Results 181 to 190 of about 15,421,997 (282)

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

Governor's Council on Substance Use Disorder - November 19, 2024

Downloaded from: https://www.nj.gov/gcsud/gcsud/agendas-minutes/ Agenda and minutes are in separate ...
New Jersey. Governor's Council on Substance Use Disorder
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Severity of stimulant use disorder by psychostimulant type and polystimulant use pattern. [PDF]

Exp Clin Psychopharmacol
Schepis TS, Veliz PT, McCabe VV, Werner KS, Pasman E, Wilens TE, McCabe SE.   +6 more
europepmc   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Governor's Council on Substance Use Disorder - April 15, 2025

Downloaded from: https://www.nj.gov/gcsud/gcsud/agendas-minutes/ Agenda and Minutes are in separate ...
New Jersey. Governor's Council on Substance Use Disorder
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Use of Naltrexone for Patients With Stimulant Use Disorder in Malaysia: Protocol for a Retrospective Cohort Study. [PDF]

JMIR Res Protoc
Muhamad NA, Ma'amor NH, Muhamad Rasat MA, Tengku Baharudin Shah TPN, Rosli '', Leman FN, Jamalluddin NH, Misnan NS, Chemi N, Abdullah N, Ibrahim N, My Addiction Study group.   +11 more
europepmc   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Governor's Council on Substance Use Disorder - January 21, 2025

Downloaded from: https://www.nj.gov/gcsud/gcsud/agendas-minutes/ Agenda and minutes are in separate ...
New Jersey. Governor's Council on Substance Use Disorder
core  

Supporting Patients With Stimulant Use Disorder During and After Hospitalization With a Mobile App-based Contingency Management Intervention: A Feasibility and Acceptability Study. [PDF]

J Addict Med
Peng L, Young K, Titus H, Peeples J, Song E, DeFrancesco C, Roellich P, Phillips R, Englander H.   +8 more
europepmc   +1 more source

Boundary‐Dependent Sleep–Wake Dysregulation in Idiopathic Hypersomnia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Idiopathic hypersomnia (IH) presents with excessive daytime sleepiness (EDS) despite apparently preserved nocturnal sleep, challenging traditional models of hypersomnolence based on sleep loss or fragmentation. We aimed to test the hypothesis that EDS in IH reflects excessive stabilization of the sleep state, consistent with ...
Samantha Mombelli, Karine Lacourse, Hélène Blais, Anne‐Sophie Deshaies‐Rugama, Cynthia Thompson, Alex Desautels, Jacques Montplaisir, Milan Nigam, Christophe Moderie, Boshra Khajehpiri, Catherine Duclos, Jean Marc Lina, Julie Carrier, Nadia Gosselin   +13 more
wiley   +1 more source