Results 61 to 70 of about 229,156 (260)

Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. [PDF]

, 2020
Mucopolysaccharidosis (MPS) is a metabolic storage disorder caused by the deficiency of any lysosomal enzyme required for the breakdown of glycosaminoglycans.
Aguilar, Miriam, Ancona, Devin, Bannasch, Danika, Brown, C. Titus, Cowan, Tina, Knipe, Marguerite, Mansour, Tamer, Moore, Bret, Seada, Haitham, Sebbag, Lionel, Sebbag, Lionel, Thomasy, Sara, Vernau, Karen, Woolard, Kevin   +13 more
core   +3 more sources

Radiotherapy in langerhans cell histiocytosis : a rare indication in a rare disease [PDF]

, 2013
Introduction: Langerhans Cell Histiocytosis (LCH) represents a rare benign disorder, previously designated as "Histiocytosis X", "Type II Histiocytosis" or "Langerhans Cell Granulomatosis".
Bruns, Frank, Büntzel, Jens, Eich, Hans Theodor, Haverkamp, Uwe, Heyd, Reinhard, Kriz, Jan, Micke, Oliver, Schäfer, Ulrich, Seegenschmiedt, Heinrich   +8 more
core   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants

Annals of Clinical and Translational Neurology, EarlyView.
Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants. ABSTRACT Objective Return of disease activity is expected when patients discontinue disease‐modifying therapy (DMT) for multiple sclerosis (MS). Some MS DMTs are associated with higher‐than‐expected disease activity (rebound) after discontinuation.
Ralf Gold, Krzysztof W. Selmaj, Regina Berkovich, Jeffrey A. Cohen, Giancarlo Comi, Eva K. Havrdová, James K. Sheffield, Hetal Desai, Chun‐Yen Cheng, Jon V. Riolo, Andrew Thorpe, Erik DeBoer, Bruce A. C. Cree   +12 more
wiley   +1 more source

Early Multi-organ Point-of-Care Ultrasound Evaluation of Respiratory Distress During SARS-CoV-2 Outbreak: Case Report [PDF]

, 2020
Introduction: Coronavirus disease 2019 (COVID-19) is caused by the virus known as severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).  Several case series from Italy and China have highlighted the lung ultrasound findings of this disease ...
Becherer-Bailey, Graham, Farrow II, Robert, Mantuani, Daniel, Nagdev, Arun   +3 more
core  

Virus demyelination [PDF]

, 2003
A number of viruses can initiate central nervous system (CNS) diseases that include demyelination as a major feature of neuropathology. In humans, the most prominent demyelinating diseases are progressive multifocal leukoencephalopathy, caused by JC ...
Fazakerley, John K, Walker, Robert
core   +1 more source

Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan, Marco Pitteri, Michael Foster, Sara Collorone, Sara Salama, Elisa Colato, Ferran Prados, Baris Kanber, Marios Yiannakas, Claudia A. M. Gandini Wheeler‐Kingshott, Indran Davagnanam, Frederik Barkhof, Declan Chard, Olga Ciccarelli, Ahmed Toosy   +14 more
wiley   +1 more source

Clinicopathological characteristics of histiocytic sarcoma affecting the central nervous system in dogs. [PDF]

, 2020
BackgroundHistiocytic sarcoma affecting the central nervous system (CNS HS) in dogs may present as primary or disseminated disease, often characterized by inflammation.
Crowe, Chelsea M, Dickinson, Peter J, Giuffrida, Michelle, Higgins, Robert J, Rossmeisl, John, Sturges, Beverly K, Toyoda, Izumi, Vernau, Karen M, Vernau, William, Woolard, Kevin, Zimmerman, Kurt   +10 more
core  

JC virus-DNA detection is associated with CD8 fffector accumulation in peripheral blood of patients with multiple sclerosis under natalizumab treatment, independently from JC virus serostatus [PDF]

, 2018
Although natalizumab (anti-α4 integrin) represents an effective therapy for relapsing remitting multiple sclerosis (RRMS), it is associated with an increased risk of developing progressive multifocal leukoencephalopathy (PML), caused by the polyomavirus ...
Anzivino, Elena, Ciardi, Maria R., Cortese, Antonio, D’Abramo, Alessandra, Francia, Ada, Frontoni, Marco, Iannetta, Marco, Lichtner, Miriam, Mastroianni, Claudio M., Morreale, Manuela, Oliva, Alessandra, Pietropaolo, Valeria, Pontecorvo, Simona, Prezioso, Carla, Rodio, Donatella Maria, Vullo, Vincenzo, Zingaropoli, Maria A.   +16 more
core   +3 more sources

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source