De Novo Mutations in Patients with Ataxic CP

ανά Agarwal, Sonika, Emrick, Lisa
Τόπος έκδοσης Pediatr Neurol Briefs (2015)

The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome()

ανά El-Hattab, Ayman W., Emrick, Lisa T., Williamson, Kaitlin C., Craigen, William J., Scaglia, Fernando
Έκδοση 2013

EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease

ανά Calame, Daniel G., Hainlen, Meagan, Takacs, Danielle, Ferrante, Leah, Pence, Kayla, Emrick, Lisa T., Chao, Hsiao-Tuan
Τόπος έκδοσης Neurol Genet (2020)

Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation

ανά El-Hattab, Ayman W., Emrick, Lisa T., Hsu, Jean W., Chanprasert, Sirisak, Jahoor, Farook, Scaglia, Fernando, Craigen, William J.
Τόπος έκδοσης Mitochondrion (2014)

Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation

ανά El-Hattab, Ayman W., Hsu, Jean W., Emrick, Lisa T., Wong, Lee-Jun C., Craigen, William J., Jahoor, Farook, Scaglia, Fernando
Έκδοση 2012

Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation

ανά El-Hattab, Ayman W., Emrick, Lisa T, Hsu, Jean W., Chanprasert, Sirisak, Almannai, Mohammed, Craigen, William J., Jahoor, Farook, Scaglia, Fernando
Τόπος έκδοσης Mol Genet Metab (2016)

Prenatal Diagnosis of CLOVES Syndrome Confirmed by Detection of a Mosaic PIK3CA Mutation in Cultured Amniocytes

ανά Emrick, Lisa T., Murphy, Lauren, Shamshirsaz, Alireza A., Ruano, Rodrigo, Cassady, Christopher I., Liu, Liu, Chang, Fengqi, Sutton, V. Reid, Li, Marilyn, Van den Veyver, Ignatia B.
Τόπος έκδοσης Am J Med Genet A (2014)

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation

ανά Ng, Bobby G., Rosenfeld, Jill A., Emrick, Lisa, Jain, Mahim, Burrage, Lindsay C., Lee, Brendan, Craigen, William J., Bearden, David R., Graham, Brett H., Freeze, Hudson H.
Τόπος έκδοσης Am J Hum Genet (2018)

2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

ανά Kennedy, Adam D., Pappan, Kirk L., Donti, Taraka, Delgado, Mauricio R., Shinawi, Marwan, Pearson, Toni S., Lalani, Seema R., Craigen, William J., Sutton, V. Reid, Evans, Anne M., Sun, Qin, Emrick, Lisa T., Elsea, Sarah H.
Τόπος έκδοσης Front Neurosci (2019)

Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

ανά Kennedy, Adam D., Pappan, Kirk L., Donti, Taraka, Delgado, Mauricio R., Shinawi, Marwan, Pearson, Toni S., Lalani, Seema R., Craigen, William J., Sutton, V. Reid, Evans, Anne M., Sun, Qin, Emrick, Lisa T., Elsea, Sarah H.
Τόπος έκδοσης Front Neurosci (2020)

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

ανά Donti, Taraka R., Cappuccio, Gerarda, Hubert, Leroy, Neira, Juanita, Atwal, Paldeep S., Miller, Marcus J., Cardon, Aaron L., Sutton, V. Reid, Porter, Brenda E., Baumer, Fiona M., Wangler, Michael F., Sun, Qin, Emrick, Lisa T., Elsea, Sarah H.
Τόπος έκδοσης Mol Genet Metab Rep (2016)

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: Further delineation of the 17p13.3 microdeletion spectrum

ανά Emrick, Lisa T., Rosenfeld, Jill A., Lalani, Seema R., Jain, Mahim, Desai, Nilesh K., Larson, Austin, Kripps, Kimberly, Vanderver, Adeline, Taft, Ryan J, Bluske, Krista, Denise, Perry, Nagakura, Honey, Immken, LaDonna L., Burrage, Lindsay C., Bacino, Carlos A., Belmont, John W., Lee, Brendan
Τόπος έκδοσης Genet Med (2018)

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

ανά Karaa, Amel, Rahman, Shamima, Lombès, Anne, Yu-Wai-Man, Patrick, Sheikh, Muniza K., Alai-Hansen, Sherita, Cohen, Bruce H., Dimmock, David, Emrick, Lisa, Falk, Marni J., McCormack, Shana, Mirsky, David, Moore, Tony, Parikh, Sumit, Shoffner, John, Taivassalo, Tanja, Tarnopolsky, Mark, Tein, Ingrid, Odenkirchen, Joanne C., Goldstein, Amy
Τόπος έκδοσης J Inherit Metab Dis (2017)

Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

ανά Karaa, Amel, Rahman, Shamima, Lombès, Anne, Yu-Wai-Man, Patrick, Sheikh, Muniza K., Alai-Hansen, Sherita, Cohen, Bruce H., Dimmock, David, Emrick, Lisa, Falk, Marni J., McCormack, Shana, Mirsky, David, Moore, Tony, Parikh, Sumit, Shoffner, John, Taivassalo, Tanja, Tarnopolsky, Mark, Tein, Ingrid, Odenkirchen, Joanne C., Goldstein, Amy
Τόπος έκδοσης J Inherit Metab Dis (2018)

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

ανά Luo, Xi, Rosenfeld, Jill A., Yamamoto, Shinya, Harel, Tamar, Zuo, Zhongyuan, Hall, Melissa, Wierenga, Klaas J., Pastore, Matthew T., Bartholomew, Dennis, Delgado, Mauricio R., Rotenberg, Joshua, Lewis, Richard Alan, Emrick, Lisa, Bacino, Carlos A., Eldomery, Mohammad K., Coban Akdemir, Zeynep, Xia, Fan, Yang, Yaping, Lalani, Seema R., Lotze, Timothy, Lupski, James R., Lee, Brendan, Bellen, Hugo J., Wangler, Michael F.
Τόπος έκδοσης PLoS Genet (2017)

Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders

ανά Vanderver, Adeline, Bernard, Geneviève, Helman, Guy, Sherbini, Omar, Boeck, Ryan, Cohn, Jeffrey, Collins, Abigail, Demarest, Scott, Dobbins, Katherine, Emrick, Lisa, Fraser, Jamie L., Masser-Frye, Diane, Hayward, Jean, Karmarkar, Swati, Keller, Stephanie, Mirrop, Samuel, Mitchell, Wendy, Pathak, Sheel, Sherr, Elliott, van Haren, Keith, Waters, Erica, Wilson, Jenny L., Zhorne, Leah, Schiffmann, Raphael, van der Knaap, Marjo S., Pizzino, Amy, Dubbs, Holly, Shults, Justine, Simons, Cas, Taft, Ryan J.
Τόπος έκδοσης Ann Neurol (2020)

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes

ανά Sun, Chong, Song, Jie, Jiang, Yanjun, Zhao, Chongbo, Lu, Jiahong, Li, Yuxin, Wang, Yin, Gao, Mingshi, Xi, Jianying, Luo, Sushan, Li, Meixia, Donaldson, Kevin, Oprescu, Stephanie N., Slavin, Thomas P., Lee, Sansan, Magoulas, Pilar L., Lewis, Andrea M., Emrick, Lisa, Lalani, Seema R., Niu, Zhiyv, Landsverk, Megan L., Walkiewicz, Magdalena, Person, Richard E., Mei, Hui, Rosenfeld, Jill A., Yang, Yaping, Antonellis, Anthony, Hou, Ya-Ming, Lin, Jie, Zhang, Victor W.
Τόπος έκδοσης Neurol Genet (2019)

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

ανά Poli, M. Cecilia, Ebstein, Frédéric, Nicholas, Sarah K., de Guzman, Marietta M., Forbes, Lisa R., Chinn, Ivan K., Mace, Emily M., Vogel, Tiphanie P., Carisey, Alexandre F., Benavides, Felipe, Coban-Akdemir, Zeynep H., Gibbs, Richard A., Jhangiani, Shalini N., Muzny, Donna M., Carvalho, Claudia M.B., Schady, Deborah A., Jain, Mahim, Rosenfeld, Jill A., Emrick, Lisa, Lewis, Richard A., Lee, Brendan, Zieba, Barbara A., Küry, Sébastien, Krüger, Elke, Lupski, James R., Bostwick, Bret L., Orange, Jordan S.
Τόπος έκδοσης Am J Hum Genet (2018)

RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum

ανά Mendes, Marisa I., Green, Lydia M. C., Bertini, Enrico, Tonduti, Davide, Aiello, Chiara, Smith, Desiree, Salsano, Ettore, Beerepoot, Shanice, Hertecant, Jozef, von Spiczak, Sarah, Livingston, John H., Emrick, Lisa, Fraser, Jamie, Russell, Laura, Bernard, Genevieve, Magri, Stefania, Di Bella, Daniela, Taroni, Franco, Koenig, Mary K., Moroni, Isabella, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Rhee, Jullie, Mendelsohn, Bryce A., Helbig, Ingo, Helbig, Katherine, Muhle, Hiltrud, Ismayl, Omar, Vanderver, Adeline L., Salomons, Gajja S., van der Knaap, Marjo S., Wolf, Nicole I.
Τόπος έκδοσης Ann Clin Transl Neurol (2019)

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

ανά Mao, Dongxue, Reuter, Chloe M., Ruzhnikov, Maura R.Z., Beck, Anita E., Farrow, Emily G., Emrick, Lisa T., Rosenfeld, Jill A., Mackenzie, Katherine M., Robak, Laurie, Wheeler, Matthew T., Burrage, Lindsay C., Jain, Mahim, Liu, Pengfei, Calame, Daniel, Küry, Sébastien, Sillesen, Martin, Schmitz-Abe, Klaus, Tonduti, Davide, Spaccini, Luigina, Iascone, Maria, Genetti, Casie A., Koenig, Mary K., Graf, Madeline, Tran, Alyssa, Alejandro, Mercedes, Lee, Brendan H., Thiffault, Isabelle, Agrawal, Pankaj B., Bernstein, Jonathan A., Bellen, Hugo J., Chao, Hsiao-Tuan
Τόπος έκδοσης Am J Hum Genet (2020)