Childhood Cerebellar Ataxia

Tekijä Fogel, Brent L.
Julkaistu 2012

INTERPRETATION OF GENETIC TESTING: VARIANTS OF UNKNOWN SIGNIFICANCE

Tekijä Fogel, Brent L.
Julkaistu 2011

Collaborative Science Unites Researchers and a Novel Spastic Ataxia Gene

Tekijä Fogel, Brent L.
Julkaisussa Ann Neurol (2018)

A Family with Spinocerebellar Ataxia Type 5 Found to Have a Novel Missense Mutation Within a SPTBN2 Spectrin Repeat

Tekijä Cho, Ellen, Fogel, Brent L.
Julkaistu 2013

Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency

Tekijä Fan, Judy, Fogel, Brent L.
Julkaisussa Cerebellum Ataxias (2018)

Autosomal Dominant Spinocerebellar Ataxia

Tekijä Shakkottai, Vikram G., Fogel, Brent L.
Julkaistu 2013

Aberrant Splicing of the Senataxin Gene in a Patient with Ataxia with Oculomotor Apraxia Type 2

Tekijä Fogel, Brent L., Lee, Ji Yong, Perlman, Susan
Julkaistu 2009

The need to develop a patient-centered precision medicine model for adults with chronic disability

Tekijä Wolf, Susan M., Thyagarajan, Bharat, Fogel, Brent L.
Julkaisussa Expert Rev Mol Diagn (2017)

The Neurogenetics of Atypical Parkinsonian Disorders

Tekijä Fogel, Brent L., Clark, Mary C., Geschwind, Daniel H.
Julkaisussa Semin Neurol (2014)

Clinical exome sequencing in neurologic disease: AAN model coverage policy

Tekijä Fogel, Brent L., Satya-Murti, Saty, Cohen, Bruce H.
Julkaisussa Neurol Clin Pract (2016)

ELAVL2-regulated transcriptional and splicing networks in human neurons link neurodevelopment and autism

Tekijä Berto, Stefano, Usui, Noriyoshi, Konopka, Genevieve, Fogel, Brent L.
Julkaisussa Hum Mol Genet (2016)

Efficient polyadenylation of Rous sarcoma virus RNA requires the negative regulator of splicing element

Tekijä Fogel, Brent L., McNally, Lisa M., McNally, Mark T.
Julkaistu 2002

Do Mutations in the Murine Ataxia Gene TRPC3 Cause Cerebellar Ataxia in Humans?

Tekijä Fogel, Brent L., Hanson, Sonya M., Becker, Esther B. E.
Julkaisussa Mov Disord (2014)

Spinocerebellar Ataxia type 29 in a family of Māori descent

Tekijä Ngo, Kathie J., Poke, Gemma, Neas, Katherine, Fogel, Brent L.
Julkaisussa Cerebellum Ataxias (2019)

Orchestration of Neurodevelopmental Programs by RBFOX1: Implications for Autism Spectrum Disorder

Tekijä Bill, Brent R., Lowe, Jennifer K., DyBuncio, Christina T., Fogel, Brent L.
Julkaisussa Int Rev Neurobiol (2013)

Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature

Tekijä Paucar, Martin, Taylor, Alexander M.R., Hadjivassiliou, Marios, Fogel, Brent L., Svenningsson, Per
Julkaisussa Tremor Other Hyperkinet Mov (N Y) (2019)

Utilization of Genetic Testing Prior to Subspecialist Referral for Cerebellar Ataxia

Tekijä Fogel, Brent L., Vickrey, Barbara G., Walton-Wetzel, Jenny, Lieber, Eli, Browner, Carole H.
Julkaistu 2013

Clinical exome sequencing in neurogenetic and neuropsychiatric disorders

Tekijä Fogel, Brent L., Lee, Hane, Strom, Samuel P., Deignan, Joshua L., Nelson, Stanley F.
Julkaisussa Ann N Y Acad Sci (2015)

Clinical application of next-generation sequencing to the practice of neurology

Tekijä Rexach, Jessica, Lee, Hane, Martinez-Agosto, Julian A, Németh, Andrea H, Fogel, Brent L
Julkaisussa Lancet Neurol (2019)

C9ORF72 Expansion is Not a Significant Cause of Sporadic Spinocerebellar Ataxia

Tekijä Fogel, Brent L., Pribadi, Mochtar, Pi, Sarah, Perlman, Susan L., Geschwind, Daniel H., Coppola, Giovanni
Julkaistu 2012