Results 191 to 200 of about 424,818 (305)

Functional and Structural Evidence of Neurofluid Circuit Aberrations in Huntington Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Disrupted neurofluid regulation may contribute to neurodegeneration in Huntington disease (HD). Because neurofluid pathways influence waste clearance, inflammation, and the distribution of central nervous system (CNS)–delivered therapeutics, understanding their dysfunction is increasingly important as targeted treatments emerge.
Kilian Hett, Abigail Dubois, Melanie Leguizamon, Alexander Song, Paula Trujillo, Colin D. McKnight, Ciaran M. Considine, Manus J. Donahue, Daniel O. Claassen   +8 more
wiley   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort. [PDF]

Ann Neurol
Saparov A, Dzinovic I, Brunet T, Yépez VA, Hölzlwimmer F, Indelicato E, Assmann B, Badmann S, Ballhausen D, Berweck S, Brechtmann F, Brugger M, Derderian K, Distelmaier F, Harrer P, Harvanova D, Havrankova P, Jaroszynski AK, Kolnikova M, Kopajtich R, Koy A, Krygier M, Kunc L, Kusikova K, Maier O, Mazurkiewicz-Bełdzińska M, Mertes C, Oberlack A, Roser T, Sitzberger A, Sorrentino U, Stehr AM, Vill K, Wagner M, Prokisch H, Boesch S, Necpal J, Jech R, Winkelmann J, Graf E, Gagneur J, Skorvanek M, Zech M.   +42 more
europepmc   +1 more source

Baseline Regional Cholinergic Denervation Predicts Cognitive Trajectories in Moderate Parkinson Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown, Giulia Carli, Prabesh Kanel, Stiven Roytman, Jaimie Barr, Nicolaas I. Bohnen, Roger L. Albin   +6 more
wiley   +1 more source

Beyond the Globe: Molecular Diagnostics of Optic Nerve, Orbital, and Adnexal Neoplasms. [PDF]

Transl Vis Sci Technol
Dankberg A, Yu G, Rodriguez FJ.
europepmc   +1 more source

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

Precision cancer medicine in Europe: a mixed-methods study on infrastructure for extended molecular diagnostics. [PDF]

J Cancer Res Clin Oncol
Henkel PS, Pedersen K, Taskén K, Hult EH, Gelderblom H, Fagereng GL, Landsverk HB, Aas E, PCM4EU consortium partners.   +8 more
europepmc   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +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

P635: Validating fetal RNA sequencing to improve classification of splicing variants in prenatal diagnosis*

Genetics in Medicine Open
Ted Han, Atteeq Rehman, Priya Krithivasan, Patrick Shea, Alicia Lam, Michael Ficurilli, Endre Hegedus, Junior Cadet, Vanessa Felice, Jessica Giordano, Avinash Abhyankar, Ronald Wapner, Vaidehi Jobanputra   +12 more
doaj   +1 more source

Stewardship of Molecular Diagnostics in Transplant Viral Infections. [PDF]

Transpl Infect Dis
Sugden S, Reynoso D, Mathew R, Loeffelholz M.   +3 more
europepmc   +1 more source