Results 121 to 130 of about 600,045 (285)

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Centrum Semiovale Perivascular Spaces Predict First Hemorrhagic Lesion in Asymptomatic Amyloid‐Positive Individuals

Annals of Neurology, EarlyView.
Objective Identification of cerebral amyloid angiopathy (CAA) before its hemorrhagic manifestations remains limited. We aimed to determine whether severe enlarged perivascular spaces in the centrum semiovale (EPVS‐CSO) identify a prehemorrhagic stage of sporadic CAA by predicting the first appearance of CAA‐related hemorrhagic lesions or incident ...
Baris Alten, Elif Gokcal, Reisa A. Sperling, Zahra Shirzadi, Jasmeer P. Chhatwal, M. Edip Gurol, Scott E. Kasner, Steven M. Greenberg, Brett L. Cucchiara   +8 more
wiley   +1 more source

Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency

, 2010
Human succinic semialdehyde dehydrogenase deficiency, an autosomal recessive disorder of γ-aminobutyric acid (GABA) catabolism, was modeled by a murine model sharing the phenotype of ataxia and seizures.
Finegersh, Andrey, Gupta, Maneesh, Pearl, Phillip L., Gibson, K. Michael, Theodore, William H., Acosta, Maria T., Munasinghe, Jeeva   +6 more
core   +1 more source

Anatomy and variation in the paraphyletic Mosasaurus lemonnieri assemblage from the Craie phosphatée de ciply, Belgium

The Anatomical Record, EarlyView.
Abstract Nineteenth century excavations of the Ciply‐Malogne Phosphatic Chalk Formation in Hainaut, Belgium, yielded over 50 partial mosasaur skeletons, the majority of which were referred to the species Mosasaurus lemonnieri Dollo, 1889. In the years since, this taxon has experienced a complicated taxonomic history, and its exceptional hypodigm has ...
Henry S. Sharpe, Hallie P. Street‐Sampson, Takuya Konishi, Michael W. Caldwell   +3 more
wiley   +1 more source

Landmark Based Shape Analysis for Cerebellar Ataxia Classification and Cerebellar Atrophy Pattern Visualization

, 2016
Cerebellar dysfunction can lead to a wide range of movement disorders. Studying the cerebellar atrophy pattern associated with different cerebellar disease types can potentially help in diagnosis, prognosis, and treatment planning.
Yang, Zhen, Jedynak, Bruno, Carass, Aaron, multiple additional authors, Abulnaga, S. Mazdak, Prince, Jerry L., Onyike, Chiadi U.   +6 more
core   +2 more sources

Brain parenchymal changes during normal aging in domestic cats

Pesquisa Veterinária Brasileira
: This study aimed to identify changes related to brain parenchyma as advancing age in healthy domestic cats. Our hypothesis is that cats suffer cerebral and cerebellar atrophy and show focal changes in signal intensity of the brain parenchyma in ...
Viviam R. Babicsak, Adriana V. Klein, Miriam H. Tsunemi, Luiz C. Vulcano   +3 more
doaj   +1 more source

Moving beyond neurophobia to cultivate the neuroquisitive learner

Anatomical Sciences Education, EarlyView.
Abstract “Neurophobia,” a pervasive fear of the neurological sciences, poses a significant barrier in medical education, affecting learners and physicians worldwide. Its consequences are far‐reaching, contributing to a limited neurology workforce and diminished confidence among non‐specialists in managing neurological conditions.
Joanna R. Appel, Kirsten A. Porter‐Stransky   +1 more
wiley   +1 more source

Monitoring pharmacodynamic and molecular drug targets in liquid biopsy: Exploratory study in liver cancer with modelling of EGFR Receptor engagement

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Liquid biopsy is minimally invasive (compared with tissue biopsy) and has previously been used to generate systems data regarding drug elimination via hepatic enzymes and transporters. This study extends quantitative assessment of systems parameters in liquid biopsy to pharmacodynamic (PD) and disease markers relevant to cancer development
Zubida M. Al‐Majdoub, Armin Sepp, Amin Rostami‐Hodjegan, Brahim Achour   +3 more
wiley   +1 more source

GRIA2 Variant Associated With Paradoxical Response to Perampanel Expanding the Spectrum of GRIA2‐Related Epileptic Encephalopathy: Case Report and Literature Review

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Introduction GRIA2 encodes the GluA2 ionotropic α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid (AMPA) receptor subunit. Pathogenic GRIA2 variants cause epilepsy, developmental delay, and neurobehavioral disorders. Characterizations of clinical features, including seizure types and their treatments, in patients with GRIA2‐related ...
Sai Srihitha Dommata, Chhitij Tiwari, Zheng Fan, Muge Gucsavas‐Calikoglu, Yael Shiloh‐Malawsky, Kimberly S. Foss, Stephanie N. Peck, Erin L. Heinzen, Chon Lee, Senyene E. Hunter   +9 more
wiley   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source