PUBLICATIONS
ORIGINAL ARTICLES
Bauer J, Kaufmann P, Klingmueller D, Elger CE. Serum prolactin response to repetitive
epileptic seizures. J Neurol 241:242-45, 1994
Kaufmann P, Koga Y, Shanske S, Hirano M, DiMauro S, King MP, Schon EA.
Mitochondrial DNA and RNA processing in MELAS. Ann Neurol 40:172-80, 1996
Louis ED, Kaufmann P. Erbs’s explanation for the tendon reflexes. Links between
science and the clinic. Arch Neurol 53:1187-89, 1996
Louis ED, Lynch T, Kaufmann P, Fahn S, Odel J. Diagnostic guidelines in central
nervous system Whipple’s disease., Ann Neurol 40:561-68, 1996
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 16:355-60, 1996
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 48:19-22, 1997
Kaufmann P, El-Schahawi M, DiMauro S. Carnitine palmitoyltransferase II deficiency:
Diagnosis by molecular analysis of blood. Mol Cell Biochem 174:237-39, 1997
Louis ED, Lynch T, Kaufmann P, Fahn S and Odel J. Three cases of central nervous
system Whipple’s Disease. Review Series Dementia 2:20-22, 1998
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,
20:29-32, 2001
Sulica L, Blitzer A, Lovelace RE, Kaufmann P. Vocal fold paresis of Charcot-MarieTooth 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 16:89-93, 2001
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;130A: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, Mar;62(3):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 Aug;32(3):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;229-230:187-93
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; 14;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(5):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
66(7):1117-9, 2006
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(5):746-8
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
Kaufmann P, Finkel, R. Learning to walk: challenges for spinal muscular atrophy
clinical trials. Neurology. 2007;68(1):11-2.
Kaufmann P, Levy G, Montes J, Buchsbaum R, Barsdorf AI, Battsita 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(1): 42-6.
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;67:1294-6
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, chapter 12 in:
Mitochondrial Medicine. DiMauro S, Hirano M, Schon E, eds., 2006
Hays AP, Oskoui M, Tanji K, Kaufmann P, Bonilla E. Mitochondrial Neurology II –
Myopathies and Peripheral Neuropathies, chapter 3 in: Mitochondrial Medicine.
DiMauro S, Hirano M, Schon E, eds., 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;59:327-32.
Levin BJ, Thompson G, Mitsumoto LH, Kaufmann P. Pentoxifylline in ALS: a doubleblind, randomized, multicenter, placebo-controlled trial. [letter] Neurology.
2006;66:1786-7
Kaufmann P, Finkel R. Learning to walk. Challenges for spinal muscular atrophy
clinical trials. Neurology, in press [editorial].
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, repetetive 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; Vol. 1, p 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.Vol 2, Suppl 2: 118, 2001
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.Vol 2, Suppl 2: 148,
2001
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.
Randomiezed 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 fctors 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 hospilatizatoins
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, Glanman 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