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John Kamholz, MD, PhD

Portrait
Professor of Neurology
Professor of Psychiatry

Contact Information

Office
200 Hawkins Dr.
Iowa City, IA 52242
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Education

BA, Physics, University of Pennsylvania
MD, Medicine, University of Pennsylvania
PhD, Genetics, University of Pennsylvania
Resident, Neurology, Hospital of the University of Pennsylvania
Fellow, Molecular Genetics, Hospital of the University of Pennsylvania

Publications

Schultz, J. L., Killoran, A., Nopoulos, P. C., Chabal, C. C., Moser, D. J. & Kamholz, J. A. (2018). Evaluating depression and suicidality in tetrabenazine users with Huntington disease. Neurology. PMID: 29925548.

Rudroff, T., Proessl, f., Kamholz, J. & Ponto, L. (2018). Increased thalamic activity and less neuropathic pain after tDCS observed with PIT in a patient with multiple sclerosis: A case report.

Schultz, J., Nopoulos, p., Killoran, A. & Kahmolz, J. (2018). Delayed disease onset with atorvastatin use in Huntington disease.

Schultz, J., Nopoulos, P., Moser, D., Killoran, K., Paulsen, J. & Kamholz, J. (2018). the PREDICT-HD Investigators and Coordinators of the Huntington Study Group.

Schultz, J., Kamholz, J., Napoulos, P. & Killoran, A. (2018). Comparing risperidone and olanzapine to tetrabenazine for the management of chorea in Huntington disease.

Somayajulu, M., Huttermann, D. A., Sohi, J., Kahmolz, J. & Skoff, R. (2018). Insertion of proteolipid protein into mitochondria but not DM20 regulates metabolism of cells.

Schultz, J., Killoran, A., Napoulos, P. C., Chabal, C. C., Moser, D. J. & Kamholz, J. (2018). Evaluating depression and suicidality in tetrabenazine users with Huntington disease.

Sanderson, T. H., Wider, J. M., Icksoo, L., Reynolds, C. A., Liu, J., Lepore, B., Tousignant, R., Bukowski, M. J., Johnston, H., Fite, A., Raghunayakula, S., Kamholz, J., Grossman, L. I., Przyklenk, K. & Huttemann, M. (2018). Inhibitory modulation of cytochrome c oxidase activity with specific near-infrared light wavelengths attenuates brain ischemia/reperfusion injury.

Sharma, K., Kamholz, J. & Leira, E. (2018). Spinal cord infarction presenting as a hemicord syndrome: Report of two cases. Journal of Stroke and Cerebrovascular Diseases.

Sushmita, S., Borcherding, N., Renavikar, P. S., Crawford, M. P., Tsalikian, E., Tansey, M., Shivapour, E. T., Bittner, F., Kamholz, J., Olalde, H., Gibson, E. & Karandikar, N. J. (2018). Autoimmune disease risk SNP rs2281808 in Sirp? is associated with heightened effector state and greater cytotoxic potential in human CD8 T-cells.

Aras, S., Arrabi, H., Purandare, N., Hüttemann, M., Kamholz, J., Züchner, S. & Grossman, L. I. (2017). Abl2 kinase phosphorylates Bi-organellar regulator MNRR1 in mitochondria, stimulating respiration. Biochimica Et Biophysica Acta, 1864(2), 440–448. PMID: 27913209.

Schultz, J., Kamholz, J., Moser, D., Feely, S., Paulsen, J. & Nopoulos, P. (2017). Substance abuse may hasten motor onset of Huntington disease: Evaluating the Enroll-HD database. Neurology, 88(9), 909–915. PMID: 28148631.

Kingah, P., Alam, M., Chugh, K., Kamholz, J. & Samavati, L. (2016). Role of Pulmonary Evaluation in Diagnosis of Neurosarcoidosis. Sarcoidosis, vasculitis, and diffuse lung diseases: official journal of WASOG, 33(3), 209–215. PMID: 27758985.

Schultz, J., Weber, C. & Kamholz, J. (2016). Letter to the Editor: The Emerging Role of Pharmacists in the Multidisciplinary Care of Patients with Multiple Sclerosis. (Vols. 18). (5), pp. 219-220. International Journal of MS Care. PMID: 27803636.

Laukka, J. J., Kamholz, J., Bessert, D. & Skoff, R. P. (2016). Novel pathologic findings in patients with Pelizaeus-Merzbacher disease. Neuroscience Letters, 627, 222–232. PMID: 27222925.

Jerath, N. U., Kamholz, J., Grider, T., Harper, A., Swenson, A. & Shy, M. E. (2015). Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion. Muscle & Nerve, 52(5), 905–908. PMID: 26012543.

Jerath, N. U., Kamholz, J., Grider, T., Harper, A., Swenson, A. & Shy, M. E. (2015). COEXISTENCE OF A T118M PMP22 MISSENSE MUTATION AND CHROMOSOME 17 (17P11.2-P12) DELETION. Journal of the Peripheral Nervous System, 20(2), 163–164.

Aras, S., Arrabi, H., Punandare, N., Züchner, S., Kamholz, J., Hüttemann, M. & Grossman, L. I. (2015). CX9C proteins: Stress-responsive IMS regulators and disease modifiers. Mitochondrion, 24((Aras S.; Arrabi H.; Punandare N.; Hüttemann M.; Grossman L.I.) Center for Molecular Medicine and Genetics, Wayne State Unive), S23–S24. DOI: 10.1016/j.mito.2015.07.069.

Laukka, J. J., Makki, M. I., Lafleur, T., Stanley, J., Kamholz, J. & Garbern, J. Y. (2014). Diffusion tensor imaging of patients with proteolipid protein 1 gene mutations. Journal of Neuroscience Research, 92(12), 1723–1732. PMID: 25156430.

Parikh, S., Goldstein, A., Koenig, M. K., Scaglia, F., Enns, G. M., Saneto, R., Mitochondrial Medicine Society Clinical Directors Working Group,, MMS Clinical Director’s Work Group,, Anselm, I., Collins, A., Cohen, B. H., DeBrosse, S. D., Dimmock, D., Falk, M. J., Ganesh, J., Greene, C., Gropman, A. L., Haas, R., Kahler, S. G., Kamholz, J., Kendall, F., Korson, M. S., Mattman, A., Milone, M., Niyazov, D., Pearl, P. L., Reimschisel, T., Salvarinova-Zivkovic, R., Sims, K., Tarnopolsky, M., Tsao, C., van Hove, J., Walsh, L. & Wolfe, L. A. (2014). Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion, 14(1), 26–33. PMID: 23891656.

Nleya, L., Aichholz, R., Délémonté, T., Müller, I., Kamholz, J., Oberer, L. & Lochmann, T. (2014). Isolation of major metabolites from an in-vivo nibco dog model for structural elucidation by NMR spectroscopy. Basic and Clinical Pharmacology and Toxicology, 115((Nleya L.; Aichholz R.; Délémonté T.; Müller I.; Kamholz J.; Oberer L.; Lochmann T.)), 167.

Laukka, J. J., Stanley, J. A., Garbern, J. Y., Trepanier, A., Hobson, G., Lafleur, T., Gow, A. & Kamholz, J. (2013). Neuroradiologic correlates of clinical disability and progression in the X-linked leukodystrophy Pelizaeus-Merzbacher disease. Journal of the Neurological Sciences, 335(1-2), 75–81. PMID: 24139698.

Parikh, S., Goldstein, A., Koenig, M. K., Scaglia, F., Enns, G. M. & Saneto, R. (2013). Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management. Mitochondrion, 13(6), 681-7. PMID: 24063850.

LaFleur, T., Kamholz, J., Makki, M., Trepanier, A., Gow, A., Fuerst, D., Garbern, J. & Laukka, J. (2013). Radial Diffusion Is Increased in Patients with Pelizaeus-Merzbacher Disease. Neurology, 80.

Patzkó, A., Bai, Y., Saporta, M. A., Katona, I., Wu, X., Vizzuso, D., Feltri, M. L., Wang, S., Dillon, L. M., Kamholz, J., Kirschner, D., Sarkar, F. H., Wrabetz, L. & Shy, M. E. (2012). Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice. Brain: A Journal of Neurology, 135(Pt 12), 3551–3566. PMID: 23250879.

Daffu, G., Sohi, J. & Kamholz, J. (2012). Proteolipid protein dimerization at cysteine 108: Implications for protein structure. Neuroscience Research, 74(2), 144-155. PMID: 22902553.

Liu, Z., Wang, Y., Yedidi, R. S., Brunzelle, J. S., Kovari, I. A., Sohi, J., Kamholz, J. & Kovari, L. C. (2012). Crystal structure of the extracellular domain of human myelin protein zero. Proteins, 80(1), 307–313. PMID: 21971831.

Laukka, J., Lovell, K., Sima, A., Robert, S. & Kamholz, J. (2012). Neuropathologic insights into the X-linked leukodystrophy pelizaeus-merzbacher disease. Journal of Neuropathology and Experimental Neurology, 71(6), 559. DOI: 10.1097/NEN.0b013e318299610e.

Laukka, J., Kamholz, J. (2012). Pelizaeus-merzbacher disease: White matter atrophy correlates to clinical disability. Pediatric Radiology, 42((Kamholz J.)), S275–S276. DOI: 10.1007/s00247-012-2356-8.

Khan, O., Bao, F., Shah, M., Hreha, S., Zak, I., Tselis, A., Kamholz, J. & Lisak, R. (2011). SWI based iron quantification does not correlate with deep grey-matter injury in MS: Results of a pilot longitudinal study in RRMS. Multiple Sclerosis, 17(10), S386. DOI: 10.1177/1352458511422301.

Patzko, A., Wu, X., Bai, Y., Dillon, L., Kamholz, J. & Shy, M. E. (2010). Myelin thickness in the heterozygous R98C knock-in mouse model of CMT1B does not respond to neuregulin I type III overexpression. Journal of the Peripheral Nervous System, 15(3), 275. DOI: 10.1111/j.1529-8027.2010.00277.x.

Kamholz, J., Brucal, M., Chalasani, A., Liu, Z. & Kovari, L. (2009). BIOCHEMICAL ANALYSIS OF THE H10P MUTATION IN HUMAN MYELIN PROTEIN ZERO. Journal of the Peripheral Nervous System, 14, 70–70.

Kamholz, J., Brucal, M., Siskind, C. E., Shy, M. E., Liu, Z. & Kovari, L. (2009). MUTATION IN ARGININE 98 IN HUMAN MYELIN PROTEIN ZERO CAN CAUSE EITHER LATE OR EARLY ONSET DEMYELINATING NEUROPATHY. Journal of the Peripheral Nervous System, 14, 70–71.

Kamholz, J. (2009). Predicting the unpredictable. Annals of Neurology, 65(4), 480-480. DOI: 10.1002/ana.21650.

Pankonin, M. S., Sohi, J., Kamholz, J. & Loeb, J. A. (2009). Differential distribution of neuregulin in human brain and spinal fluid. Brain Research, 1258, 1–11. PMID: 19150438.

Grandis, M., Vigo, T., Passalacqua, M., Jain, M., Scazzola, S., La Padula, V., Brucal, M., Benvenuto, F., Nobbio, L., Cadoni, A., Mancardi, G. L., Kamholz, J., Shy, M. E. & Schenone, A. (2008). Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. Human Molecular Genetics, 17(13), 1877–1889. PMID: 18337304.

Daffu, G. K., Sohi, J. K. & Kamholz, J. A. (2007). Functional and structural characterization of proteolipid protein oligomers. Journal of Neurochemistry, 102, 66–66.

Grandis, M., Vigo, T., Jain, M., La Padula, V., Scazzola, S., Passalacqua, M., Benvenuto, F., Kamholz, J., Shy, M. E. & Schenone, A. (2007). Cellular and molecular differences between early and late onset myelin protein zero mutations. Journal of the Peripheral Nervous System, 12, 34–35.

Brucal, M. J., Chalasani, A., Shy, M. E. & Kamholz, J. (2007). CMT1B-causing myelin protein zero mutations result in diverse intracellular pathomechanisms. Journal of the Peripheral Nervous System, 12, 12–12.

Gaboreanu, A., Hrstka, R., Xu, W., Shy, M., Kamholz, J., Lilien, J. & Balsamo, J. (2007). Myelin protein zero/P0 phosphorylation and function require an adaptor protein linking it to RACK1 and PKC alpha. The Journal of Cell Biology, 177(4), 707–716. PMID: 17502419.

Shy, M. E., Kamholz, J. & Li, J. (2007). Mutations in Schwann cell genes causing inherited neuropathies. Biology of Schwann Cells: Development, Differentiation and Immunomodulation, 126–157. DOI: 10.1017/CBO9780511541605.009.

Sabet, A., Li, J., Ghandour, K., Pu, Q., Wu, X., Kamholz, J., Shy, M. E. & Cambi, F. (2006). Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie- Tooth neuropathy 1B. Neurology, 67(7), 1141–1146. PMID: 17030746.

Grandis, M., Vigo, T., Cadoni, A., La Padula, V., Mancardi, G. L., Kamholz, J., Shy, M. E. & Schenone, A. (2006). Pathogenic mechanisms in MPZ mutations. Journal of the Peripheral Nervous System, 11(2), 190–190.

Ianakova, E., Lewis, R. A., Acsadi, G., Anguelov, R., Kamholz, J. & Shy, M. E. (2006). AAV-GDNF improves neuropathy in Mpz -/- mice. Neurology, 66(5), 276–276.

Brucal, M. J., Kamholz, J. (2006). Investigating the link between myelin protein zero-mediated adhesion and disease severity in charcot marie tooth disease type 1B. Journal of Neurochemistry, 96, 125–125.

Daffu, G. K., Kamholz, J. (2006). Proteolipid protein interacts with itself to form multimers. Journal of Neurochemistry, 96, 53–53.

Shy, M. E., Scavina, M. T., Clark, A., Krajewski, K. M., Li, J., Kamholz, J., Kolodny, E., Szigeti, K., Fischer, R. A., Saifi, G. M., Scherer, S. S. & Lupski, J. R. (2006). T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. Annals of Neurology, 59(2), 358–364. PMID: 16437560.

Woodward, K. J., Cundall, M., Sperle, K., Sistermans, E. A., Ross, M., Howell, G., Gribble, S. M., Burford, D. C., Carter, N. P., Hobson, D. L., Garbern, J. Y., Kamholz, J., Heng, H., Hodes, M. E., Malcolm, S. & Hobson, G. M. (2005). Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination. American Journal of Human Genetics, 77(6), 966–987. PMID: 16380909.

Ianakova, E., Anguelov, R. A., Lewis, R. A., Kamholz, J. & Shy, M. E. (2005). AAV-GDNF treatment of Mpz -/- mice. Neurology, 64(6), A6–A6.

Kamholz, J. A., Garbern, J. Y. (2005). Neuronal cell injury precedes brain atrophy in multiple sclerosis. Neurology, 64(1), 176; author reply 176. PMID: 15642939.

Hristova, D., Kamholz, J. & Garbern, J. (2005). Aspartoacylase is expressed predominantly in oligodendrocytes and is decreased in MS plaques. Multiple Sclerosis, 11(1), 122–122.

Sabet, A., Li, J., Ghandour, K., Pu, Q., Wu, X. Y., Kamholz, J., Shy, M. & Cambi, F. (2005). Novel MPZ mutation at splice site in a family with hereditary neuropathy. Annals of Neurology, 58, S32–S32.

Laukka, J., Kamholz, J. & Garbern, J. (2005). White matter atrophy correlates with clinical disability in patients with Pelizaeus-Merbacher disease. Multiple Sclerosis, 11(1), 108–109.

Southwood, C., He, C., Garbern, J., Kamholz, J., Arroyo, E. & Gow, A. (2004). CNS myelin paranodes require Nkx6-2 homeoprotein transcriptional activity for normal structure. The Journal of Neuroscience: The Official Journal of the Society for Neuroscience, 24(50), 11215–11225. PMID: 15601927.

Kamholz, J., Shy, M. E. (2004). Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene. Neurology, 63(1), 194; author reply 194. PMID: 15249646.

Garbern, J. Y., Krajewski, K., Hobson, G., Li, J., Lewis, R., Kamholz, J. & Shy, M. (2004). The proteolipid protein-specific region of PLP is necessary for normal peripheral nerve function. Neurology, 62(7), A418–A418.

Shy, M. E., Jáni, A., Krajewski, K., Grandis, M., Lewis, R. A., Li, J., Shy, R. R., Balsamo, J., Lilien, J., Garbern, J. Y. & Kamholz, J. (2004). Phenotypic clustering in MPZ mutations. Brain: A Journal of Neurology, 127(Pt 2), 371–384. PMID: 14711881.

Huang, Y., Rangwala, F., Fulkerson, P. C., Ling, B., Reed, E., Cox, A. D., Kamholz, J. & Ratner, N. (2004). Role of TC21/R-Ras2 in enhanced migration of neurofibromin-deficient Schwann cells. Oncogene, 23(2), 368–378. PMID: 14724565.

Hobson, G., Cundall, M., Sperle, K., Kamholz, J., Garbern, J., Heng, H., Sistermans, E., Malcolm, S. & Woodward, K. (2003). Fine mapping of duplication endpoints in Pelizaeus-Merzbacher disease. American Journal of Human Genetics, 73(5), 342–342.

Gow, A., Southwood, C., Arroyo, E., Garbern, J., Kamholz, J. & Scherer, S. (2003). The Nkx6-2 homeoprotein regulates assembly of heterotypic cell adhesion junctions in CNS. Journal of Neurochemistry, 85, 26–26.

Shy, M. E., Hobson, G., Jain, M., Boespflug-Tanguy, O., Garbern, J., Sperle, K., Li, W., Gow, A., Rodriguez, D., Bertini, E., Mancias, P., Krajewski, K., Lewis, R. & Kamholz, J. (2003). Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy. Annals of Neurology, 53(3), 354–365. PMID: 12601703.

Paulson, H. L., Garbern, J. Y., Hoban, T. F., Krajewski, K. M., Lewis, R. A., Fischbeck, K. H., Grossman, R. I., Lenkinski, R., Kamholz, J. A. & Shy, M. E. (2002). Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. Annals of Neurology, 52(4), 429–434. PMID: 12325071.

Uhler, J., Garbern, J., Yang, L., Kamholz, J. & Mellerick, D. M. (2002). Nk6, a novel Drosophila homeobox gene regulated by vnd. Mechanisms of Development, 116(1-2), 105–116. PMID: 12128210.

Acsadi, A. J., Krajewski, K. M., Lewis, R. A., Li, J., Garbern, J. Y., Kamholz, J., Shy, M. E., Lilien, J. & Balsamo, J. (2002). Disease severity and MPZ mediated adhesion in CMT1B. Journal of the Neurological Sciences, 199, S112–S112.

Zhou, L., Lewis, R. A., Li, J., Garbern, J. Y., Kamholz, J., Shy, M. E. & Krajewski, K. M. (2002). Longitudinal study of patients with CMT1A. Journal of the Neurological Sciences, 199, S64–S64.

Shy, M. E., Krajewski, K. M., Garbern, J. Y., Kamholz, J., Lewis, R. A., Hoban, T. F., Fishbeck, K. H., Grossman, R. I. & Paulson, H. L. (2002). Transient CNS white matter abnormalities in X-linked Charcot Marie Tooth disease. Journal of the Neurological Sciences, 199, S63–S63.

Shy, M. E., Garbern, J. Y., Jan, M., Li, W., Gow, A., Krajewski, K. M., Lewis, R. A., Kamholz, J., Hobson, G., Sprenkle, K., Mancias, P., Boespflug-Tanguy, O., Rodriguez, D. & Pertini, E. (2002). Truncation of 35 PLP specific amino acids causes demyelinating peripheral neuropathies in patients with Pelizaeus-Merzbacher disease. Journal of the Neurological Sciences, 199, S119–S119.

Krajewski, K. A., Lewis, R. A., Li, J., Garbern, J., Kamholz, J. & Shy, M. E. (2002). Women with CMTX. Journal of the Neurological Sciences, 199, S90–S90.

Shy, M. E., Garbern, J. Y. & Kamholz, J. (2002). Hereditary motor and sensory neuropathies: a biological perspective. The Lancet. Neurology, 1(2), 110–118. PMID: 12849515.

Gow, A., Southwood, C. M., Scherer, S., Garbern, J. & Kamholz, J. (2002). The NKX6-2 homeoprotein regulates assembly of heterotypic cell adhesion junctions in the CNS. Journal of Neurochemistry, 81, 17–17.

Southwood, C. M., Scherer, S., Garbern, J., Kamholz, J. & Gow, A. (2002). The NKx6-2 homeoprotein regulates assembly of heterotypic cell adhesion junctions in the CNS. Glia, S68–S68.

Acsadi, A. J., Krajewski, K. M., Scavina, M., Lewis, R. A., Li, J., Kamholz, J., Garbern, J. Y. & Shy, M. E. (2002). Disease severity and MPZ-mediated adhesion in CMT1B. Neurology, 58(7), A377–A378.

Garbern, J. Y., Moore, G. J., Du, B., Wilds, I., Shy, M., Krajewski, K., Lewis, R., Cambi, F. & Kamholz, J. A. (2002). Magnetic resonance imaging and spectroscopy of Pelizaeus-Merzbacher disease: Correlation of brain imaging and chemistry with clinical severity. Neurology, 58(7), A36–A36.

Shy, M. E., Krajewski, K. M., Garbern, J. Y., Hoban, T. F., Lewis, R. A., Kamholz, J., Fishbeck, K. H. & Paulson, H. L. (2002). Transient CNS white matter abnormality in X-linked Charcot-Marie-Tooth disease. Neurology, 58(7), A376–A376.

Krajewski, K. M., Lewis, R. A., Li, J., Garbern, J. Y., Kamholz, J. A. & Shy, M. E. (2002). Women with CMTX. Neurology, 58(7), A376–A377.

Garbern, J. Y., Yool, D. A., Moore, G. J., Wilds, I. B., Faulk, M. W., Klugmann, M., Nave, K., Sistermans, E. A., van der Knaap, Marjo S.,, Bird, T. D., Shy, M. E., Kamholz, J. A. & Griffiths, I. R. (2002). Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation. Brain: A Journal of Neurology, 125(Pt 3), 551–561. PMID: 11872612.

Awatramani, R., Shumas, S., Kamholz, J. & Scherer, S. S. (2002). TGFbeta1 modulates the phenotype of Schwann cells at the transcriptional level. Molecular and Cellular Neurosciences, 19(3), 307–319. PMID: 11906205.

Uhler, J., Garbern, J., Yang, L., Kamholz, J. & Mellerick, D. M. (2002). Erratum: Nk6, a novel Drosophila homeobox gene regulated by vnd (Mechanisms of Development (2002) 116 (105-116) PII: S0925477302001557). Mechanisms of Development, 119(2), 259–260. DOI: 10.1016/S0925-4773(02)00392-1.

Khan, O. A., Tselis, A. C., Kamholz, J. A., Garbern, J. Y., Lewis, R. A. & Lisak, R. P. (2001). A prospective, open-label treatment trial to compare the effect of IFN beta-1a (Avonex((R))), IFN beta-1b (Betaseron((R))), and glatiramer acetate (Copaxone((R))) on the relapse rate in relapsing-remitting multiple sclerosis: results after 18 months of therapy. Multiple Sclerosis, 7(6), 349–353. DOI: 10.1191/135245801701567041.

Menichella, D. M., Arroyo, E. J., Awatramani, R., Xu, T., Baron, P., Vallat, J. M., Balsamo, J., Lilien, J., Scarlato, G., Kamholz, J., Scherer, S. S. & Shy, M. E. (2001). Protein zero is necessary for E-cadherin-mediated adherens junction formation in Schwann cells. Molecular and Cellular Neuroscience, 18(6), 606–618. PMID: 11749037.

Garbern, J., Shy, M., Krajewski, K., Kamholz, J., Hobson, G. & Cambi, F. (2001). Evidence for neuroaxonal injury in patients with proteolipid gene mutations. Neurology, 57(10), 1938–1939.

Xu, W. B., Shy, M., Kamholz, J., Balsamo, J. & Lilien, J. (2001). Mutations in the cytoplasmic domain of myelin protein P0 (MPZ) abolish adhesive function and reveal a role for protein kinase C-mediated phosphorylation in myelination. Molecular Biology of the Cell, 12, 400A–401A.

Xu, W. B., Shy, M., Kamholz, J., Elferink, L., Xu, G., Lilien, J. & Balsamo, J. (2001). Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination. Journal of Cell Biology, 155(3), 439–445. DOI: 10.1083/jcb.200107114.

Khan, O. A., Tselis, A. C., Kamholz, J. A., Garbern, J. Y., Lewis, R. A. & Lisak, R. P. (2001). Appropriate design and outcome measures in multiple sclerosis clinical trials - Response. European Journal of Neurology, 8(5), 505–506. DOI: 10.1046/j.1468-1331.2001.00259.x.

Khan, O. A., Zvartau-Hind, M., Caon, C., Din, M. U., Cochran, M., Lisak, D., Tselis, A. C., Kamholz, J. A., Garbern, J. Y. & Lisak, R. P. (2001). Effect of monthly intravenous cyclophosphamide in rapidly deteriorating multiple sclerosis patients resistant to conventional therapy. Multiple Sclerosis, 7(3), 185–188. DOI: 10.1177/135245850100700309.

Shy, M. E., Balsamo, J., Lilien, J. & Kamholz, J. (2001). Inherited demyelinating neuropathies: Clues to pathogenesis. Acta Myologica, 20, 9–20.

Shy, M. E., Xu, W. B., Lilien, J., Balsamo, J. & Kamholz, J. (2001). Mutations in MPZ cytoplasmic domain abolish adhesion and reveal role for Protein Kinase C mediated phosphorylation in PNS myelination. Neurology, 56(8), A316–A316.

Jiang, H. Y., Boespflug-Tanguy, O., Garbern, J. Y., Mancias, P., Lewis, R. A., Krajewski, K. M., Kamholz, J. & Shy, M. E. (2001). Novel classes of PLP gene mutations are associated with PNS and CNS disease. Neurology, 56(8), A324–A324.

Khan, O. A., Tselis, A. C., Kamholz, J. A., Garbern, J. Y., Lewis, R. A. & Lisak, R. P. (2001). A prospective, open-label treatment trial to compare the effect of IFN beta-1a (Avonex), IFN beta-1b (Betaseron), and glatiramer acetate (Copaxone) on the relapse rate in relapsing-remitting multiple sclerosis. European Journal of Neurology, 8(2), 141–148. DOI: 10.1046/j.1468-1331.2001.00189.x.

Whitaker, J. N., Wolinsky, J. S., Narayana, P. A., Bartolucci, A. A., Noseworthy, J. H., Lublin, F. D., Linde, A., Gjörstrup, P. & Sullivan, H. C. (2001). Relationship of urinary myelin basic protein-like material with cranial magnetic resonance imaging in advanced multiple sclerosis. Archives of neurology, 58(1), 49-54. PMID: 11176936.

Khan, O., Zvartau-Hind, M., Gilani, A., Zhai, H., Lewis, R., Kamholz, J. & Lisak, R. (2000). Recurrent transverse myelitis in African-Americans. Annals of Neurology, 48(3), 451–451.

Awatramani, R., Beesley, J., Yang, H. B., Jiang, H. Y., Cambi, F., Grinspan, J., Garbern, J. & Kamholz, J. (2000). Gtx, an oligodendrocyte-specific homeodomain protein, has repressor activity. Journal of Neuroscience Research, 61(4), 376–387. DOI: 10.1002/1097-4547(20000815)61:4<376::AID-JNR4>3.0..

Hodes, M. E., Woodward, K., Spinner, N. B., Emanuel, B. S., Enrico-Simon, A., Kamholz, J., Stambolian, D., Zackai, E. H., Pratt, V. M., Thomas, I. T., Crandall, K., Dlouhy, S. R. & Malcolm, S. (2000). Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome. American Journal of Human Genetics, 67(1), 14–22. DOI: 10.1086/302965.

Krajewski, K. M., Lewis, R. A., Fuerst, D. R., Turansky, C., Hinderer, S. R., Garbern, J., Kamholz, J. & Shy, M. E. (2000). Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain, 123, 1516–1527. DOI: 10.1093/brain/123.7.1516.

Jiang, H. Y., Duchala, C. S., Awatramani, R., Shumas, S., Carlock, L., Kamholz, J., Garbern, J., Scherer, S. S., Shy, M. E. & Macklin, W. B. (2000). Proteolipid protein mRNA stability is regulated by axonal contact in the rodent peripheral nervous system. Journal of Neurobiology, 44(1), 7–19. DOI: 10.1002/1097-4695(200007)44:1<7::AID-NEU2>3.0.CO;2.

Dyer, C. A., Kendler, A., Jean-Guillaume, D., Awatramani, R., Lee, A., Mason, L. M. & Kamholz, J. (2000). GFAP-positive and myelin marker-positive glia in normal and pathologic environments. Journal of Neuroscience Research, 60(3), 412–426. DOI: 10.1002/(SICI)1097-4547(20000501)60:3<412::AID-JNR.

Acsadi, G., Anguelov, R., Lewis, R. A., Jani, A., Yang, H., Ianakova, E. P., Kamholz, J. & Shy, M. E. (2000). Adenoviral mediated GDNF gene transfer in SOD1 transgenic mice. Neurology, 54(7), A154–A155.

Khan, O., Zvartau-Hind, M., Kamholz, J., Garbern, J., Lewis, R., Cochran, M., Lisak, D. & Lisak, R. (2000). Efficacy and tolerability of monthly intravenous (IV) cyclophosphamide (CTX) in rapidly deteriorating MS patients resistant to conventional therapy. Neurology, 54(7), A337–A338.

Shy, M. E., Garbern, J., Mancias, P., Lewis, R. A. & Kamholz, J. (2000). PLP neuropathies: Proving the null hypothesis. Neurology, 54(7), A70–A70.

Tang, X. M., Beesley, J. S., Grinspan, J. B., Seth, P., Kamholz, J. & Cambi, F. (2000). Cell cycle arrest induced by ectopic expression of p27 is not sufficient to promote oligodendrocyte differentiation. Journal of Cellular Biochemistry, 76(2), 270–279. DOI: 10.1002/(SICI)1097-4644(20000201)76:2<270::AID-JCB.

Kamholz, J., Menichella, D., Jani, A., Garbern, J., Lewis, R. A., Krajewski, K. M., Lilien, J., Scherer, S. S. & Shy, M. E. (2000). Charcot-Marie-Tooth disease type 1 - Molecular pathogenesis to gene therapy. Brain, 123, 222–233. DOI: 10.1093/brain/123.2.222.

Garbern, J. Y., Griffiths, I. R., Moore, G. J., Faulk, M., Shy, M. E. & Kamholz, J. A. (2000). Proteolipid protein is necessary for axonal integrity. Journal of Neurochemistry, 74, S94–S94.

Shy, M., Menichella, D., Xu, W., Jiang, H., Vallat, J. M., Lilien, J., Baron, P. & Kamholz, J. (2000). Regulatory and structural roles for P0 glycoprotein in PNS myelination. Journal of Neurochemistry, 74, S94–S94.

Garbern, J., Cambi, F., Shy, M. & Kamholz, J. (1999). The molecular pathogenesis of Pelizaeus-Merzbacher disease. Archives of Neurology, 56(10), 1210–1214. DOI: 10.1001/archneur.56.10.1210.

Khan, O., Tselis, A., Garbern, J., Kamholz, J. & Lisak, R. (1999). Clinical profile of relapsing multiple sclerosis in African Americans: Impact of immunomodulating therapy on disease course. Annals of Neurology, 46(3), 471–472.

Shy, M. E., Krajewski, K., Turansky, C., Garbern, J., Kamholz, J. A. & Lewis, R. (1999). CMT1A phenotype correlates with secondary axonal degeneration but not demyelination. Neurology, 52(6), A217–A217.

Jani, A., Menichella, D. M., Grever, W., Kamholz, J., Shy, M. E. & Acsadi, G. (1999). Development of a GDNF expressing recombinant adenovirus to treat inherited demyelinating peripheral neuropathies. Neurology, 52(6), A129–A130.

Menichella, D. M., Xu, W. B., Vallat, J. M., Sohi, J., Baron, P., Scarpini, E., Scarlato, G., Kamholz, J. & Shy, M. (1999). The absence of Protein Zero produces a novel molecular phenotype in Schwann cells. Neurology, 52(6), A11–A11.

Jani, A., Menichella, D., Jiang, H. Y., Chbihi, T., Acsadi, G., Shy, M. E. & Kamholz, J. (1999). Modulation of cell-mediated immunity prolongs adenovirus-mediated transgene expression in sciatic nerve. Human Gene Therapy, 10(5), 787–800. DOI: 10.1089/10430349950018544.

Krajewski, K., Turansky, C., Lewis, R., Garbern, J., Hinderer, S., Kamholz, J. & Shy, M. E. (1999). Correlation between weakness and axonal loss in patients with CMT1A. In Charcot-Marie-Tooth Disorders. pp. 490–492.

Jiang, H. Y., Awatramani, R., Menichella, D., Shy, M. & Kamholz, J. (1999). Homeodomain protein Pbx1 is expressed in prepheral nervous system. Journal of Neurochemistry, 72, S57–S57.

Shy, M. E., Kamholz, J. & Lovelace, R. E. (1999). Introduction to the Third International Symposium on Charcot-Marie-Tooth disorders. In Charcot-Marie-Tooth Disorders. pp. XIII–XVIII.

Jani, A., Menichella, D., Jiang, H. Y., Chbihi, T., Acsadi, G., Kamholz, J. & Shy, M. E. (1999). Overcoming cellular immunity to prolong adenoviral-mediated gene expression in sciatic nerve. In Charcot-Marie-Tooth Disorders. pp. 397–414.

Garbern, J. Y., Cambi, F., Lewis, R., Shy, M., Sima, A., Kraft, G., Vallat, J. M., Bosch, E. P., Hodes, M. E., Dlouhy, S., Raskind, W., Bird, T., Macklin, W. & Kamholz, J. (1999). Peripheral neuropathy caused by proteolipid protein gene mutations. In Charcot-Marie-Tooth Disorders. pp. 351–365.

Kamholz, J., Awatramani, R., Menichella, D., Jiang, H. Y., Xu, W. B. & Shy, M. (1999). Regulation of myelin-specific gene expression - Relevance to CMT1. In Charcot-Marie-Tooth Disorders. pp. 91–108.

Menichella, D. M., Xu, W. B., Jiang, H. Y., Sohi, J., Vallat, J. M., Baron, P., Kamholz, J. & Shy, M. (1999). The absence of myelin P(0) protein produces a novel molecular phenotype in Schwann cells. In Charcot-Marie-Tooth Disorders. pp. 281–293.

Krajewski, K., Shein, N., Watson, C., Fuerst, D., Kamholz, J., Garbern, J., Shah, J., Shah, A. & Chugani, H. T. (1999). The genetics of hippocampal sclerosis. Epilepsia, 40, 234–234.

Cambi, F., Garbern, J., Shy, M. & Kamholz, J. (1999). X-linked spasticity syndromes caused by mutations in the PLP gene. Journal of Neurochemistry, 72, S17–S17.

Tang, X. M., Beesley, J., Grinspan, J., Seth, P., Kamholz, J. & Cambi, F. (1998). Cell cycle arrest induced by p27 is not sufficient to promote oligodendrocyte differentiation. Molecular Biology of the Cell, 9, 240A–240A.

Taveggia, C., Pizzagalli, A., Feltri, M. L., Grinspan, J. B., Kamholz, J. & Wrabetz, L. (1998). MEBA derepresses the proximal myelin basic protein promoter in oligodendrocytes. Journal of Biological Chemistry, 273(42), 27741–27748. DOI: 10.1074/jbc.273.42.27741.

Garbay, B., Boiron-Sargueil, F., Shy, H., Chbihi, T., Jiang, H. Y., Kamholz, J. & Cassagne, C. (1998). Regulation of Oleoyl-CoA synthesis in the peripheral nervous system: Demonstration of a link with myelin synthesis. Journal of Neurochemistry, 71(4), 1719–1726.

Menichella, D. M., Jani, A. A., Xu, W. B., Vallat, J. M., Chbihi, T., Kamholz, J. & Shy, M. E. (1998). A novel molecular phenotype in Schwann cells of PO knockout mice. Neurology, 50(4), A105–A105.

Kamholz, J., Ramsay, D., Cairncross, G., Sohi, J. & Garbern, J. (1998). Analysis of myelin gene expression in human primary gliomas. Neurology, 50(4), A421–A421.

Kamholz, D., Nikhar, N. K., Shein, N., Walkowicz, K., Wright, J., Kamholz, J., Garbern, J., Lewis, R. & Shy, M. E. (1998). Quantitative motor and sensory analysis of patients with CMT1. Neurology, 50(4), A104–A104.

Loevner, L. A., Overhauser, J. & Kamholz, J. (1998). 18q-syndrome and white matter alterations - Reply. American Journal of Neuroradiology, 19(2), 398–399.

Wrabetz, L., Taveggia, C., Feltri, M. L., Quattrini, A., Awatramani, R., Scherer, S. S., Messing, A. & Kamholz, J. (1998). A minimal human MBP promoter lacZ transgene is appropriately regulated in developing brain and after optic enucleation, but not in shiverer mutant mice. Journal of Neurobiology, 34(1), 10–26. DOI: 10.1002/(SICI)1097-4695(199801)34:1<10::AID-NEU2>3.

Jean-Guillaume, D., Lee, A., Mason, L. M., Awatramani, R., Kamholz, J. & Dyer, C. A. (1998). Evidence that a subset of oligodendrocytes express GFAP in normal mouse brain. Journal of Neurochemistry, 70, S55–S55.

Zackai, E. H., Stambolian, D., Enrico, A., McDonald-McGinn, D. M., Kamholz, J., Emanuel, B. S. & Spinner, N. B. (1997). Familial Pelizaeus Merzbacher disease with a pericentric inversion of the X chromosome [inv(X)(p11.4q22.1)] resulting in PLP gene. American Journal of Human Genetics, 61(4), A144–A144.

Awatramani, R., Scherer, S., Grinspan, J., Collarini, E., Skoff, R., OHagan, D., Garbern, J. & Kamholz, J. (1997). Evidence that the homeodomain protein Gtx is involved in the regulation of oligodendrocyte myelination. Journal of Neuroscience, 17(17), 6657–6668.

Shy, M. E., Arroyo, E., Sladky, J., Menichella, D., Jiang, H. Y., Xu, W. B., Kamholz, J. & Scherer, S. S. (1997). Heterozygous P-0 knockout mice develop a peripheral neuropathy that resembles chronic inflammatory demyelinating polyneuropathy (CIDP). Journal of Neuropathology and Experimental Neurology, 56(7), 811–821.

Garbern, J. Y., Cambi, F., Tang, X. M., Sima, A. A., Vallat, J. M., Bosch, E. P., Lewis, R., Shy, M., Sohi, J., Kraft, G., Chen, K. L., Joshi, I., Leonard, D. G., Johnson, W., Raskind, W., Dlouhy, S. R., Pratt, V., Hodes, M. E., Bird, T. & Kamholz, J. (1997). Proteolipid protein is necessary in peripheral as well as central myelin. Neuron, 19(1), 205–218. DOI: 10.1016/S0896-6273(00)80360-8.

Ferraresi, S., Lorenzetti, I., Nemni, R., Kamholz, J., Feltri, M. L. & Wrabetz, L. (1997). Toward a transgenic mouse model of remyelination. Multiple Sclerosis, 3(2), 80–83.

Lewis, R. A., Garbern, J. Y., Shy, M. E., Bird, T. D., Kraft, G. H., Sima, A., Hodes, M. E. & Kamholz, J. A. (1997). Absence of proteolipid protein expression causes an inherited demyelinating peripheral neuropathy. Neurology, 48(3), 39001–39001.

Menichella, D., Arroyo, E., Scherer, S. S., Jiang, H. Y., Xu, W. B., Kamholz, J. & Shy, M. E. (1997). Inflammatory infiltrates in peripheral nerves of P0+/- mice suggest an immunologic cause for the neuropathy. Neurology, 48(3), 5100–5100.

Garbern, J. Y., Cambi, F., Lewis, R., Shy, M. E., Hodes, M. E., Dlouhy, S., Pratt, V., Sima, A., Bird, T. & Kamholz, J. (1997). Proteolipid protein (PLP) expression is critical for PNS as well as CNS myelination: Molecular and pathological characterization of a family with a novel PLP mutation. Neurology, 48(3), 6093–6093.

Jani, A., Menichella, D., Jiang, H. Y., Chbihi, T., Sima, A., Acsadi, G., Shy, M. E. & Kamholz, J. (1997). Schwann cell expression of a recombinant adenovirus in sciatic nerve is limited by the host cellular immune response and can be overcome by immunosuppression. Neurology, 48(3), 5099–5099.

Xu, W. B., Menichella, D., Jiang, H. Y., Kamholz, J., Vallat, J. M. & Shy, M. (1997). A novel Schwann cell phenotype in P0 knockout mice. Journal of Neurochemistry, 69, S124–S124.

Jiang, H., Awatramani, R., Shumas, S., Scherer, S., Kamholz, J. & Shy, M. (1997). Schwann cells regulate the coordinate program of myelin gene expression by multiple mechanisms. Journal of Neurochemistry, 69, S227–S227.

Kamholz, J. A. (1996). Regulation of myelin development. Multiple Sclerosis Journal, 2(5), 236-240. DOI: 10.1177/135245859600200506.

Loevner, L. A., Shapiro, R. M., Grossman, R. I., Overhauser, J. & Kamholz, J. (1996). White matter changes associated with deletions of the long arm of chromosome 18 (18q-syndrome): A dysmyelinating disorder?. American Journal of Neuroradiology, 17(10), 1843–1848.

Shy, M. E., Menichella, D., Jani, A., Xu, W. B., Jiang, H. Y., Chbihi, T. B. & Kamholz, J. (1996). Remyelinating peripheral nerves of Po knockout mice with a Po expressing adenovirus. Annals of Neurology, 40(3), T216–T216.

Mahr, R. N., Moberg, P. J., Overhauser, J., Strathdee, G., Kamholz, J., Loevner, L. A., Campbell, H., Zackai, E. H., Reber, M. E., Mozley, D. P., Brown, L., Turetsky, B. I. & Shapiro, R. M. (1996). Neuropsychiatry of 18q- syndrome. American Journal of Medical Genetics, 67(2), 172–178.

Shy, M. E., Shi, Y., Wrabetz, L., Kamholz, J. & Scherer, S. S. (1996). Axon-Schwann cell interactions regulate the expression of c-jun in Schwann cells. Journal of Neuroscience Research, 43(5), 511–525. DOI: 10.1002/(SICI)1097-4547(19960301)43:5<511::AID-JNR.

Shy, M. E., Sladky, J., Kamholz, J., Menichella, D., Xu, W. B., Jiang, H. Y., Whyatt, S., Scherer, S. & Martini, R. (1996). One year-old heterozygous P-0 knockout mice develop a CIDP-like peripheral neuropathy. Neurology, 46(2), 46001–46001.

Jani, A., Acsadi, G., Karpati, G., Lochmueller, H., Kamholz, J. & Shy, M. (1996). Recombinant adenovirus vector-mediated gene transfer into spinal motor neurons and peripheral nerves. Neurology, 46(2), 5022–5022.

Jiang, H. Y., Jani, A., Chbihi, T., Kamholz, J. & Shy, M. (1996). Schwann cells infected with replication defective adenovirus can ensheath and myelinate axons. Journal of Neurochemistry, 66, S47–S47.

Awatramani, R., Scherer, S., Grinspan, J., Collarini, E., Skoff, R., Garbern, J. & Kamholz, J. (1996). The homeodomain protein, GTX: A possible regulator of oligodendrocyte myelination. Journal of Neurochemistry, 66, S24–S24.

STRATHDEE, G., ZACKAI, E., SHAPIRO, R., KAMHOLZ, J. & OVERHAUSER, J. (1995). ANALYSIS OF CLINICAL VARIATION SEEN IN PATIENTS WITH 18Q TERMINAL DELETIONS. American Journal of Medical Genetics, 59(4), 476–483. DOI: 10.1002/ajmg.1320590414.

SHY, M., TANI, M., SHI, Y., WHYATT, S., CHBIHI, T., SCHERER, S. & KAMHOLZ, J. (1995). AN ADENOVIRAL VECTOR CAN TRANSFER LACZ EXPRESSION INTO SCHWANN-CELLS IN CULTURE AND IN SCIATIC-NERVE. Annals of Neurology, 38(3), 429–436. DOI: 10.1002/ana.410380313.

WRABETZ, L., FELTRI, M., KIM, H., DASTON, M., KAMHOLZ, J., SCHERER, S. & RATNER, N. (1995). REGULATION OF NEUROFIBROMIN EXPRESSION IN RAT SCIATIC-NERVE AND CULTURED SCHWANN-CELLS. Glia, 15(1), 22–32. DOI: 10.1002/glia.440150104.

SHY, M., TANI, M., SHI, Y., SCHERER, S., WILSON, J., CHBIHI, T. & KAMHOLZ, J. (1995). REMYELINATING PO KNOCKOUT MICE WITH A PO-EXPRESSING ADENOVIRAL VECTOR. Neurology, 45(4), A297–A297.

TANI, M., SHY, M., SHI, Y., SCHERER, S., CHBIHI, T., WILSON, J. & KAMHOLZ, J. (1995). SCHWANN-CELLS INFECTED WITH A RECOMBINANT CMV-LACZ ADENOVIRUS EXPRESS B-GALACTOSIDASE IN-VITRO AND IN-VIVO. Neurology, 45(4), A297–A298.

JACOBS, A., KAMHOLZ, J. & SEIZER, M. (1995). THE SINGLE LAMPREY NEUROFILAMENT SUBUNIT (NF-180) LACKS MULTIPHOSPHORYLATION REPEATS AND IS EXPRESSED SELECTIVELY IN PROJECTION NEURONS. Molecular Brain Research, 29(1), 43–52. DOI: 10.1016/0169-328X(94)00227-6.

BARON, P., SHY, M., KAMHOLZ, J., SCARLATO, G. & PLEASURE, D. (1994). EXPRESSION OF PO PROTEIN MESSENGER-RNA ALONG RAT SCIATIC-NERVE DURING DEVELOPMENT. Developmental Brain Research, 83(2), 285–288. DOI: 10.1016/0165-3806(94)00149-9.

Kamholz, J., Shy, M. & Scherer, S. (1994). Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with C Harcot-Marie-Tooth disease type 1A. Annals of Neurology, 36(3), 451-452. DOI: 10.1002/ana.410360326.

Cambi, F., Kamholz, J. (1994). Transcriptional regulation of the rat PLP promoter in primary cultures of oligodendrocytes. Neurochemical Research, 19(8), 1055-1060. DOI: 10.1007/bf00968716.

SCHERER, S., XU, Y., ROLING, D., WRABETZ, L., FELTRI, M. & KAMHOLZ, J. (1994). EXPRESSION OF GROWTH-ASSOCIATED PROTEIN-43 KD IN SCHWANN-CELLS IS REGULATED BY AXON-SCHWANN CELL-INTERACTIONS AND CAMP. Journal of Neuroscience Research, 38(5), 575–589. DOI: 10.1002/jnr.490380510.

LI, X., WRABETZ, L., CHENG, Y. & KAMHOLZ, J. (1994). A NOVEL CYCLIC-AMP RESPONSE ELEMENT, CACTTGATC, MEDIATES FORSKOLIN INDUCTION OF THE MYELIN BASIC-PROTEIN PROMOTER IN THE RAT SCHWANNOMA LINE, D6P2T. Journal of Neurochemistry, 63(1), 28–40.

SCHERER, S., BRAUN, P., GRINSPAN, J., COLLARINI, E., WANG, D. & KAMHOLZ, J. (1994). DIFFERENTIAL REGULATION OF THE 2’3’-CYCLIC NUCLEOTIDE 3’-PHOSPHODIESTERASE GENE DURING OLIGODENDROCYTE DEVELOPMENT. Neuron, 12(6), 1363–1375. DOI: 10.1016/0896-6273(94)90451-0.

FELTRI, M., SCHERER, S., NEMNI, R., KAMHOLZ, J., VOGELBACKER, H., SCOTT, M., CANAL, N., QUARANTA, V. & WRABETZ, L. (1994). BETA(4)-INTEGRIN EXPRESSION IN MYELINATING SCHWANN-CELLS IS POLARIZED, DEVELOPMENTALLY-REGULATED AND AXONALLY DEPENDENT. Development, 120(5), 1287–1301.

SCHERER, S., WANG, D., KUHN, R., LEMKE, G., WRABETZ, L. & KAMHOLZ, J. (1994). AXONS REGULATE SCHWANN-CELL EXPRESSION OF THE POU TRANSCRIPTION FACTOR SCIP. Journal of Neuroscience, 14(4), 1930–1942.

BARON, P., SHY, M., HONDA, H., SESSA, M., KAMHOLZ, J. & PLEASURE, D. (1994). DEVELOPMENTAL EXPRESSION OF P0 MESSENGER-RNA AND P0 PROTEIN IN THE SCIATIC-NERVE AND THE SPINAL NERVE ROOTS OF THE RAT. Journal of Neurocytology, 23(4), 249–257. DOI: 10.1007/BF01275529.

CHENG, Y., LI, X., KAMHOLZ, J. & BURNS, F. (1994). ORGANIZATION OF THE MOUSE GP42/BASIGIN GENE - A MEMBER OF THE IG SUPERFAMILY. Biochimica Et Biophysica Acta-Gene Structure and Expression, 1217(3), 307–311. DOI: 10.1016/0167-4781(94)90290-9.

SHY, M., SHI, Y., KAMHOLZ, J. & SCHERER, S. (1994). C-JUN IS EXPRESSED BY NON-MYELINATING SCHWANN-CELLS IN PNS. Journal of Neurochemistry, 62, S108–S108.

CAMBI, F., TANG, X. & KAMHOLZ, J. (1994). REGULATION OF PLP IN PRIMARY OLIGODENDROCYTES. Journal of Neurochemistry, 62, S1–S1.

WRABETZ, L., SHUMAS, S., GRINSPAN, J., FELTRI, M., BOZYCZKO, D., MCMORRIS, F., PLEASURE, D. & KAMHOLZ, J. (1993). ANALYSIS OF THE HUMAN MBP PROMOTER IN PRIMARY CULTURES OF OLIGODENDROCYTES - POSITIVE AND NEGATIVE CIS-ACTING ELEMENTS IN THE PROXIMAL MBP PROMOTER MEDIATE OLIGODENDROCYTE-SPECIFIC EXPRESSION OF MBP. Journal of Neuroscience Research, 36(4), 455–471. DOI: 10.1002/jnr.490360412.

SCHERER, S., KAMHOLZ, J. & JAKOWLEW, S. (1993). AXONS MODULATE THE EXPRESSION OF TRANSFORMING GROWTH-FACTOR-BETAS IN SCHWANN-CELLS. Glia, 8(4), 265–276. DOI: 10.1002/glia.440080407.

BARON, P., KAMHOLZ, J., SCHERER, S., HONDA, H., SHY, M., SCARPINI, E., SCARLATO, G. & PLEASURE, D. (1993). APPEARANCE OF PLP MESSENGER-RNA IN SPECIFIC REGIONS OF THE DEVELOPING RAT LUMBOSACRAL SPINAL-CORD AS REVEALED BY INSITU HYBRIDIZATION. Experimental Neurology, 121(1), 139–147. DOI: 10.1006/exnr.1993.1080.

KLINE, A., WHITE, M., WAPNER, R., ROJAS, K., BIESECKER, L., KAMHOLZ, J., ZACKAI, E., MUENKE, M., SCOTT, C. & OVERHAUSER, J. (1993). MOLECULAR ANALYSIS OF THE 18Q–SYNDROME - AND CORRELATION WITH PHENOTYPE. American Journal of Human Genetics, 52(5), 895–906.

GRINSPAN, J., WRABETZ, L. & KAMHOLZ, J. (1993). OLIGODENDROCYTE MATURATION AND MYELIN GENE-EXPRESSION IN PDGF-TREATED CULTURES FROM RAT CEREBRAL WHITE MATTER. Journal of Neurocytology, 22(5), 322–333. DOI: 10.1007/BF01195556.

Hobson, G. M., Kamholz, J. (1993). PLP1-Related Disorders. In GeneReviews(®). Seattle (WA): University of Washington, Seattle. PMID: 20301361.

FELTRI, M., SCHERER, S., WRABETZ, L., KAMHOLZ, J. & SHY, M. (1992). MITOGEN-EXPANDED SCHWANN-CELLS RETAIN THE CAPACITY TO MYELINATE REGENERATING AXONS AFTER TRANSPLANTATION INTO RAT SCIATIC-NERVE. Proceedings of the National Academy of Sciences of the United States of America, 89(18), 8827–8831. DOI: 10.1073/pnas.89.18.8827.

SCHERER, S., VOGELBACKER, H. & KAMHOLZ, J. (1992). AXONS MODULATE THE EXPRESSION OF PROTEOLIPID PROTEIN IN THE CNS. Journal of Neuroscience Research, 32(2), 138–148. DOI: 10.1002/jnr.490320203.

KAMHOLZ, J., SESSA, M., SCHERER, S., VOGELBACKER, H., MOKUNO, K., BARON, P., WRABETZ, L., SHY, M. & PLEASURE, D. (1992). STRUCTURE AND EXPRESSION OF PROTEOLIPID PROTEIN IN THE PERIPHERAL NERVOUS-SYSTEM. Journal of Neuroscience Research, 31(2), 231–244. DOI: 10.1002/jnr.490310204.

GUTMANN, D., ZACKAI, E., MCDONALDMCGINN, D., FISCHBECK, K. & KAMHOLZ, J. (1991). OCULODENTODIGITAL DYSPLASIA SYNDROME ASSOCIATED WITH ABNORMAL CEREBRAL WHITE MATTER. American Journal of Medical Genetics, 41(1), 18–20. DOI: 10.1002/ajmg.1320410106.

WEISS, B., KAMHOLZ, J., RITTER, A., ZACKAI, E., MCDONALDMCGINN, D., EMANUEL, B. & FISCHBECK, K. (1991). SEGMENTAL SPINAL MUSCULAR-ATROPHY AND DERMATOLOGICAL FINDINGS IN A PATIENT WITH CHROMOSOME-18Q DELETION. Annals of Neurology, 30(3), 419–423. DOI: 10.1002/ana.410300316.

BURNS, F., VONKANNEN, S., GUY, L., RAPER, J., KAMHOLZ, J. & CHANG, S. (1991). DM-GRASP, A NOVEL IMMUNOGLOBULIN SUPERFAMILY AXONAL SURFACE PROTEIN THAT SUPPORTS NEURITE EXTENSION. Neuron, 7(2), 209–220. DOI: 10.1016/0896-6273(91)90259-3.

WRABETZ, L., KIANOURY, D., SHUMAS, S., GRINSPAN, J., PLEASURE, D. & KAMHOLZ, J. (1990). TRANSCRIPTIONAL REGULATION OF THE HUMAN MYELIN BASIC-PROTEIN GENE. Annals of the New York Academy of Sciences, 605, 354–357. DOI: 10.1111/j.1749-6632.1990.tb42410.x.

WAGNER, R., YOO, C., WRABETZ, L., KAMHOLZ, J., BUCHHALTER, J., HASSAN, N., KHALILI, K., KIM, S., PERUSSIA, B., MCMORRIS, F. & NISHIKURA, K. (1990). DOUBLE-STRANDED-RNA UNWINDING AND MODIFYING ACTIVITY IS DETECTED UBIQUITOUSLY IN PRIMARY TISSUES AND CELL-LINES. Molecular and Cellular Biology, 10(10), 5586–5590.

ADLER, C., WRABETZ, L., KAMHOLZ, J. & HURTIG, H. (1990). FAMILIAL TORSION DYSTONIA AND CEREBELLAR-ATAXIA - VARIABLE PHENOTYPES IN A FAMILY. Annals of Neurology, 28(2), 300–300.

GUTMANN, D., FISCHBECK, K. & KAMHOLZ, J. (1990). COMPLICATED HEREDITARY SPASTIC PARAPARESIS WITH CEREBRAL WHITE MATTER LESIONS. American Journal of Medical Genetics, 36(2), 251–257. DOI: 10.1002/ajmg.1320360222.

WRABETZ, L., KIANOURY, D., SHUMAS, S., GRINSPAN, J., PLEASURE, D. & KAMHOLZ, J. (1990). TRANSCRIPTIONAL REGULATION OF THE HUMAN MYELIN BASIC-PROTEIN GENE. (Vols. 605).

Baron, P., Shy, M., Honda, H., Sessa, M., Conti, G., Feltri, M., Pleasure, D. & Kamholz, J. (1990). Distribution of PLP and P0 mRNA during rat peripheral nerve development. Annals of the New York Academy of Sciences, 605, 375–376. DOI: 10.1111/j.1749-6632.1990.tb42417.x.

MOKUNO, K., KAMHOLZ, J., BEHRMAN, T., BLACK, C., SESSA, M., FEINSTEIN, D., LEE, V. & PLEASURE, D. (1989). NEURONAL MODULATION OF SCHWANN-CELL GLIAL FIBRILLARY ACIDIC PROTEIN (GFAP). Journal of Neuroscience Research, 23(4), 396–405. DOI: 10.1002/jnr.490230405.

Kamholz, J. (1989). Molecular Genetics of Myelin Basic Protein in Mouse and Humans. In Myelination and Demyelination. pp. 49-59. Springer Nature. DOI: 10.1007/978-1-4613-0777-8_4.

TIEDEMAN, A., KEYHANI, J., KAMHOLZ, J., DAUM, H., GOTS, J. & SMITH, J. (1989). NUCLEOTIDE-SEQUENCE ANALYSIS OF THE PUREK OPERON ENCODING 5’-PHOSPHORIBOSYL-5-AMINOIMIDAZOLE CARBOXYLASE OF ESCHERICHIA-COLI K-12. Journal of Bacteriology, 171(1), 205–212.

KAMHOLZ, J., TOFFENETTI, J. & LAZZARINI, R. (1988). ORGANIZATION AND EXPRESSION OF THE HUMAN MYELIN BASIC-PROTEIN GENE. Journal of Neuroscience Research, 21(1), 62–70. DOI: 10.1002/jnr.490210110.

VANOBBERGHEN, E., KAMHOLZ, J., BISHOP, J., ZOMZELYNEURATH, C. & LAZZARINI, R. (1988). HUMAN GAMMA-ENOLASE - ISOLATION OF A CDNA CLONE AND EXPRESSION IN NORMAL AND TUMOR-TISSUES OF HUMAN-ORIGIN. Journal of Neuroscience Research, 19(4), 450–456. DOI: 10.1002/jnr.490190409.

BRAY, P., CARTER, A., GUO, V., PUCKETT, C., KAMHOLZ, J., SPIEGEL, A. & NIRENBERG, M. (1987). HUMAN CDNA CLONES FOR AN ALPHA-SUBUNIT OF GI SIGNAL-TRANSDUCTION PROTEIN. Proceedings of the National Academy of Sciences of the United States of America, 84(15), 5115–5119. DOI: 10.1073/pnas.84.15.5115.

KAMHOLZ, J., SPIELMAN, R., GOGOLIN, K., MODI, W., OBRIEN, S. & LAZZARINI, R. (1987). THE HUMAN MYELIN-BASIC-PROTEIN GENE - CHROMOSOMAL LOCALIZATION AND RFLP ANALYSIS. American Journal of Human Genetics, 40(4), 365–373.

KAMHOLZ, J., SPIELMAN, R., GOGOLIN, K., MODI, W., OBRIEN, S. & LAZZARINI, R. (1987). THE HUMAN MYELIN BASIC-PROTEIN GENE - CHROMOSOMAL LOCALIZATION AND RFLP ANALYSIS. Cytogenetics and Cell Genetics, 46(1-4), 636–636.

BRAY, P., CARTER, A., SIMONS, C., GUO, V., PUCKETT, C., KAMHOLZ, J., SPIEGEL, A. & NIRENBERG, M. (1986). HUMAN CDNA CLONES FOR 4 SPECIES OF G-ALPHA-S SIGNAL TRANSDUCTION PROTEIN. Proceedings of the National Academy of Sciences of the United States of America, 83(23), 8893–8897. DOI: 10.1073/pnas.83.23.8893.

KAMHOLZ, J., DEFERRA, F., PUCKETT, C. & LAZZARINI, R. (1986). IDENTIFICATION OF 3 FORMS OF HUMAN MYELIN BASIC-PROTEIN BY CDNA CLONING. Proceedings of the National Academy of Sciences of the United States of America, 83(13), 4962–4966. DOI: 10.1073/pnas.83.13.4962.

Kamholz, J., Keyhani, J. & Gots, J. S. (1986). Molecular cloning and characterization of the purE operon of Escherichia coli. Gene, 44(1), 55-62. DOI: 10.1016/0378-1119(86)90042-9.

DEFERRA, F., ENGH, H., HUDSON, L., KAMHOLZ, J., PUCKETT, C., MOLINEAUX, S. & LAZZARINI, R. (1985). ALTERNATIVE SPLICING ACCOUNTS FOR THE 4 FORMS OF MYELIN BASIC-PROTEIN. Cell, 43(3), 721–727. DOI: 10.1016/0092-8674(85)90245-4.

Kamholz, J., Tremblay, G. (1985). Chickenpox with delayed contralateral hemiparesis caused by cerebral angiitis. Annals of Neurology, 18(3), 358-360. DOI: 10.1002/ana.410180317.

Kamholz, J. A. (1984). Cloning and Characterization of the Pure and Pure Genes of Escherichia Coli. United States – Pennsylvania: University of Pennsylvania.