Results 151 to 160 of about 920,035 (311)

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

Cerebello‐Prefrontal Connectivity Underlying Cognitive Dysfunction in Spinocerebellar Ataxia Type 2

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 2 (SCA2) is a hereditary cerebellar degenerative disorder, with motor and cognitive symptoms. The constellation of cognitive symptoms due to cerebellar degeneration is named cerebellar cognitive affective syndrome (CCAS), which has increasingly been recognized to profoundly impact patients' quality of life;
Ami Kumar, Ruo‐Yah Lai, Zena Fadel, Yicheng Lin, Pia Parekh, Rachel Griep, Ming‐Kai Pan, Sheng‐Han Kuo   +7 more
wiley   +1 more source

Clinical Phenotyping of Long COVID Patients Evaluated in a Specialized Neuro‐COVID Clinic

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To report Long COVID characteristics and longitudinal courses of patients evaluated between 4/14/21–4/14/22 at the University of Pennsylvania Neurological COVID Clinic (PNCC), including clinical symptoms, neurological examination findings, and neurocognitive screening tests from a standardized PNCC neurological evaluation approach ...
Luana D. Yamashita, Neel Desai, Abigail R. Manning, Caitlin Pileggi, Sara Manning Peskin, Danielle K. Sandsmark, Dennis L. Kolson, Matthew K. Schindler   +7 more
wiley   +1 more source

Management and Outcomes in Confirmed or Suspected Acute Symptomatic Seizure: Role of Structured Outpatient Care

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Post‐discharge management and outcomes of acute symptomatic seizures (ASyS) remain underexplored. We analyzed post‐discharge ASM management and outcomes in ASyS patients undergoing continuous EEG (cEEG), including the role of outpatient care through a post‐acute symptomatic seizure (PASS) clinic. Methods We performed a single‐center,
Vineet Punia, MarieElena Byrnes, Nicolas R. Thompson, Neishay Ayub, Clio Rubinos, Sahar Zafar, Adithya Sivaraju, Zhong Ying, Jessica R. Fesler, Stephen Hantus, Post‐Acute Symptomatic Seizure Investigation and Outcomes Network (PASSION) investigators   +10 more
wiley   +1 more source

Spinal Cord Abnormalities in Early Pediatric Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Spinal cord lesions and atrophy in the cervical region are common in adult multiple sclerosis (MS) and correlate with disability. Whether similar abnormalities occur in pediatric MS patients is largely unknown. Clinical and MRI evaluations were performed in 38 pediatric MS patients and 13 healthy controls (HC).
Monica Margoni, Paola Valsasina, Paolo Preziosa, Martina Rubin, Mor Gueye, Lucia Moiola, Maria Assunta Rocca, Massimo Filippi   +7 more
wiley   +1 more source

Long‐Term Survival, Burden of Disease, and Patient‐Centered Outcomes in Maximally Treated Intracerebral Hemorrhage

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Increasing evidence shows that patients with intracerebral hemorrhage (ICH) can achieve better‐than‐expected outcomes with aggressive therapy. However, real‐world long‐term data, patient‐centered outcomes, and societal measures after maximal ICH treatment are lacking.
Anne Mrochen, Maximilian I. Sprügel, Alexander Sekita, Stefanie Balk, David Haupenthal, Stefan T. Gerner, Hannes Lücking, Arnd Doerfler, Kosmas Macha, Stefan Schwab, Joji B. Kuramatsu, Jochen A. Sembill   +11 more
wiley   +1 more source

ADAPT NXT: Fixed Cycles or Every‐Other‐Week IV Efgartigimod in Generalized Myasthenia Gravis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This phase 3b, open‐label, randomized ADAPT NXT study investigated the efficacy, safety, and tolerability of efgartigimod administered in either a fixed cycles dosing regimen (3 cycles of 4 once‐weekly infusions, with 4 weeks between cycles) or a cycle followed by every‐other‐week (Q2W) dosing.
Ali A. Habib, Kristl G. Claeys, Vera Bril, Yessar Hussain, Kelly Gwathmey, Gregory Sahagian, Elena Cortés‐Vicente, Edward Brauer, Deborah Gelinas, Anne Sumbul, Rosa H. Jimenez, Daniela Hristova, Delphine Masschaele, Renato Mantegazza, Andreas Meisel, Shahram Attarian, On behalf of the ADAPT NXT Study Group   +16 more
wiley   +1 more source

CNS Mitochondria‐Derived Vesicle in Blood: Potential Biomarkers for Brain Mitochondria Dysfunction

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial dysfunction is a hallmark of neurodegenerative diseases like Alzheimer's (AD) and Parkinson's (PD). Our goal was to develop practical, noninvasive methods to assess mitochondrial status through the detection of mitochondria‐derived vesicles (MDVs).
Qi Liu, Wentao Chen, Yahong Wu, Zhen Guo, Jun Chen, Chen Tian, Pan Wang, Shaopeng Zeng, Bin Xu, Jing Duan, Shilong Han, Xiao Xiong, Jing Zhang   +12 more
wiley   +1 more source

Association between primary care physicians' practice models and referral rates to specialists: A sex-based cross-sectional study. [PDF]

PLoS One
Rahman B, Kirkwood D, Babe G, Griffith LE, Price D, Correia RH, Dash D, Lapointe-Shaw L, Costa AP.   +8 more
europepmc   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source