Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Jennifer A. Markowitz"'
Autor:
Jayashri Srinivasan, Jennifer A. Markowitz, H. Royden Jones, Mirna Hajjar, Basil T. Darras, John T. Kissel
Publikováno v:
Pediatric Neurology. 50:11-17
Background Lambert-Eaton myasthenic syndrome, a presynaptic neuromuscular junction autoimmune disorder, rarely occurs in children. Patients typically present with proximal lower extremity weakness with areflexia. Methods We report three children pres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c0aa4aded5ba976421a9f4f0736b33c
https://doi.org/10.1016/j.pediatrneurol.2013.08.009
https://doi.org/10.1016/j.pediatrneurol.2013.08.009
Publikováno v:
Pediatric Neurology. 46:1-12
Spinal muscular atrophy, a hereditary degenerative disorder of lower motor neurons associated with progressive muscle weakness and atrophy, is the most common genetic cause of infant mortality. It is caused by decreased levels of the "survival of mot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::868fb7d73c0a57045357029d74b6fbe2
https://doi.org/10.1016/j.pediatrneurol.2011.09.001
https://doi.org/10.1016/j.pediatrneurol.2011.09.001
Spinal muscular atrophies (SMAs) are hereditary degenerative disorders of lower motor neurons associated with progressive muscle weakness and atrophy. Proximal 5q SMA is caused by decreased levels of the “survival of motor neuron” protein and is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b7614ffe0637fb0c3f428aa5caba6e2c
https://doi.org/10.1016/b978-0-12-417044-5.00008-1
https://doi.org/10.1016/b978-0-12-417044-5.00008-1
Autor:
Hasan O. Akman, Felicia B. Axelrod, Jonathan Baets, Alan H. Beggs, Carsten G. Bönnemann, Kathryn M. Brennan, Robert H. Brown, Kate Bushby, Stirling Carpenter, Wendy Chung, Emma Ciafaloni, Pedro D.S.C. Ciarlini, Thomas O. Crawford, Basil T. Darras, William S. David, Umberto De Girolami, Darryl C. De Vivo, Feza Deymeer, Salvatore DiMauro, James J. Dowling, Hacer Durmus, Andrew G. Engel, Elizabeth C. Engle, Hans H. Goebel, Padraic J. Grattan-Smith, Michela Guglieri, Debra Guntrum, Judith G. Hall, Veronica Hinton, Susan T. Iannaccone, H. Royden Jones, Karin Jurkat-Rott, Peter B. Kang, Horacio Kaufmann, Petra Kaufmann, Werner Klingler, Louis M. Kunkel, Frank Lehmann-Horn, Kerry H. Levin, Wendy K.M. Liew, Deirdre Logan, Stephen M. Maricich, Jennifer A. Markowitz, Wilson Marques, Thornton B.A. Mason, Andrew McKeon, Hugh J. McMillan, Caroline C. Menache-Starobinski, Jerry R. Mendell, Eugenio Mercuri, Payam Mohassel, Umrao R. Monani, Jacqueline Montes, Manikum Moodley, Richard T. Moxley, Francesco Muntoni, Kathryn N. North, Anders Oldfors, Maryam Oskoui, Robert A. Ouvrier, Lauren M. Pachman, Massimo Pandolfo, Carmen Paradas, Marc C. Patterson, Alan K. Percy, Matthew Pitt, David Pleasure, Susana Quijano-Roy, Francis Renault, Louise R. Rodino-Klapac, Manuel Roig-Quilis, David P. Roye, Reinhardt Rüdel, Barry S. Russman, Monique M. Ryan, Ai Sakonju, Harvey B. Sarnat, William A. Scott, Alan R. Seay, Piraye Serdaroglu-Oflazer, Navil F. Sethna, Evan D. Sheha, Michael E. Shy, Jemeen Sreedharan, Nancy E. Strauss, Rabi Tawil, Ingrid Tein, Jennifer A. Tracy, Bjarne Udd, Silvère M. van der Maarel, Angela Vincent, Joseph J. Volpe, Jo M. Wilmshurst, Nanfang Xu, Eppie M. Yiu, Huda Y. Zoghbi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::413975fb732cc9c4f6c442c8d5192a34
https://doi.org/10.1016/b978-0-12-417044-5.00062-7
https://doi.org/10.1016/b978-0-12-417044-5.00062-7
Publikováno v:
Journal of Obstetric, Gynecologic & Neonatal Nursing. 33:12-20
Spinal muscular atrophy (SMA) type I is an autosomal recessive disorder characterized by loss of lower motor neurons in the spinal cord. This severe hereditary neurodegenerative disorder is an important cause of morbidity in the neonate and the leadi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::608a11f723ca99b92a2cc837b2bded05
https://doi.org/10.1177/0884217503261125
https://doi.org/10.1177/0884217503261125
Autor:
Thanh Huynh, Xiaocun Chen, Charlotte J. Sumner, J. Paul Taylor, Jill Jarecki, Kristie R. Schussler, Arthur H.M. Burghes, Daniel D. Coovert, J. Stephen Perhac, Jennifer A. Markowitz, Kenneth H. Fischbeck, Brenna J. Hill
Publikováno v:
Annals of Neurology. 54:647-654
Spinal muscular atrophy (SMA) is an inherited motor neuron disease caused by mutation of the telomeric copy of the survival motor neuron gene (SMN1). Although a centromeric copy of the survival motor neuron gene (SMN2) is retained in all patients wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ab84d889d3e5bd6152e7e0b5b88dc11
https://doi.org/10.1002/ana.10743
https://doi.org/10.1002/ana.10743
Autor:
Carsten G Bonnemann, Kalpathy S. Krishnamoorthy, Jennifer A Markowitz, Brian S. Tseng, Anant M. Shenoy, Aaron D. Bossler
Publikováno v:
Journal of Clinical Neuromuscular Disease. 11:124-126
A term female infant was evaluated for global developmental delay, hypotonia, hyporeflexia, diffuse weakness including facial muscles, and visual impairment with optic nerve hypoplasia. In the absence of family history or perinatal concerns, an exten
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57c967cdf369dd72a35e9d13dc6e2248
https://doi.org/10.1097/cnd.0b013e3181c5054d
https://doi.org/10.1097/cnd.0b013e3181c5054d
Publikováno v:
Journal of Nursing Education and Practice. 2
Background : Menopause is a significant part of a woman’s life, it would be expected that nursing students would learn a considerable amount about the changes women go though during this time. The study purpose was to assess the amount of informati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f4f858a7a3c37b2236bb1f0c29493fb6
https://doi.org/10.5430/jnep.v2n2p18
https://doi.org/10.5430/jnep.v2n2p18
Publikováno v:
Pediatric neurology. 47(2)
This study assessed the spectrum of disorders associated with electrophysiologic myotonia in a pediatric electromyography laboratory. Records of 2234 patients observed in the Electromyography Laboratory at Boston Children's Hospital from 2000-2011 we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f244b2e3d884b01ff908792582b871c
https://pubmed.ncbi.nlm.nih.gov/22759684
https://pubmed.ncbi.nlm.nih.gov/22759684
Publikováno v:
Neurology, vol 71, iss 23
Markowitz, JA; Jeste, SS; & Kang, PB. (2008). Child Neurology: Chronic inflammatory demyelinating polyradiculoneuropathy in children. Neurology, 71(23), e74-e78. doi: 10.1212/01.wnl.0000336646.91734.b1. UCLA: Retrieved from: http://www.escholarship.org/uc/item/6jk9c3q1
Markowitz, JA; Jeste, SS; & Kang, PB. (2008). Child Neurology: Chronic inflammatory demyelinating polyradiculoneuropathy in children. Neurology, 71(23), e74-e78. doi: 10.1212/01.wnl.0000336646.91734.b1. UCLA: Retrieved from: http://www.escholarship.org/uc/item/6jk9c3q1
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an autoimmune disorder characterized by patchy demyelination of nerve roots and distal nerves. The course may be monophasic progressive or relapsing-remitting. CIDP is less common in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a784d1a7e88de7f8b1dd8f6e17e236fd
https://escholarship.org/uc/item/6jk9c3q1
https://escholarship.org/uc/item/6jk9c3q1