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Author Details

Joanna C Jen
university of california los angeles Medical School
1997
99
39
Nevan J Krogan (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
35904745Correction to: Episodic Ataxia Type 1: Natural History and Effect on Quality of Life.Cerebellum2023
37662546Surveying physical therapists' understanding of benign paroxysmal positional vertigo.Front Rehabil Sci2023
36336950Erratum to: Bilateral vestibulopathy: Diagnostic criteria Consensus document of the Classification Committee of the Bárány Society.J Vestib Res2023
34044261Novel de novo TREX1 mutation in a patient with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations mimicking demyelinating disease.Mult Scler Relat Disord2021
32887784Lesion evolution and neurodegeneration in RVCL-S: A monogenic microvasculopathy.Neurology2020
32040556CANVAS with cerebellar/sensory/vestibular dysfunction from RFC1 intronic pentanucleotide expansion.Brain2020
31583274A novel <i>PUS7</i> mutation causes intellectual disability with autistic and aggressive behaviors.Neurol Genet2019
29028736SUPERFICIAL AND DEEP CAPILLARY ISCHEMIA AS A PRESENTING SIGN OF RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS.Retin Cases Brief Rep2018
29891059Episodic ataxias.Handb Clin Neurol2018
30062819TREX1 is expressed by microglia in normal human brain and increases in regions affected by ischemia.Brain Pathol2018
29478597Episodic ataxias.Handb Clin Neurol2018
27829685Late-onset episodic ataxia associated with SLC1A3 mutation.J Hum Genet2017
28475896The RNA Exosome Syncs IAV-RNAPII Transcription to Promote Viral Ribogenesis and Infectivity.Cell2017
29081426Bilateral vestibulopathy: Diagnostic criteria Consensus document of the Classification Committee of the Bárány Society.J Vestib Res2017
29066757Impaired K<sup>+</sup> binding to glial glutamate transporter EAAT1 in migraine.Sci Rep2017
28057766Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria.Mol Biol Cell2017
28053271Mutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome in <i>S. cerevisiae</i>.RNA2017
26943780Rare neurological channelopathies--networks to study patients, pathogenesis and treatment.Nat Rev Neurol2016
28262641Vestibular paroxysmia: Diagnostic criteria.J Vestib Res2016
26350538Two cases of rheumatoid meningitis.Neuropathology2016
27604306Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.Brain2016
27543974Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.Brain2016
25938945Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.Nat Genet2015
26527794Evolution of brain lesions in a patient with TREX1 cerebroretinal vasculopathy.Neurology2015
24578548Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.Brain2014
25323666Neuropathology and genetics of cerebroretinal vasculopathies.Brain Pathol2014
24928122Comment: challenges in defining the clinical spectrum of neurogenetic disorders.Neurology2014
23334463Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.Neurogenetics2013
23438480Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7.Prog Neurobiol2013
23284067Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.Neurology2013
22544365Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.Nat Genet2012
22818114Opsoclonus: clinical and immunological features.J Neurol Sci2012
21358195Genetics of vestibulopathies.Adv Otorhinolaryngol2011
21927611Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2.Front Neurol2011
21734179A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.Neurology2011
20820007Neuronal voltage-gated calcium channels: brief overview of their function and clinical implications in neurology.Neurology2010
19139306Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.Arch Neurol2009
19645908Familial episodic ataxia: a model for migrainous vertigo.Ann N Y Acad Sci2009
19834864Bilateral vestibulopathy: clinical, diagnostic, and genetic considerations.Semin Neurol2009
19351654A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism.Hum Mol Genet2009
18081823Phenotypic and genetic analysis of a large family with migraine-associated vertigo.Headache2008
18718292Effects of failure of development of crossing brainstem pathways on ocular motor control.Prog Brain Res2008
18990130Hereditary episodic ataxias.Ann N Y Acad Sci2008
18437043Progressive cerebellar ataxia with variable episodic symptoms--phenotypic diversity of R1668W CACNA1A mutation.Eur Neurol2008
18385989Functional neuroanatomy of the human premotor oculomotor brainstem nuclei: insights from postmortem and advanced in vivo imaging studies.Exp Brain Res2008
17912752Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea.Muscle Nerve2008
18180645Recent advances in the genetics of recurrent vertigo and vestibulopathy.Curr Opin Neurol2008
17481730White matter fiber tractography and color mapping of the normal human cerebellum with diffusion tensor imaging.J Neuroradiol2007
17522101Episodic vertical oscillopsia with progressive gait ataxia: clinical description of a new episodic syndrome and evidence of linkage to chromosome 13q.J Neurol Neurosurg Psychiatry2007
17609999Association of progesterone receptor with migraine-associated vertigo.Neurogenetics2007
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Collaborators

Stanley F Nelson
university of california los angeles
Co-authored papers 19
Yoon Hee Cho
Co-authored papers 6
Daniel H Geschwind
University of California los angeles
Co-authored papers 5
Rune R Frants
Co-authored papers 4
Thomas Deller
Institute of Clinical Neuroanatomy, Goethe University Frankfurt
Co-authored papers 4
Chiara Sabatti
Co-authored papers 4
Michel D Ferrari
Leiden University Medical Center
Co-authored papers 4
Arn M J M van den Maagdenberg
Leiden University Medical Center
Co-authored papers 4
Noriko Salamon
David Geffen School of Medicine, University of California Los Angeles
Co-authored papers 3
Luitgard Graul-Neumann
Charite Universitaetsmedizin Berlin
Co-authored papers 2
David W Shattuck
David Geffen School of Medicine at university of california los angeles
Co-authored papers 2
Zugen Chen
David Geffen School of Medicine, University of California los angeles
Co-authored papers 2
Angel Carracedo
Co-authored papers 2
Giovanni Coppola
David Geffen School of Medicine, University of California los angeles
Co-authored papers 2
Eugen Boltshauser
Children's University Hospital
Co-authored papers 2
Randy A Albrecht
Icahn School of Medicine at Mount Sinai
Co-authored papers 1
Natasha Moshkina
Icahn School of Medicine at Mount Sinai
Co-authored papers 1
Nevan J Krogan (CM4AI)
University of California San Francisco
Co-authored papers 1
David Schiff
University of Virginia School of Medicine
Co-authored papers 1
Evangelos Pefanis
Regeneron Pharmaceuticals, Inc.
Co-authored papers 1
Judd F Hultquist
Northwestern University Feinberg School of Medicine
Co-authored papers 1
Alexander Rialdi
Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai
Co-authored papers 1
Robyn M Kaake
J. David Gladstone Institutes
Co-authored papers 1
Brice Laffleur
Inserm UMR U 1236, University of Rennes, INSERM
Co-authored papers 1
Kelsey M Haas
J. David Gladstone Institutes
Co-authored papers 1
David Millett
Co-authored papers 1
Maja Steinlin
Children's University Hospital, Bern University Hospital, University of Bern
Co-authored papers 1
Ajay A Vashisht
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Release 1.2