Results 151 to 160 of about 549,661 (323)

Skin calcium deposits in primary familial brain calcification: A novel potential biomarker

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting
Aron Emmi, Giulia Bonato, Aleksandar Tushevski, Cinzia Bertolin, Francesco Cavallieri, Andrea Porzionato, Angelo Antonini, Leonardo Salviati, Miryam Carecchio   +8 more
wiley   +1 more source

CSF cytokine, chemokine and injury biomarker profile of glial fibrillary acidic protein (GFAP) autoimmunity

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Defining the CSF cytokine/chemokine and injury biomarker signature of glial fibrillary acidic protein (GFAP) autoimmunity can inform immunopathogenesis. CSF GFAP‐IgG‐positive samples (N = 98) were tested for 17 cytokines/chemokines, neurofilament light chain (NfL), and GFAP (ELLA, Bio‐Techne).
Yahel Segal, Georgios Mangioris, Vanda Lennon, Binxia Yang, Divyanshu Dubey, Eoin P. Flanagan, Andrew McKeon, John R. Mills, Michel Toledano, Ivana Vodopivec, Sean J. Pittock, Anastasia Zekeridou   +11 more
wiley   +1 more source

ABNORMAL INCEPTION OF THE CARDIAC RHYTHM [PDF]

, 1907
J. Mackenzie
openalex   +1 more source

Abnormal Reaction to Abnormal Situation is Normal

Journal of Korean Medical Science, 2020
openaire   +3 more sources

Clinical impact and safety of brain biopsy in unexplained central nervous system disorders: a real‐world cohort study

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective A substantial part of central nervous system (CNS) disorders remains unexplained, despite various new and minimally invasive diagnostic techniques. Within this rapidly developing diagnostic field, the precise role of brain biopsy is unknown.
Robin W. van Steenhoven, Saan Salih, Juna M. de Vries, Ide Smets, Rob M. Verdijk, Mayke Gardeniers, Jeroen Kerstens, Juliette Brenner, Yvette S. Crijnen, Marjolein Geurts, Jacoline E. C. Bromberg, Corine H. GeurtsvanKessel, Peter A. E. Sillevis Smitt, Rutger K. Balvers, Maarten J. Titulaer   +14 more
wiley   +1 more source

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

Abnormal Brain Convolutions [PDF]

, 1896
Julius Mickle
openalex   +1 more source

Amygdala Neurodegeneration: A Key Driver of Visual Dysfunction in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Visual disability in Parkinson's disease (PD) is not fully explained by retinal neurodegeneration. We aimed to delineate the brain substrate of visual dysfunction in PD and its association with retinal thickness. Methods Forty‐two PD patients and 29 controls underwent 3‐Tesla MRI, retinal spectral‐domain optical coherence tomography,
Asier Erramuzpe, Ane Murueta‐Goyena, Antonio Jimenez‐Marin, Marian Acera, Sara Teijeira‐Portas, Rocío Del Pino, Tamara Fernández‐Valle, Ibai Diez, Unai Sainz‐Lugarezaresti, Naroa Ibarretxe‐Bilbao, Unai Ayala, Maitane Barrenechea, Alberto Cabrera‐Zubizarreta, Jesús Cortés, Juan Carlos Gómez‐Esteban, Iñigo Gabilondo   +15 more
wiley   +1 more source

Abnormal Venous Circulation in a Frog

, 1926
F. W. FLATTELY
openalex   +1 more source

Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron, Remika Mito, Samuel F. Berkovic, Graeme D. Jackson   +3 more
wiley   +1 more source