H MRSI. Proc. Intl. Soc. Magn. Reson. Med. 10: 695, 2002

Shanske S, Pancrudo J, Engelstad K, ,Jhung S, Kaufmann P, Lu J, Naini A, DiMauro S, De Vivo DC. Study of mitochondrial DNA heteroplasmy in multiple tissues. Neurology 2003, Suppl

Kaufmann P, Pullman SL, Shungu DC, Chan S, Hays AP, Del Bene ML, Dover MA, Vukic M, Rowland LP, Mitsumoto H. Objective tests for upper motor neuron involvement in amyotrophic lateral sclerosis (ALS). ALS and Other Motor Neuron Disorders 4 (Suppl 1);57, 2003

Mitsumoto H, Shungu DC, Aziz U, Pullman SL, Gooch CL, Chan S, Tant MX, Mao X, Dashnaw S, Gaspard G, Garcia J, Del Bene M, Battista V, Gad N, Montes J, Hays S, Albert S, Hirsch J, Hays AP, Kaufmann P, Gordon PH, Beal MF, Rowland LP. Objective upper motor neuron (UMN) and lower motor neuron (LMN) markers of amyotrophic lateral sclerosis (ALS). Neurology 62 (Suppl 5); A278,P04.005, 2004

Kaufmann P, Albert SM, Mitsumoto H. Longitudinal analysis of hospitalizations in amyotrophic lateral sclerosis 1996-2002. ALS and Other Motor Neuron Disorders 5 (Suppl 2), 137, 2004

Moore DH, Miller RG, The Western ALS Group, Kaufmann P, Mitsumoto H, Cudkowicz M, Schoenfeld D, The Northeastern ALS Group, Anderson F, Huang W, the ALS CARE Study Group. Development and validation of a staging system for ALS. ALS and Other Motor Neuron Disorders 5 (Suppl 2), 116, 2004

Gordon PH, Pinto M, Mitsumoto H, Kaufmann P, Rowland LP. The clinical manifestations of primary lateral sclerosis. ALS and Other Motor Neuron Disorders 5 (Suppl 2), 112, 2004

Mitsumoto H, Shungu DC, Ulug A, Pullman SL, Gooch C, Chans S, Tang M-X, Mao X, Dashnaw S, Kostov K, Garcia J, Del Bene M, Battista V, Gad N, Montes J, Hayes S, Albert S, Hirsch J, Hays AP, Kaufmann P, Gordon PH, Beal MF, Rowland LP. Objective upper motor neuron (UMN) and lower motor neuron (LMN) markers of amyotrophic lateral sclerosis (ALS). ALS and Other Motor Neuron Disorders 5 (Suppl 2), 34, 2004

Gordon PH, Katz IB, Pinto M, Kaufmann P, Mitsumoto H, Rowland LP. The natural history of primary lateral sclerosis. Neurology 64 (Suppl 1);A206, P03.166, 2005

Kaufmann P, Engelstad KM, Sano MC, Jhung S, Shungu DC, Millar WM, Gooch CL, Mao X, Pascual JM, Hirano M, Tein I, Cederbaum S, Stacpoole PW, DiMauro S, De Vivo DC. Dichloroacetate as a treatment for MELAS: Toxicity overshadows potential benefit. Neurology 64 (Suppl 1);A71,P01.148, 2005

Gordon PH, Doorish C, Montes J, Diamond BE, Mosley RL, Gendelman HE, Weimer LH, Macarthur RB, Albert S, Kaufmann P, Rowland LP, Przedborski S, Mitsumoto H. Randomized controlled phase II trial of glatiramer acetate (copaxone) in amyotrophic lateral sclerosis. ALS and Other Motor Neuron Disorders 6, Supplement 1, C12, 14

Mitsumoto H, Hillyer G, Andrews H, Thankachan A, Cruz L, Andrews L, Kaufmann P, Gordon P, Facto-Litvac P, Ottman R. Structured interview for genetic and environmental risk factors in ALS and its test-retest reliability evaluation. ALS and Other Motor Neuron Disorders 6, Supplement 1, C80, 56

Kaufmann P, Barsdorf AI, Albert SM, Mitsumoto H. Characteristics of hospilatizations in amyotrophic lateral scleoris between 2000 and 2002 based on a US nationwide sample. ALS and Other Motor Neuron Disorders 6, Supplement 1, C172, 158

Kaufmann P, Rascoll JM, Glanzman AM, Riley S, Quigley J, Flickinger J, Ryan P, McDermott M, Finkel R, Darras B, Sanborn E, Murphy L, De Vivo DC. Expanded motor function measure permits the evaluation of ambulatory spinal muscular atrophy patients. 10th Annual International Spinal Muscular Atrophy Research Group Meeting, Montreal June 10-12, 2006

Oskoui M, Levy G, Garland CJ, Gray JM, O’Hagen J, De Vivo D, Kaufmann P. The changing natural history of spinal muscular atrophy type 1. 11th Annual International Spinal Muscular Atrophy Research Group Meeting, Schaumburg, IL, June 21-23, 2007

Kaufmann P, Finkel R, Daras B, Tawil R, McDermott M, De Vivo DC for the PNCR Network. The Natural History of Spinal Muscular Atrophy. Neuromuscular Disorders 2007;17:776-777

Kaufmann P, Engelstad K, Ying W, Battista V, Koenigsberger D, Oskoui M, Kulikova R, Pascual JM, Sano MC, Hinton V, DiMauro S, De Vivo DC. The phenotypic spectrum associated with the mitochondrial DNA A3243G point mutation, American Neurological Association, 132 Annual Meeting, Washington DC, October 7-10, 2007

Glanzman AM, O’Hagen JM, McDemrott MP, Martens WF, Ryan PA, Flickinger JF, Qugley J, Riley S, Montes J, Chung WK, Deng L, Darras BT, De Vivo DC, Kaufmann P, Finkel R. Validation of the expanded Hammersmith functional motor scale in SMA type II and III. Neuromuscular Disorders 2008, 19, 741

Buchsbaum R, Montes J, Thompson JLP, Kaufmann P. Interactive, web-based system facilitates multi-center clinical research operations. Neuromuscular Disorders 2008;18: 79