multiWGCNA: an R package for deep mining gene co-expression networks in multi-trait expression data

por Tommasini, Dario, Fogel, Brent L.
Publicado 2023

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

por Fan, Judy, Fogel, Brent L.
Publicado 2018

Acute pharmacogenetic dystonic reactions in a family with the CYP2D6 *41 allele: a case report

por Wong, Darice Y., Fogel, Brent L.
Publicado 2021

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

por Fogel, Brent L., Lee, Ji Yong, Perlman, Susan
Publicado 2009

Spinocerebellar Ataxia type 29 in a family of Māori descent

por Ngo, Kathie J., Poke, Gemma, Neas, Katherine, Fogel, Brent L.
Publicado 2019

Alterations in oligodendrocyte transcriptional networks reveal region-specific vulnerabilities to neurological disease

por Tommasini, Dario, Fox, Rachel, Ngo, Kathie J., Hinman, Jason D., Fogel, Brent L.
Publicado 2023

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

por Paucar, Martin, Taylor, Alexander M.R., Hadjivassiliou, Marios, Fogel, Brent L., Svenningsson, Per
Publicado 2019

Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report

por Duggirala, Niharika, Ngo, Kathie J., Pagnoni, Sabrina M., Rosa, Alberto L., Fogel, Brent L.
Publicado 2023

Candidate Screening of the TRPC3 Gene in Cerebellar Ataxia

por Becker, Esther B. E., Fogel, Brent L., Rajakulendran, Sanjeev, Dulneva, Anna, Hanna, Michael G., Perlman, Susan L., Geschwind, Daniel H., Davies, Kay E.
Publicado 2011

A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation

por Xiao, Changrui, Binkley, Elaine M., Rexach, Jessica, Knight-Johnson, Amy, Khemani, Pravin, Fogel, Brent L., Das, Soma, Stone, Edwin M., Gomez, Christopher M.
Publicado 2019

De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy

por Hadjinicolaou, Aristides, Ngo, Kathie J., Conway, Daniel Y., Provias, John P., Baker, Steven K., Brady, Lauren I., Bennett, Craig L., La Spada, Albert R., Fogel, Brent L., Yoon, Grace
Publicado 2021

Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort

por Aboud Syriani, Dona, Wong, Darice, Andani, Sameer, De Gusmao, Claudio M., Mao, Yuanming, Sanyoura, May, Glotzer, Giacomo, Lockhart, Paul J., Hassin-Baer, Sharon, Khurana, Vikram, Gomez, Christopher M., Perlman, Susan, Das, Soma, Fogel, Brent L.
Publicado 2020

Expanding the global prevalence of spinocerebellar ataxia type 42

por Ngo, Kathie, Aker, Mamdouh, Petty, Lauren E., Chen, Jason, Cavalcanti, Francesca, Nelson, Alexandra B., Hassin-Baer, Sharon, Geschwind, Michael D., Perlman, Susan, Italiano, Domenico, Laganà, Angelina, Cavallaro, Sebastiano, Coppola, Giovanni, Below, Jennifer E., Fogel, Brent L.
Publicado 2018

Prevalence of spinocerebellar ataxia 36 in a US population

por Valera, Juliana M., Diaz, Tatyana, Petty, Lauren E., Quintáns, Beatriz, Yáñez, Zuleima, Boerwinkle, Eric, Muzny, Donna, Akhmedov, Dmitry, Berdeaux, Rebecca, Sobrido, Maria J., Gibbs, Richard, Lupski, James R., Geschwind, Daniel H., Perlman, Susan, Below, Jennifer E., Fogel, Brent L.
Publicado 2017

Lack of Association Between GBA Mutations and Motor Complications in European and American Parkinson’s Disease Cohorts

por Maple-Grødem, Jodi, Paul, Kimberly C., Dalen, Ingvild, Ngo, Kathie J., Wong, Darice, Macleod, Angus D., Counsell, Carl E., Bäckström, David, Forsgren, Lars, Tysnes, Ole-Bjørn, Kusters, Cynthia D.J., Fogel, Brent L., Bronstein, Jeff M., Ritz, Beate, Alves, Guido
Publicado 2021

Novel NUDT2 variant causes intellectual disability and polyneuropathy

por Diaz, Frank, Khosa, Shaweta, Niyazov, Dmitriy, Lee, Hane, Person, Richard, Morrow, Michelle M., Signer, Rebecca, Dorrani, Naghmeh, Zheng, Allison, Herzog, Matthew, Freundlich, Robert, Birath, J. Brandon, Cervantes‐Manzo, Yurivia, Martinez‐Agosto, Julian A., Palmer, Christina, Nelson, Stanley F., Fogel, Brent L., Mishra, Shri K.
Publicado 2020

Toward a biomarker panel measured in CNS-originating extracellular vesicles for improved differential diagnosis of Parkinson’s disease and multiple system atrophy

por Taha, Hash Brown, Hornung, Simon, Dutta, Suman, Fenwick, Leony, Lahgui, Otmane, Howe, Kathryn, Elabed, Nour, del Rosario, Irish, Wong, Darice Y., Duarte Folle, Aline, Markovic, Daniela, Palma, Jose-Alberto, Kang, Un Jung, Alcalay, Roy N., Sklerov, Miriam, Kaufmann, Horacio, Fogel, Brent L., Bronstein, Jeff M., Ritz, Beate, Bitan, Gal
Publicado 2023

Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates

por Schoenmakers, Daphne H., Leferink, Prisca S., Vanderver, Adeline, Bonkowsky, Joshua L., Krägeloh-Mann, Ingeborg, Bernard, Geneviève, Bertini, Enrico, Fatemi, Ali, Fogel, Brent L., Wolf, Nicole I., Skwirut, Donna, Buck, Allyson, Holberg, Brett, Saunier-Vivar, Elise F., Rauner, Robert, Dekker, Hanka, van Bokhoven, Pieter, Stellingwerff, Menno D., Berkhof, Johannes, van der Knaap, Marjo S.
Publicado 2023

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

por Zambonin, Jessica L., Bellomo, Allison, Ben-Pazi, Hilla, Everman, David B., Frazer, Lee M., Geraghty, Michael T., Harper, Amy D., Jones, Julie R., Kamien, Benjamin, Kernohan, Kristin, Koenig, Mary Kay, Lines, Matthew, Palmer, Elizabeth Emma, Richardson, Randal, Segel, Reeval, Tarnopolsky, Mark, Vanstone, Jason R., Gibbons, Melissa, Collins, Abigail, Fogel, Brent L., Dudding-Byth, Tracy, Boycott, Kym M.
Publicado 2017

α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson’s disease from multiple system atrophy

por Dutta, Suman, Hornung, Simon, Kruayatidee, Adira, Maina, Katherine N., del Rosario, Irish, Paul, Kimberly C., Wong, Darice Y., Duarte Folle, Aline, Markovic, Daniela, Palma, Jose-Alberto, Serrano, Geidy E., Adler, Charles H., Perlman, Susan L., Poon, Wayne W., Kang, Un Jung, Alcalay, Roy N., Sklerov, Miriam, Gylys, Karen H., Kaufmann, Horacio, Fogel, Brent L., Bronstein, Jeff M., Ritz, Beate, Bitan, Gal
Publicado 2021