Affiliation: University of California
Jen J, Kim G, Baloh R. Clinical spectrum of episodic ataxia type 2. Neurology. 2004;62:17-22 pubmed
..Overall, the type of mutation, missense versus nonsense, or the location of altered or truncated amino acid residues did not predict the clinical phenotype. ..
Jen J, Wang H, Lee H, Sabatti C, Trent R, Hannigan I, et al
. Suggestive linkage to chromosome 6q in families with bilateral vestibulopathy. Neurology. 2004;63:2376-9 pubmed
..This is the first report of linkage in families with dominantly inherited vestibulopathy and normal hearing. Genetic heterogeneity is likely with inherited vestibulopathy. ..
Jen J, Lee H, Cha Y, Nelson S, Baloh R. Genetic heterogeneity of autosomal dominant nonprogressive congenital ataxia. Neurology. 2006;67:1704-6 pubmed
..1-35.3, 7q36.2-36.3, and 9q31.2-32 and ruled out linkage to the NPCA locus on 3p, proving genetic heterogeneity for autosomal dominant NPCA. ..
Jen J, Wan J. Episodic ataxias. Handb Clin Neurol. 2018;148:521-529 pubmed publisher
..EA1, EA2, and EA6 are caused by mutations in ion channel- and transporter-encoding genes that regulate neuronal excitability and neurotransmission. ..
Jen J, Wan J, Graves M, Yu H, Mock A, Coulin C, et al
. Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. Neurology. 2001;57:1843-8 pubmed
..To examine the functional consequences of episodic ataxia type 2 (EA2)-causing nonsense and missense mutations in vitro and to characterize the basis of fluctuating weakness in patients with E2A...
Jen J, Coulin C, Bosley T, Salih M, Sabatti C, Nelson S, et al
. Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25. Neurology. 2002;59:432-5 pubmed
..Genomewide homozygosity mapping and linkage analysis mapped the disease locus to a 30-cM interval on chromosome 11q23-25 (combined maximum multipoint lod score Z = 5.46). ..
Jen J, Chan W, Bosley T, Wan J, Carr J, Rüb U, et al
. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science. 2004;304:1509-13 pubmed
..Like its murine homolog Rig1/Robo3, but unlike other Robo proteins, ROBO3 is required for hindbrain axon midline crossing. ..
Jen J. Recent advances in the genetics of recurrent vertigo and vestibulopathy. Curr Opin Neurol. 2008;21:3-7 pubmed publisher
..To focus on recent advances in the genetics of recurrent vertigo, with an overview on episodic ataxia, benign recurrent vertigo (mainly migraine-associated vertigo), bilateral vestibulopathy, and Ménière's disease...
Jen J. Bilateral vestibulopathy: clinical, diagnostic, and genetic considerations. Semin Neurol. 2009;29:528-33 pubmed publisher
..Furthermore, the study of bilateral vestibulopathy may shed light on the pathophysiology of more common vestibular syndromes such as benign recurrent vertigo and vestibular migraine...