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List of works by Joanna C Jen

A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism

scientific article published on 7 April 2009

A Chemical Biology Approach to Model Pontocerebellar Hypoplasia Type 1B (PCH1B).

scientific article published on 6 September 2018

A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity

scientific article published on 5 December 2005

A new episodic ataxia syndrome with linkage to chromosome 19q13.

scientific article published in May 2007

A novel PUS7 mutation causes intellectual disability with autistic and aggressive behaviors

scientific article published on 04 September 2019

A novel mutation in KCNA1 causes episodic ataxia without myokymia

scientific article

A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia

scientific article (publication date: 13 July 1999)

Association of progesterone receptor with migraine-associated vertigo

scientific article

Bilateral vestibulopathy: Diagnostic criteria Consensus document of the Classification Committee of the Bárány Society

scientific article published in January 2017

Bilateral vestibulopathy: clinical, diagnostic, and genetic considerations

scientific article published on 15 October 2009

Blessed are the pacemakers

scientific article published in March 2006

C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

scientific article

CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics

scientific article

CANVAS with cerebellar/sensory/vestibular dysfunction from RFC1 intronic pentanucleotide expansion

scientific article published on 01 February 2020

Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene).

scientific article

Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7.

scientific article published on 21 February 2013

Comment: challenges in defining the clinical spectrum of neurogenetic disorders

scientific article published on 13 June 2014

De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia ⬇️

scientific article published on May 26, 1998

Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene

scientific article

Differential subcellular immunolocalization of voltage-gated calcium channel alpha1 subunits in the chinchilla cristae ampullaris

scientific article published on January 1999

Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations

scientific article published in August 2006

Effects of failure of development of crossing brainstem pathways on ocular motor control

scientific article published in January 2008

Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake

scientific article

Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation

scientific article published on 26 February 2014

Episodic ataxias

scientific article published on 01 January 2018

Episodic ataxias

scientific article published in January 2018

Episodic vertical oscillopsia with progressive gait ataxia: clinical description of a new episodic syndrome and evidence of linkage to chromosome 13q.

scientific article

Evolution of brain lesions in a patient with TREX1 cerebroretinal vasculopathy

scientific article

Familial benign recurrent vertigo

scientific article published in May 2001

Familial episodic ataxia: a model for migrainous vertigo

scientific article published in May 2009

Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25

scientific article (publication date: 13 August 2002)

Familial migraine with vertigo: No mutations found in CACNA1A ⬇️

scientific article published on September 1, 1998

Functional neuroanatomy of the human premotor oculomotor brainstem nuclei: insights from postmortem and advanced in vivo imaging studies

scientific article

Genetic heterogeneity of autosomal dominant nonprogressive congenital ataxia

scientific article

Genetics of Vestibulopathies ⬇️

scientific article published on February 24, 2011

Genetics of episodic ataxia

scientific article

Genetics of familial episodic vertigo and ataxia

scientific article

Hereditary endotheliopathy with retinopathy, nephropathy, and stroke(HERNS) ⬇️

scientific article published on November 1, 1997

Hereditary episodic ataxias

scientific article published on October 2008

Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3

scientific article

Impaired K+ binding to glial glutamate transporter EAAT1 in migraine

scientific article published on 24 October 2017

Internuclear ophthalmoparesis in episodic ataxia type 2.

scientific article published in April 2005

Large genomic deletions in CACNA1A cause episodic ataxia type 2 ⬇️

scientific article published on September 9, 2011

Late-onset episodic ataxia associated with SLC1A3 mutation.

scientific article published on 10 November 2016

Late-onset pure cerebellar ataxia: differentiating those with and without identifiable mutations

scientific article

Lesion evolution and neurodegeneration in RVCL-S: A monogenic microvasculopathy

scientific article published on 04 September 2020

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

scientific article

Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission

scientific article (publication date: 27 November 2001)

Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures

scientific article

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

scientific article

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

scientific article

Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis

scientific article

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

scientific article

Mutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome in S. cerevisiae

scientific article published on 04 January 2017

Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3

scientific article (publication date: 12 April 2005)

Neuronal voltage-gated calcium channels: brief overview of their function and clinical implications in neurology

scientific article published on 01 September 2010

Neuropathology and genetics of cerebroretinal vasculopathies

scientific article

Neurotological findings in a family with episodic ataxia ⬇️

scientific article published on 01 March 2003

No mutations in CACNA1A and ATP1A2 in probands with common types of migraine

scientific article

Nonconsensus intronic mutations cause episodic ataxia.

scientific article published in January 2005

Novel CCM1 mutation in a patient with paraparesis and thoracic cord cavernous malformation

scientific article published in September 2005

Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea

scientific article

Ocular motility in genetically defined autosomal dominant cerebellar ataxia

scientific article

Oculomotor phenotypes in autosomal dominant ataxias

scientific article

Opsoclonus: clinical and immunological features

scientific article

Phenotypic and genetic analysis of a large family with migraine-associated vertigo

scientific article

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations

scientific article published on 2 January 2013

Progressive Ataxia Due to a Missense Mutation in a Calcium-Channel Gene ⬇️

scientific article published on November 1, 1997

Progressive cerebellar ataxia with variable episodic symptoms--phenotypic diversity of R1668W CACNA1A mutation

scientific article published on 25 April 2008

Prolonged hemiplegic episodes in children due to mutations in ATP1A2.

scientific article

Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria

scientific article published on 05 January 2017

Rare neurological channelopathies--networks to study patients, pathogenesis and treatment

scientific article published on 4 March 2016

Recent advances in the genetics of recurrent vertigo and vestibulopathy

scientific article

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

scientific article published on 6 September 2016

SUPERFICIAL AND DEEP CAPILLARY ISCHEMIA AS A PRESENTING SIGN OF RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS.

scientific article

Similar oculomotor phenotypes in episodic ataxia type 2 and spinocerebellar atrophy type 6.

scientific article

Slowing of voluntary and involuntary saccades: an early sign in spinocerebellar ataxia type 7.

scientific article published in June 2001

Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia ⬇️

scientific article published on October 1, 1998

Suggestive linkage to chromosome 6q in families with bilateral vestibulopathy

scientific article published in December 2004

TREX1 is expressed by microglia in normal human brain and increases in regions affected by ischemia.

scientific article published on 10 October 2018

Temporal bone histopathology in dominantly inherited audiovestibular syndrome

scientific article published in November 2004

The RNA Exosome Syncs IAV-RNAPII Transcription to Promote Viral Ribogenesis and Infectivity

scientific article published on May 2017

Three brothers with a very-late-onset writer's cramp

scientific article published in October 2005

Two cases of rheumatoid meningitis.

scientific article

Vestibular paroxysmia: Diagnostic criteria

scientific article published in January 2016

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