Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Mary R. Andriola"'
Autor:
Jiang Wu, A. James Barkovich, Jiqiang Ling, Tojo Nakayama, Mary R. Andriola, R. Sean Hill, Ganeshwaran H. Mochida, Malak El-Quessny, Brenda J. Barry, Jody Weiss, Dylan J. Vaughan, Patricia Galvin-Parton, Jennifer N. Partlow
Publikováno v:
Human Mutation. 38:1348-1354
Aminoacyl-transfer RNA (tRNA) synthetases ligate amino acids to specific tRNAs and are essential for protein synthesis. Although alanyl-tRNA synthetase (AARS) is a synthetase implicated in a wide range of neurological disorders from Charcot-Marie-Too
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dec8d0c4a302c1e06b5d5b29fdacc56
https://doi.org/10.1002/humu.23250
https://doi.org/10.1002/humu.23250
Autor:
Lissette Estrella, Patricia K. Duffner, Alejandro Iglesias, David A. Wenger, James M. Provenzale, Joseph J. Orsini, Jennifer M. Kwon, Denise M. Kay, Patricia Galvin-Parton, Georgianne L. Arnold, Joan E. Pellegrino, Maria L. Escolar, David Kronn, Michele Caggana, Joanne Kurtzberg, Richard W. Erbe, Alan M. Aron, Paul A. Levy, Mary R. Andriola, Thomas P. Naidich, Melissa P. Wasserstein, Thomas J. Langan
Publikováno v:
Genetics in Medicine. 18:1235-1243
Early infantile Krabbe disease is rapidly fatal, but hematopoietic stem cell transplantation (HSCT) may improve outcomes if performed soon after birth. New York State began screening all newborns for Krabbe disease in 2006. Infants with abnormal newb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49f0958e0ba6bf53e9effc3fbd658442
https://doi.org/10.1038/gim.2016.35
https://doi.org/10.1038/gim.2016.35
Publikováno v:
Epilepsy & Behavior. 7:652-656
Autism is associated with epilepsy in early childhood, with evidence suggesting that individuals with both autism and more severe cognitive impairment are at higher risk. However, the incidence of an abnormal electroencephalogram and/or epilepsy in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1717184a58f512f0a75634ae77bb58b
https://doi.org/10.1016/j.yebeh.2005.08.008
https://doi.org/10.1016/j.yebeh.2005.08.008
Autor:
Mary R. Andriola
Publikováno v:
Current Therapeutic Research. 61:208-215
Objective: The aim of the study was to compare the efficacy and safety of methylphenidate and pemoline in the treatment of children with attention deficit hyperactivity disorder (ADHD). Background: Although methylphenidate, pemoline, and dextroamphet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::59896255b6f099bc72a00fed4cc1f305
https://doi.org/10.1016/s0011-393x(00)89035-9
https://doi.org/10.1016/s0011-393x(00)89035-9
Publikováno v:
Pediatric Neurology. 22:8-18
Acute disseminated encephalomyelitis is a monophasic, immune-mediated disorder that produces multifocal demyelinating lesions within the central nervous system. It is characterized clinically by the acute onset of neurologic abnormalities, including
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e783c6f70521131828859a81afdd998b
https://doi.org/10.1016/s0887-8994(99)00116-2
https://doi.org/10.1016/s0887-8994(99)00116-2
Autor:
John Tuominen, Alan B. Ettinger, Christine Pitocco, Sugata Bagchi, Patricia Flores, Cecille Just, Mary R. Andriola, Oscar G. Bernal, Terrance Rooney, Orrin Devinsky
Publikováno v:
Epilepsia. 40:1159-1162
We report two patients with intractable partial seizures who developed generalized nonconvulsive status epilepticus (NCSE) after receiving tiagabine (TGB). Neither had a history of absence seizures or generalized epileptic discharges on prior EEG mon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::558bd87ab3616b0c98b17dc478ba2583
https://doi.org/10.1111/j.1528-1157.1999.tb00835.x
https://doi.org/10.1111/j.1528-1157.1999.tb00835.x
Autor:
Edith E. Nolan, Alan B. Ettinger, Bruce P. Hermann, Mary R. Andriola, Kenneth D. Gadow, Deborah M. Weisbrot, Nicholas J. Lenn, Gerald P. Novak, Susan A. Vitale
Publikováno v:
Epilepsia. 39:595-599
Summary: Purpose: We assessed rates of symptoms of anxiety and depression among pediatric patients with epilepsy. Methods: We administered the Revised Child Manifest Anxiety Scale (RCMAS), and Child Depression Inventory (CDI) to 44 epilepsy patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9bebca0c8de7ab30ec362580982b998
https://doi.org/10.1111/j.1528-1157.1998.tb01427.x
https://doi.org/10.1111/j.1528-1157.1998.tb01427.x
Autor:
Darius J. Adams, Emma Ciafaloni, David A. Wenger, Joseph J. Orsini, Jill Miller-Horn, David Kronn, Stanley J. Rothman, Marc C. Patterson, Joanne Kurtzberg, Mary R. Andriola, Patricia Galvin-Parton, Maria L. Escolar, Laura Helton, James M. Provenzale, Alexandra Djukic, Michele Caggana, Jennifer M. Kwon, Paul A. Levy, Georgianne L. Arnold, Patricia K. Duffner, Barry E. Kosofsky, Melissa P. Wasserstein, Joan E. Pellegrino, Richard W. Erbe, Carl J. Crosley, Edwin H. Kolodny, Thomas P. Naidich, Alan M. Aron
Publikováno v:
Pediatric neurology. 40(4)
Krabbe disease is a rare inherited neurologic disorder affecting the central and peripheral nervous systems. The disease has four phenotypes: early infantile, later onset, adolescent, and adult. The only known treatment is hematopoietic stem cell tra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1f893127867b4498ae24254a436ce87
https://pubmed.ncbi.nlm.nih.gov/19589470
https://pubmed.ncbi.nlm.nih.gov/19589470
Autor:
Mary R Andriola
Publisher Summary This chapter presents the case of a patient suffering from pyridoxine-dependent seizures. The 3½-year-old girl had a normal perinatal history, normal growth and development, and a negative family history. She first presented at 8 m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::74f7c04c29294f29b35548c00ad27038
https://doi.org/10.1016/b978-0-12-374005-2.00071-5
https://doi.org/10.1016/b978-0-12-374005-2.00071-5
Autor:
Mary R. Andriola
Publikováno v:
Seminars in Neurology. 10:156-165
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be9df27d33f939ecfa1cce265f2a51d3
https://doi.org/10.1055/s-2008-1041265
https://doi.org/10.1055/s-2008-1041265