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-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 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 and 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 and 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
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 Hum Genetics 2004, in press
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
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 2004, in press
Kaufmann P , :Levy G, Thompson JLP, DelBene ML, Gordon P, Levin B, Mitsumoto H. ALSFRSr predicts survival time in an ALS clinic population. Neurology, in press
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 Hum Genetics 2004, in press
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 (in press)
Sosinsky M, Kaufmann P. Myasthenia gravis and related disorders. Current Diagnosis and Treatment, Neurology. Lange, in press
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)
