Results 161 to 170 of about 1,112,463 (306)

SAT-LB050 Congenital Adrenal Hyperplasia Newborn Screening Protocols Differ Widely in the US: A Survey by the Differences/Disorders of Sex Development Translational Research Network (DSD-TRN)

, 2019
Phyllis Speiser, Reeti Chawla, Ming Chen, Emmanuèle C. Délot, Alicia Thomas, Courtney Finlayson, Abby Hollander, Michael Lowell, Meilan M. Rutter, David E. Sandberg, Kim Shimy, Éric Vilain   +11 more
openalex   +1 more source

A Review on the Cognitive Neuroscience of Autism [PDF]

, 2005
With increased recognition in the media, heightened prevalence, and advances in research technologies, investigation into the causes of autism has broadened in recent years.
Koyama, Alain
core  

Life‐Threatening Bradycardia in Anti‐NMDA‐Receptor Encephalitis and a Novel Use for Permanent Pacing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Pediatric anti‐NMDA receptor encephalitis (pNMDARE) is an autoantibody‐mediated disorder that can cause severe autonomic dysfunction, including symptomatic bradycardia and asystole. Dysautonomia can last for years, making it very challenging to manage.
Sarah Tucker, Abhijit Das, Andres Jimenez, Areeba Basit, Yike Jiang, Emily A. Smitherman, Heather Van Mater, Taylor Howard, Alexander J. Sandweiss, Kristen S. Fisher   +9 more
wiley   +1 more source

Sox10 gain-of-function causes XX sex reversal in mice: implications for human 22q-linked disorders of sex development [PDF]

, 2009
Juan Carlos Polanco, Dagmar Wilhelm, Tara‐Lynne Davidson, Deon Knight, Peter Koopman   +4 more
openalex   +1 more source

Cognitive Status in People With Epilepsy in the Republic of Guinea: A Prospective, Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective People with epilepsy (PWE) may experience cognitive deficits but fail to undergo formal evaluation. This study compares cognitive status between PWE and healthy controls in the West African Republic of Guinea. Methods A cross‐sectional, case–control study was conducted in sequential recruitment phases (July 2024–July 2025) at Ignace ...
Maya L. Mastick, Cheick O. Soumah, Malé Doré, Oumar Mara, Desiré Neldje, Fodé A. Cissé, Toure M. Lamine, Aminata Diallo, Seungwon Lee, Siddharth Satish, Alexander J. X. Chen, Alice Liu, Nomin Enkhtsetseg, Farrah J. Mateen, The Guinea Epilepsy Project   +14 more
wiley   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco, Caterina Motta, Enrica Marchionni, Maria Rosaria D'Apice, Carlangelo Carrese, Giuseppe Novelli, Alessandro Martorana, Chiara Giuseppina Bonomi   +7 more
wiley   +1 more source

Mental Health of a Large Group of Adults With Disorders of Sex Development in Six European Countries

, 2019
A. de Vries, Robert Roehle, Louise Marshall, Louise Frisén, Tim C. van de Grift, Baudewijntje P.C. Kreukels, Claire Bouvattier, Birgit Köhler, Ute Thyen, Anna Nordenström, Marion Rapp, Peggy T. Cohen–Kettenis   +11 more
openalex   +2 more sources

Intra-Abdominal Testicular Seminoma In A Phenotypic Female: A Case of XY, Disorder of Sex Development Complicated with Seminoma

, 2023
Nafisa Abedin, Kazi Nabila Bushrah, Muhit Reza Md Muktadir, Sajjad Hossain, Bishnu Pada Dey   +4 more
openalex   +2 more sources

ALS With and Without Upper Motor Neuron Signs: A Comparative Study Supporting the Gold Coast Criteria

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung, E‐nae Cheong, Jungmin So, Heung‐Won Kang, Yangsean Choi, Eun‐Jae Lee, Hyunjin Kim, Young‐Min Lim   +7 more
wiley   +1 more source