Results 161 to 170 of about 308,350 (333)

Autophagy and Autosomal Dominant Polycystic Kidney Disease

Turkish Journal of Nephrology, 2023
Özgür Akın Oto, Charles L. Edelstein
doaj   +1 more source

Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy

Clinical Ophthalmology, 2012
Hannah A Rowell,1,2 Alexander G Bassuk,3,4 Vinit B Mahajan1,21Omics Laboratory, 2Department of Ophthalmology and Visual Sciences, 3Department of Pediatrics, 4Department of Neurology, University of Iowa, Iowa City, IA, USABackground: The purpose of this ...
Rowell HA, Bassuk AG, Mahajan VB
doaj  

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family

Neuropsychiatric Disease and Treatment, 2011
Radi Shahien1, Silvia Bianchi2, Abdalla Bowirrat11Department of Neurology, Ziv Medical Center, Safed, Israel; 2Department of Neurological and Behavioral Sciences, University of Siena, Viale Bracci, Siena, ItalyAbstract: Cerebral autosomal-dominant ...
Shahien R, Bianchi S, Bowirrat A
doaj  

Autosomal dominant Glut‐1 deficiency syndrome and familial epilepsy [PDF]

, 2001
Knut Brockmann, Dong Wang, Christoph Korenke, Arpad von Moers, Yuan‐Yuan Ho, Juan M. Pascual, Kunyan Kuang, Hong Yang, Li Ma, Pamela Kranz‐Eble, Jorge Fischbarg, F. Hanefeld, Darryl C. De Vivo   +12 more
openalex   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Patient‐Reported Outcomes with Selpercatinib Treatment Among Patients with RET‐Mutant Medullary Thyroid Cancer in the Phase I/II LIBRETTO‐001 Trial

The Oncologist, EarlyView., 2021
Abstract Background Medullary thyroid cancer (MTC) standard of care includes multikinase inhibitors (MKIs), which can exacerbate disease‐related diarrhea, primarily because of non‐RET kinase inhibition. We report diarrhea and other patient‐reported outcomes (PROs) with selpercatinib, a highly selective RET inhibitor, among patients with RET‐mutant MTC ...
Lori J. Wirth, Bruce Robinson, Valentina Boni, Daniel S.W. Tan, Caroline McCoach, Erminia Massarelli, Lisa M. Hess, Min‐Hua Jen, Jennifer Kherani, Elizabeth Olek, Vivek Subbiah   +10 more
wiley   +1 more source

Autosomal Dominant Growth Hormone (GH) Deficiency Type II: The Del32–71-GH Deletion Mutant Suppresses Secretion of Wild-Type GH¹ [PDF]

, 2000
Min S. Lee, Michael P. Wajnrajch, Steve Kim, Leslie Plotnick, Julie Wang, Joseph M. Gertner, Rudolph L. Leibel, Priscilla S. Dannies   +7 more
openalex   +1 more source

A New Chinese Family of Autosomal Dominantly inherited Cerebral Small Vessel Disease Related to A Heterozygous HTRA1 Mutation [PDF]

, 2021
Junqin Zhang, Xingyu Zhang, Shuke Nie, Zongnan Li, Zhentao Zhang, Tingting Xiao   +5 more
openalex   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Lymphocyte infiltration in CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy

Clinical Ophthalmology, 2013
Vinit B Mahajan,1,2 Jonathan H Lin31Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA; 2Omics Laboratory, University of Iowa Hospitals and Clinics, Iowa City, IA, USA; 3Departments of Pathology and Ophthalmology ...
Mahajan VB, Lin JH
doaj