Zobrazeno 1 - 10
of 101
pro vyhledávání: '"Esther Leshinsky-Silver"'
Autor:
James A. Wohlschlegel, Jill A. Rosenfeld, Isabelle Coppens, Janet Markle, Marsha Pratt, Nawal Makhseed, Xianghui Chen, Thomas A. Burrow, Yu Zhang, Timothy S. Wang, Santosh R. Mordekar, Noelle R. Danylchuk, Michael E. Meadow, Kyle Metz, Daniel Crooks, Satish Agadi, Katrina Peariso, Gerard T. Berry, Michael J. Parker, Hee Jong Kim, Esther Leshinsky-Silver, Dianalee McKnight, Christine Stanley, Tobias Loddenkemper, Adam L. Hartman, Isabelle Prehl, Gustavo Maegawa, J. Marie Hardwick, Adolfo Garnica, Abdel Aouacheria, Min Tsui Ong, Parul Jayakar, Weimin Bi, Heather M. Lamb, Hatha Gbedawo, Michael Alber, Bart E. Wagner, Thomas C. Markello, Yaping Yang, Glenn Anderson, Xinchen Teng, Edda Haberlandt, Pankaj B. Agrawal
Publikováno v:
Annals of Neurology
Annals of Neurology, 2018, 84 (5), pp.766-780. ⟨10.1002/ana.25351⟩
Annals of Neurology, Wiley, 2018, 84 (5), pp.766-780. ⟨10.1002/ana.25351⟩
Annals of Neurology, 2018, 84 (5), pp.766-780. ⟨10.1002/ana.25351⟩
Annals of Neurology, Wiley, 2018, 84 (5), pp.766-780. ⟨10.1002/ana.25351⟩
International audience; OBJECTIVE:Several small case series identified KCTD7 mutations in patients with a rare autosomal recessive disorder designated progressive myoclonic epilepsy (EPM3) and neuronal ceroid lipofuscinosis (CLN14). Despite the name
Autor:
Tally Lerman-Sagie, Dorit Lev, Daniella Nishri, Iris Noyman, Hirotomo Saitsu, Naomichi Matsumoto, Lubov Blumkin, Mitsuko Nakashima, Sara Kivity, Hadassa Goldberg-Stern, Esther Leshinsky-Silver
Publikováno v:
European Journal of Paediatric Neurology. 20:412-417
Objective Early onset epileptic encephalopathies (EOEEs) are a group of devastating diseases, manifesting in the first year of life with frequent seizures and/or prominent interictal epileptiform discharges on the electroencephalogram (EEG), developm
Autor:
Lubov Blumkin, Tal Kopler, Teisha Y. Bradshaw, Dvir Dahari, J. Paul Chapple, Marina Michelson, Tally Lerman-Sagie, Dorit Lev, Esther Leshinsky-Silver
Publikováno v:
European Journal of Paediatric Neurology. 19:472-476
Background ARSACS (autosomal–recessive spastic ataxia of Charlevoix-Saguenay) is a neurodegenerative disorder caused by SACS gene mutations and characterized by a triad of symptoms: early-onset cerebellar ataxia, spasticity and peripheral neuropath
Autor:
Dorit Lev, Ayelet Zerem, Tally Lerman-Sagie, Lubov Blumkin, Sara Kivity, Marina Michelson, Esther Leshinsky-Silver
Publikováno v:
European Journal of Paediatric Neurology. 19:292-297
Objective Paroxysmal tonic upward gaze was initially described as a benign phenomenon with negative investigations and eventual complete resolution of symptoms. Later publications demonstrated that a similar clinical picture may arise from structural
Autor:
Menachem Sadeh, Ron Dabby, Esther Leshinsky-Silver, Peter Hackman, Bjarne Udd, David Hilton-Jones, Paul H. Plotz, Anna Vihola
Publikováno v:
Journal of the Neurological Sciences. 351:120-123
Rarely, inflammation can be present in genetic myopathies, such as dysferlinopathies, facioscapulohumeral muscular dystrophy and GNE-myopathy (hereditary inclusion body myopathy). This may lead to erroneous initial diagnosis and unnecessary therapy w
Autor:
Jiang Wu, Dorit Lev, Jiqiang Ling, Sarit Bahar, Tally Lerman-Sagie, Esther Leshinsky-Silver, Miri Yanoov-Sharav, Chana Vinkler, Keren Yosovich
Publikováno v:
Neurogenetics. 18(3)
Glutaminyl tRNA synthase is highly expressed in the developing fetal human brain. Mutations in the glutaminyl-tRNA synthetase (QARS) gene have been reported in patients with progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizu
Autor:
Esther Leshinsky-Silver, Daphna Marom, Stavit A. Shalev, Rachel Straussberg, Dorit Lev, Esther Sanado-Inbar, Gadi Horev, Tally Lerman-Sagie, Yaniv Lakovsky
Publikováno v:
Journal of Child Neurology. 30:490-495
Aicardi-Goutières syndrome is a genetic neurodegenerative disorder with clinical symptoms mimicking a congenital viral infection. Mutations in 6 genes are known to cause the disease: 3 prime repair exonuclease1, ribonucleases H2A, B, and C, SAM doma
Autor:
Sara Kivity, Dorit Lev, Yael Michaeli-Yossef, Ayelet Halevy, Esther Leshinsky-Silver, Hirotomo Saitsu, Hadassa Goldberg-Stern, Kazuyuki Nakamura, Naomichi Matsumoto, Tally Lerman-Sagie, Lubov Blumkin, Ayelet Zerem
Publikováno v:
European Journal of Paediatric Neurology. 18:567-571
Ohtahara syndrome is a devastating early infantile epileptic encephalopathy caused by mutations in different genes. We describe a patient with Ohtahara syndrome who presented on the first day of life with refractory tonic seizures and a suppression-b
Autor:
Liat Ben-Sira, Esther Leshinsky-Silver, Daniella Nishri, Marco Henneke, Simon Edvardson, Lubov Blumkin, Dorit Lev, Tally Lerman-Sagie
Publikováno v:
European Journal of Paediatric Neurology. 18:495-501
Introduction There are many similarities, both clinical and radiological, between mitochondrial leukoencephalopathies and Alexander disease, an astrogliopathy. Clinically, both can manifest with a myriad of symptoms and signs, arising from the neonat
Autor:
Marina Michelson, Tally Lerman-Sagie, Chana Vinkler, Dorit Lev, Esther Leshinsky-Silver, Dorothea Haas
Publikováno v:
European Journal of Medical Genetics. 57:288-292
Genetic syndromes with proportionate severe short stature are rare. We describe two sisters born to nonconsanguineous parents with severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly