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CURRICULUM VITAE
Name: Joanna C. Jen
Medical Education: M.D., Yale University, May 1992
Graduate Education:  h.D., Yale University, May 1991
Undergraduate Education: B.S., Chemistry/Biology, University of California, Irvine, June 1985
Postgraduate Education: Neurotology Fellowship, UCLA, June 1996 to June 1998Neurology Residency, UCLA, July 1993 to June 1996 Internship, Oregon Health Sciences University, June 92 to June 93
Professional Experience: Assistant Professor, UCLA Neurology, July 1998 to presentClinical Instructor, UCLA Neurology, July 1996-June 1998
Awards: UCLA Stein-Oppenheimer Award 2001NIDCD Mentored Clinical Scientist Development Award, May 1998-April 2003 ‘Mutations in Calcium Channels Causing Vertigo and Ataxia’PHS Medical Scientist Training Program Fellowship, 1985-1992
Publications:
Greengard P, Jen J, Nairn AC, and Stevens CF, Enhancement of the glutamate response by cAMP-dependent protein kinase in hippocampal neurons. Science 1991; 253: 1135-1138.
Jen J, Cohen A, Yue Q, Stout JT, Vinters HV, Nelson S, Baloh RW. Hereditary Endotheliopathy with Retinopathy, Nephropathy, and Stroke (HERNS). Neurology 1997; 49: 1322-1330.
Yue Q, Jen J, Nelson S, Baloh RW. Progressive ataxia due to a missense mutation in a calcium channel gene. Am J Hum Genet 1997; 61: 1078-1087.
Yue Q, Jen J, Thwe MM, Nelson S, Baloh RW. De novo mutation in CACNL1A4 caused acetazolamide-responsive episodic ataxia. Am J Med Genetics 1998; 77:298-301.
Kim JS, Yue Q, Jen J, Nelson S, Baloh RW. Familial migraine with vertigo: no mutations in CACNA1A. Am J Med Genet 1998; 79: 148-151.
Jen J, Yue Q, Karrim J, Nelson S, Baloh RW. SCA6 with positional vertigo and acetazolamide-responsive episodic ataxia. J Neurol Neurosurg Psychiatry 1998; 65: 565-568.
Buttner N, Geschwind D, Jen J, Perlman S, Pulst SM, Baloh RW. Oculomotor phenotypes in the SCA syndromes. Arch Neurol, 1998; 55(10):1353-7.
Lopez I, Ishiyama G, Ishiyama A, Jen J, Liu F, Baloh RW. Differential subcellular immunolocalization of voltage-gated calcium channel alpha-1 subunits in the chinchilla cristae ampullaris. Neuroscience, 1999; 92(2): 773-782.
Jen J, Yue Q, Nelson S, Yu H, Litt M, Nutt J, Baloh RW. A novel nonsense mutation in CACNA1A causing episodic ataxia and hemiplegia. Neurology, 1999; 53(1): 34-37.
Oh AK, Lee H, Jen JC, Corona S, Jacobson KM, Baloh RW. Familial benign recurrent vertigo. Am J Med Genet. 2001; 100(4):287-291.
Oh AK, Jacobson KM, Jen J, Baloh RW. Slowing of voluntary and involuntary saccades: an early sign in spinocerebellar ataxia type 7. Ann Neurol. 2001;49(6):801-804.
Ophoff RA, DeYoung J, Service SK, Joosse M, Caffo NA, Sandkuijl LA, Terwindt, GM, Haan J, Jen J, Baloh RW, Barilla-LaBarca M-L, Saccone NL, Atkinson JP, Ferrari MD, Freimer NB, Frants RR. Hereditary vascular retinopathy with migraine and Raynaud’s phenomenon (HVR), cerebroretinal vasculopathy (CRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS) map to a single locus on chromosome 3p21.1-21.3. Am J Hum Genet 2001; 69: 447-453.
Jen J, Wan J, Graves M, Yu H, Mock AF, Coulin C, Kim G, Yue Q, Papazian DM, Baloh RW. Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. Neurology 2001; 57: 1843-1848.
Durig JS, Jen J, Demer JL. Ocular motility in genetically defined dominant ataxia. Am J Ophthalmol. 2002; 133:718-721.
Jen J, Coulin CJ, Bosley T, Sabatti C, Nelson SF, Baloh RW. Congenital horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23. Neurology 2002; 59: 432-435.
Sasaki O, Jen J, Baloh RW, Kim GW, Isawa M, Usami S. Neurotological findings in episodic ataxia type 2 without a mutation in CACNA1A. J Neurol in press
Maselli RA, Harvey L,Graves M, Baloh RW, Wollman RL, Jen J. CACNA1A mutations cause presynaptic failure of neuromuscular transmission. submitted.
Sigurdardottir LR, Dlugos DJ, Solomon D, Kim GW, Baloh RW, Jen J. A mutation in CACNA1A causing familial episodic ataxia and epilepsy. submitted.
Wan J, Khanna R, Sandusky M, Oh F, Baloh RW, Papazian DM, Jen J. A missense pore mutation in CACNA1A causing severe progressive ataxia alters plasma membrane trafficking and kinetics of voltage-gated P/Q type calcium channels. submitted.
Abstracts:
Jen J, Baloh RW, Yue Q, Rosner LJ. Retinal cerebral arteriopathy [abstract]. Neurology 1995; 45 (suppl 4):477.
Jen J, Cohen A, Yue Q, Baloh RW. Hereditary systemic vasculopathy with stroke, retinopathy, and nephropathy[abstract]. Neurology 1997; 48 (suppl): P05.141.
Jen J, Yue Q, Nelson SF, Baloh RW. CAG repeat expansion associated with acetazolamide-responsive episodic ataxia [abstract] Ann Neurol 1997.
Baloh RW, Yue Q, Jen J, Nelson S. Spontaneous mutation in CACNL1A4 caused acetazolamide-responsive episodic ataxia [abstract] Ann Neurol 1997.
Lopez I, Jen J, Baloh RW. Voltage-dependent calcium channel distribution in the chinchilla inner ear [abstract] Association of Research in Otolaryngology 1998.
Jen J, Charles A, Lopez I, DiPatre P, Sicotte N, Cloughesy T, Baloh RW. Paraneoplastic opsoclonus-myoclonus syndrome with anti-neuronal cytoplasmic autoantibodies [abstract] Neurology 1998.
Jen J, Yue Q, Yu FH, Litt M, Nutt JG, Nelson SF, Baloh RW. Incomplete penetrance and phenotypic variability of a novel nonsense mutation in CACNA1A causing episodic ataxia and hemiplegic migraine. [abstract] Neurology 1999.
Oh AK, Lee H, Jen J, Marttilla P, Palotie A, Baloh RW. Familial benign recurrent vertigo and migraine. [abstract] Neurology 2000.
Jen J, Graves M, Yu H, Yue Q, Baloh RW. Mutations in CACNA1A cause myasthenic syndrome. [abstract] Neurology 2000.
Wan J, Coulin C, Yu H, Kim G, Baloh RW, Papazian DM, and Jen J. CACNA1A mutations causing episodic ataxia type 2 lead to loss of function of the P/Q type calcium channels in vitro. [abstract] Neurology 2001.
Masselli R, Jen J, Graves M. Baloh RW. Patients with CACNA1A mutations and associated myasthenic weakness have presynaptic failure of neuromuscular transmission. [abstract] Neurology 2001.
Jen J, Coulin C, Kim G, Sabatti C, Baloh RW. Genetic heterogeneity in episodic ataxia type 2. [abstract] Neurology 2001.
Ying S, Alger J, Rex D, Pitiot A, Jen J, Baloh RW, Mazziotta J, Toga A. Stochastic tomography, regional volumetric comparisons, and genotype-anatomical correlation in patients with spinocerebellar ataxia type 6 and episodic ataxia type 2. [abstract] Society for Neuroscience. 2001.
Wan J, Coulin C, Yu H, Kim G, Baloh RW, Papazian DM, and Jen J. Whole-Cell and Single-Channel Studies of the functional consequences of Cav2.1 Mutations Causing Ataxia. [abstract] Society for Neuroscience. 2001.
Bosley TM, Coulin C, Sabatti C, Nelson SF, Baloh RW, Jen J. The Clinical Features and Genetics of Congenital Horizontal Gaze Palsy with Progressive Scoliosis. [abstract] Neurology 2002.
Jen J, Kim GW, Baloh RW. The clinical spectrum and genotype-phenotype correlation in EA2. [abstract] Neurology 2002.
Bhidayasiri R, Jen J, Baloh RW. A new family with a very late onset focal dystonia. [abstract] Neurology in press.
Hoot K, Wan J, Carr JR, Kim GW, Jen J. Episodic ataxia caused by a novel spontaneous mutation in the primary voltage sensor of Kv1.1. [abstract] Neurology submitted.
Wan J, Baloh RW, Jen J. Mechanism of action of acetazolamide in the treatment of episodic ataxia type 2. [abstract] Neurology in press.
Book Chapters and Invited Reviews:
Jen J & Stevens CF, Neuromodulation of non-NMDA class glutamate receptor channels in hippocampal neurons, in Teichberg VI & Turski L (eds): Excitatory Amino Acids and Second Messenger Systems. Springer-Verlag 1991; pp153-168.
Jen J. Calcium channelopathies in the central nervous system. Current Opinions in Neurobiology, 1999; 9: 274-280.
Baloh RW & Jen J: Episodic Ataxia Type 2/ Spinocerebellar Ataxia Type 6. in Klockgether T(ed): Neurological Ataxia. New York, Mercel Dekker Inc. pp 447-467; 2000.
Jen J & Ptacek LJ: Channelopathies: Episodic Disorders of the Nervous System, in Scriver CR, Beaudet AL, Sly WS, Valle D, Vogelstein B, Childs B: The Metabolic and Molecular Bases of Inherited Disease, 8th ed. New York, McGraw-Hill, 2001.
Jen J & Baloh RW: Hereditary Endotheliopathy with Retinopathy, Nephropathy, and Stroke (HERNS), in Bogousslavsky J & Caplan L (eds): Uncommon Causes of Stroke. Cambridge, Cambridge University Press, 2001.
Jen J: Familial Episodic Ataxia and Related Ion Channel Disorders. in Ringel SP (ed): Current Treatment Options in Neurology. Philadelphia, Current Science. 2000; 2(5):429-431.
Jen J & Geschwind DH. Ataxia and Calcium channels- What A Headache! Arch Neurol, 2001; 58(2): 179-180.
Ying SH, Jen JC, Baloh RW. Similar oculomotor phenotypes in episodic ataxia type 2 and spinocerebellar atrophy type 6. Ann N Y Acad Sci. 2001;942:508-9.
Jen J & Baloh RW. Genetics of Episodic Ataxia. in Fahn S & Frucht S (eds): Myoclonus and Paroxysmal Dyskinesia. New York, Lippincott William & Wilkins, in press.
Jen J. Inherited Channelopathies. in Pulst S (ed): Encyclopedia of the Nuerological Sciences. Academic Press, in press.
Jen J & Baloh RW. Episodic and intermittent ataxias. Pulst S. (ed.) Genetics of Movement Disorder, in press.
Jen J. Spinocerebellar Ataxia Type 6. Pulst S. (ed.) Genetics of Movement Disorder, in press.
Baloh RW, Jen JC. Genetics of familial episodic vertigo and ataxia. Ann N Y Acad Sci. 2002; 956: 338-345.
Jen JC, Baloh RW. Genetics of episodic ataxia. Adv Neurol 2002; 89:459-461.
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