Results 151 to 160 of about 10,519 (268)

Regional and Compartmental Changes Drive Progressive Patterns of Striatal Degeneration in X‐Linked Dystonia Parkinsonism

Annals of Neurology, EarlyView.
Objective Initially described in 1976, X‐linked dystonia parkinsonism (XDP) is a neurodegenerative disease that can be characterized by the presentation of dystonia and parkinsonism symptoms. Although this disease bears some resemblance to other neurodegenerative diseases in terms of symptomatology, the pathological signature of XDP is still unclear ...
Adelie Y.S. Tan, Nakhon. S.S.S. Thai, Christine J. Arasaratnam, Seung A. Han, Ellen B. Penney, Geraldine Acuña‐Sunshine, Cid Czarina E. Diesta, Mark C. Ang, Edwin Muñoz, Cara Fernandez‐Cerado, Victor Cleofas, G. Paul Legarda, Salvie Velasco, Michelle A. Sy, Clinton P. Turner, Mike Dragunow, Maurice A. Curtis, Ann. M. Graybiel, Richard L.M. Faull, Malvindar K. Singh‐Bains   +19 more
wiley   +1 more source

Heterogeneity of monogenic epilepsy in loci, phenotypes, and treatment approaches. [PDF]

Neurol Sci
Saad AK, Akawi N.
europepmc   +1 more source

Toward a Behavioral Reserve Model in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective Behavioral impairment is common in amyotrophic lateral sclerosis (ALS) and strongly affects autonomy, caregiver burden, and outcomes, yet predictors of vulnerability remain unclear. We investigated whether premorbid regulatory traits and socio‐educational exposures are associated with behavioral phenotypes in ALS within a behavioral reserve ...
Francesca Palumbo, Barbara Iazzolino, Cristina Moglia, Umberto Manera, Enrico Matteoni, Sara Cabras, Giorgio Pellegrino, Emilio Minerva, Vita Passidomo, Rosario Vasta, Gabriele Mora, Fabrizio D’Ovidio, Antonio Canosa, Andrea Calvo, Adriano Chiò   +14 more
wiley   +1 more source

Cannabidiol in Developmental Epilepsy: Organoid-Guided Precision Medicine Across Critical Neurodevelopmental Windows. [PDF]

Int J Mol Sci
Joo J, Yang WS, Koh HJ.
europepmc   +1 more source

Neurotransmitter‐Defined Degeneration Patterns in Sporadic and C9orf72‐Associated Amyotrophic Lateral Sclerosis: Predilection to GABAergic, Serotonergic, Opioid, Glutamatergic, Endocannabinoid, and Microglial Systems—Implications for Therapy Development

Annals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) has a markedly distinctive clinical and neuroradiological signature, with the preferential involvement of specific brain networks and the apparent sparing of others. The molecular underpinnings of the strikingly selective anatomical vulnerability have not been fully elucidated to date despite the potential ...
Marlene Tahedl, We Fong Siah, Jasmin Lope, Jennifer C. Hengeveld, Mark A. Doherty, Russell L. McLaughlin, Orla Hardiman, Ee Ling Tan, Alison Toomey, Jana Kleinerova, Peter Bede   +10 more
wiley   +1 more source

Fenfluramine in SCN1A-related GEFS+: A multicenter observational study on efficacy, EEG improvement, and tolerability. [PDF]

Epilepsia Open
Dell'Isola GB, Muda A, Giordano L, Guerrini R, Boncristiano A, Pietrafusa N, Polselli M, Bisulli F, Ragona F, Riva A, Striano P, Battaglia DI, Vigevano F.   +12 more
europepmc   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source

Addressing Barriers to Transitioning Pediatric Patients With Epilepsy to Adult Health Care in the United States: A Narrative Review. [PDF]

Neurol Clin Pract
Perry MS, Nascimento FA, Pina-Garza JE, Chez MG, Ferreira JA, Rabinowicz AL, Carrazana E.   +6 more
europepmc   +1 more source

Scoping literature review: Comparing MRI tractography methods for optic radiation analysis

The Anatomical Record, EarlyView.
Abstract Accurate tractography mapping of the optic radiations is essential to avoiding post‐operative visual field deficits in patients undergoing temporal lobe surgery. This literature review highlights the current landscape of MRI tractography methods that are used to delineate the optic radiations (ORs), with a particular focus on the anterior ...
Hriday Sahni, Cristina Schaurich, Lara Boyd, Claudia Krebs   +3 more
wiley   +1 more source

Unlocking the potential of multidisciplinary clinics to transform rare epilepsies care, insights, and research. [PDF]

Front Neurol
Bakhos C, Delagrammatikas CG, Demarest S, DeWoody Y, Dyer T, Miller IP, Moore A, Point AF, Rigby CS, Steinberg J, Vogel-Farley V, Wiltrout K.   +11 more
europepmc   +1 more source