Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options

Por El-Hattab, Ayman W., Scaglia, Fernando
Publicado em 2013

Mitochondrial Cardiomyopathies

Por El-Hattab, Ayman W., Scaglia, Fernando
Publicado no Front Cardiovasc Med (2016)

Chromosome 15q24 microdeletion syndrome

Por Magoulas Pilar L, El-Hattab Ayman W
Publicado em 2012-01-01

Chromosome 15q24 microdeletion syndrome

Por Magoulas, Pilar L, El-Hattab, Ayman W
Publicado em 2012

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management

Por Magoulas, Pilar L, El-Hattab, Ayman W
Publicado em 2012

N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra

Por Al Kaabi, Eiman H., El-Hattab, Ayman W.
Publicado no Mol Genet Metab Rep (2016)

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

Por El-Hattab, Ayman W., Emrick, Lisa T., Williamson, Kaitlin C., Craigen, William J., Scaglia, Fernando
Publicado em 2013

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

Por El-Hattab, Ayman W., Emrick, Lisa T., Hsu, Jean W., Chanprasert, Sirisak, Jahoor, Farook, Scaglia, Fernando, Craigen, William J.
Publicado no Mitochondrion (2014)

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

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

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

Por El-Hattab, Ayman W., Emrick, Lisa T, Hsu, Jean W., Chanprasert, Sirisak, Almannai, Mohammed, Craigen, William J., Jahoor, Farook, Scaglia, Fernando
Publicado no Mol Genet Metab (2016)

Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review

Por El-Hattab, Ayman W, Schaaf, Christian P, Fang, Ping, Roeder, Elizabeth, Kimonis, Virginia E, Church, Joseph A, Patel, Ankita, Cheung, Sau Wai
Publicado no BMC Med Genet (2015)

Clinical Pertinence Metric Enables Hypothesis-Independent Genome-Phenome Analysis for Neurologic Diagnosis

Por Segal, Michael M., Abdellateef, Mostafa, El-Hattab, Ayman W., Hilbush, Brian S., De La Vega, Francisco M., Tromp, Gerard, Williams, Marc S., Betensky, Rebecca A., Gleeson, Joseph
Publicado no J Child Neurol (2015)

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping

Por El-Hattab, Ayman W., Smolarek, Teresa A., Walker, Martha E., Schorry, Elizabeth K., Immken, LaDonna L., Patel, Gayle, Abbott, Mary-Alice, Lanpher, Brendan C., Ou, Zhishuo, Kang, Sung-Hae L., Patel, Ankita, Scaglia, Fernando, Lupski, James R., Cheung, Sau Wai, Stankiewicz, Pawel
Publicado em 2009

Clinical, Pathological and Mutational Spectrum of Dystroglycanopathy Due to LARGE Mutations

Por Meilleur, Katherine G., Zukosky, Kristen, Medne, Livija, Fequiere, Pierre, Powell-Hamilton, Nina, Winder, Thomas L., Alsaman, Abdulaziz, El-Hattab, Ayman W., Dastgir, Jahannaz, Hu, Ying, Donkervoort, Sandra, Golden, Jeffrey A., Eagle, Ralph, Finkel, Richard, Scavina, Mena, Hood, Ian C., Rorke-Adams, Lucy B., Bönnemann, Carsten G.
Publicado no J Neuropathol Exp Neurol (2014)

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

Por Harel, Tamar, Yesil, Gozde, Bayram, Yavuz, Coban-Akdemir, Zeynep, Charng, Wu-Lin, Karaca, Ender, Al Asmari, Ali, Eldomery, Mohammad K., Hunter, Jill V., Jhangiani, Shalini N., Rosenfeld, Jill A., Pehlivan, Davut, El-Hattab, Ayman W., Saleh, Mohammed A., LeDuc, Charles A., Muzny, Donna, Boerwinkle, Eric, Gibbs, Richard A., Chung, Wendy K., Yang, Yaping, Belmont, John W., Lupski, James R.
Publicado no Am J Hum Genet (2016)

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

Por Charng, Wu-Lin, Karaca, Ender, Coban Akdemir, Zeynep, Gambin, Tomasz, Atik, Mehmed M., Gu, Shen, Posey, Jennifer E., Jhangiani, Shalini N., Muzny, Donna M., Doddapaneni, Harsha, Hu, Jianhong, Boerwinkle, Eric, Gibbs, Richard A., Rosenfeld, Jill A., Cui, Hong, Xia, Fan, Manickam, Kandamurugu, Yang, Yaping, Faqeih, Eissa A., Al Asmari, Ali, Saleh, Mohammed A. M., El-Hattab, Ayman W., Lupski, James R.
Publicado no BMC Med Genomics (2016)

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

Por Bayram, Yavuz, Karaca, Ender, Coban Akdemir, Zeynep, Yilmaz, Elif Ozdamar, Tayfun, Gulsen Akay, Aydin, Hatip, Torun, Deniz, Bozdogan, Sevcan Tug, Gezdirici, Alper, Isikay, Sedat, Atik, Mehmed M., Gambin, Tomasz, Harel, Tamar, El-Hattab, Ayman W., Charng, Wu-Lin, Pehlivan, Davut, Jhangiani, Shalini N., Muzny, Donna M., Karaman, Ali, Celik, Tamer, Yuregir, Ozge Ozalp, Yildirim, Timur, Bayhan, Ilhan A., Boerwinkle, Eric, Gibbs, Richard A., Elcioglu, Nursel, Tuysuz, Beyhan, Lupski, James R.
Publicado no J Clin Invest (2016)

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

Por Harms, Frederike Leonie, Girisha, Katta M., Hardigan, Andrew A., Kortüm, Fanny, Shukla, Anju, Alawi, Malik, Dalal, Ashwin, Brady, Lauren, Tarnopolsky, Mark, Bird, Lynne M., Ceulemans, Sophia, Bebin, Martina, Bowling, Kevin M., Hiatt, Susan M., Lose, Edward J., Primiano, Michelle, Chung, Wendy K., Juusola, Jane, Akdemir, Zeynep C., Bainbridge, Matthew, Charng, Wu-Lin, Drummond-Borg, Margaret, Eldomery, Mohammad K., El-Hattab, Ayman W., Saleh, Mohammed A.M., Bézieau, Stéphane, Cogné, Benjamin, Isidor, Bertrand, Küry, Sébastien, Lupski, James R., Myers, Richard M., Cooper, Gregory M., Kutsche, Kerstin
Publicado no Am J Hum Genet (2017)