Results 181 to 190 of about 1,482,013 (279)

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

Correspondence of MRI and nTMS With EDSS in Multiple Sclerosis: Longitudinal Follow‐Up Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Considering the characteristics of multiple sclerosis (MS) disease and its impact on motor disability, this study aims to assess the functional integrity of the corticospinal tract by examining motor evoked potentials (MEPs), Expanded Disability Status Scale (EDSS) scores, magnetic resonance imaging (MRI) lesion counts, and ...
Antonia Bralić, Sanda Pavelin, Nikolina Pleić, Joško Šoda, Krešimir Dolić, Anita Markotić, Ana Ćurković Katić, Angela Mastelić, Nikolina Režić Mužinić, Jasna Duranović, Zlatko Kljajić, Ivona Stipica Safić, Zoran Đogaš, Maja Rogić Vidaković   +13 more
wiley   +1 more source

Sizzled (Frzb3) physically interacts with noncanonical Wnt ligands to inhibit gastrulation cell movement. [PDF]

Mol Cells
Yoon J, Kumar S, Lee H, Rehman ZU, Park S, Lee U, Kim J.   +6 more
europepmc   +1 more source

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson   +19 more
wiley   +1 more source

Suppression of Pcdh8/paraxial protocadherin is required for efficient neighbor exchange in morphogenetic cell movement during zebrafish notochord formation. [PDF]

Sci Rep
Kai M, Kondo M.
europepmc   +1 more source

Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano, Megan A. Iammarino, Natalie F. Reash, Linda P. Lowes, Lindsay Pietruszewski, Kathleen Adderley, Lauren Humphrey, Audrey B. Knight, Christopher L. Steiner, Melissa A. Smith, Zarife Sahenk, Anne M. Connolly, Momen Almomen, Eleonora S. D'Ambrosio, Nathan Peck, Allison Peck   +15 more
wiley   +1 more source

Epithelial invagination by a vertical telescoping cell movement in mammalian salivary glands and teeth. [PDF]

Nat Commun, 2020
Li J, Economou AD, Vacca B, Green JBA.
europepmc   +1 more source

Histone Deacetylase 6 Brain PET in Amyotrophic Lateral Sclerosis‐Frontotemporal Spectrum Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective [18F]EKZ‐001 is a positron emission tomography (PET) tracer targeting histone deacetylase 6 (HDAC6), an enzyme responsible for intracellular transport and clearance of misfolded proteins. HDAC6 modulation is a promising treatment strategy in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS).
Greet Vanderlinden, Charles Carron, Donatienne Van Weehaeghe, Joke De Vocht, Fouke Ombelet, Pegah Masrori, Caro De Weerdt, Rebecca E. James, Lauren T. Evans, Frederick A. Schroeder, Jacob M. Hooker, Michel Koole, Janice E. Kranz, Tonya M. Gilbert, Philip Van Damme, Koen Van Laere   +15 more
wiley   +1 more source

Corrigendum to "Sizzled (Frzb3) physically interacts with noncanonical Wnt ligands to inhibit gastrulation cell movement" [Volume 47, Issue 6, June 2024, 100068. start page - end page]. [PDF]

Mol Cells
Yoon J, Kumar S, Lee H, Rehman ZU, Park S, Lee U, Kim J.   +6 more
europepmc   +1 more source

Serotonergic and Dopaminergic Function in Neuropsychiatrically Asymptomatic People With HIV on Antiretroviral Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective People with HIV (PWH) on antiretroviral therapy (ART) still experience neurocognitive dysfunction and accelerated brain volume loss. To assess whether the serotonergic and dopaminergic systems are affected, we used [11C]DASB positron emission tomography (PET) to assess presynaptic serotonergic function and [18F]FDOPA PET to measure ...
Chuen‐Yen Lau, Anna Lyndaker, Swati Shah, Paul Wakim, Amelia Mitchell, Cynthia Monroe, Alan Kim, Tracy L. Cropper, Govind Nair, Joseph Snow, Bryan R. Smith, Avindra Nath, Dima A. Hammoud   +12 more
wiley   +1 more source