Results 121 to 130 of about 18,028 (242)

Generation of human induced pluripotent stem cell lines derived from four Rett syndrome patients with MECP2 mutations

Stem Cell Research
Rett syndrome is characterized by severe global developmental impairments with autistic features and loss of purposeful hand skills. Here we show that human induced pluripotent stem cell (hiPSC) lines derived from four Japanese female patients with Rett ...
Miyu Mori, Shoko Yoshii, Michiya Noguchi, Daigo Takagi, Tomoya Shimizu, Hidenori Ito, Mami Matsuo-Takasaki, Yukio Nakamura, Satoru Takahashi, Hiromichi Hamada, Kiyoshi Ohnuma, Tadashi Shiohama, Yohei Hayashi   +12 more
doaj   +1 more source

Capturing Behavioral Symptoms in Huntington's Disease Using the Huntington's Disease‐Behavioral Questionnaire

Movement Disorders Clinical Practice, Volume 13, Issue 6, Page 1513-1517, June 2026.
Abstract Background The Huntington's Disease Behavioral Questionnaire (HD‐BQ) captures behavioral symptoms arising from cognitive, psychiatric, and functional domains. Recognizing the high prevalence of anosognosia in HD, the HD‐BQ incorporates patient‐ and companion‐reported versions.
Siena Rigatuso, Krisha Bagga, Shelby Hughes, Japleen Kaur, Paul E. Gilbert, Jody Corey‐Bloom   +5 more
wiley   +1 more source

Epigenetic and central nervous system function : insights from the study of the rett syndrome mouse model [PDF]

, 2008
Giacometti, Emanuela
core   +1 more source

An Open‐Label Phase 1b Study of the Safety, Pharmacokinetics, Pharmacodynamics, and Clinical Activity of ANX005 in Patients with Huntington's Disease

Movement Disorders, Volume 41, Issue 6, Page 1492-1501, June 2026.
Complement activation is implicated in Huntington's disease; ANX005 is a potent inhibitor of component C1q. ANX005 exhibited a generally manageable safety profile with rapid reduction in C1q in the cerebrospinal fluid. Functional ability on composite Unified Huntington's Disease Rating Scale and total functional capacity was maintained, with potential ...
Rajeev Kumar, Pinky Agarwal, Karen Anderson, Daniel Claassen, Marissa Dean, Andrew Duker, Burton Scott, Benjamin Hoehn, Ann Mongan, Ping Lin, Ellen Cahir‐McFarland, Lori Taylor, Glenn Morrison, Ted Yednock, Sanjay Keswani, Henk‐Andre Kroon   +15 more
wiley   +1 more source

Virtual Screening and Zebrafish Phenotype‐Based Evaluation Argues Against Repurposing 4‐Phenylbutyrate for STXBP1‐Related Disorders

Pharmacology Research &Perspectives, Volume 14, Issue 3, June 2026.
ABSTRACT Syntaxin‐binding protein 1 (STXBP1) mutations lead to severe epilepsy, intellectual disability, developmental delay, and movement disorder. Effective treatments for these conditions do not exist. Recent studies in Munc18‐1 (STXBP1) C. elegans models demonstrate that 4‐phenylbutyrate (4‐PBA) or related pharmacological chaperones stabilize ...
Aline Frick, Paige Whyte‐Fagundes, Scott C. Baraban   +2 more
wiley   +1 more source

Quantification of functional abilities in Rett syndrome: a comparison between stages III and IV

, 2014
Carlos BM Monteiro,1 Geert JP Savelsbergh,2 Ana RP Smorenburg,3 Zodja Graciani,4 Camila Torriani-Pasin,5 Luiz Carlos de Abreu,6 Vitor E Valenti,7 Fernando Kok41School of Arts, Sciences and Humanities, University of São Paulo, São Paulo ...
Graciani Z, Savelsbergh GJP, Monteiro CBM, Valenti VE, Kok F, Smorenburg ARP, de Abreu LC, Torriani-Pasin C   +7 more
core  

Attending to Disability in TESOL: A Case of Patterned Inequities

TESOL Quarterly, Volume 60, Issue 2, Page 668-682, June 2026.
Abstract This article in the special issue commemorating TESOL Quarterly's anniversary documents that scholarship in the intersection of TESOL and disability is a relatively newer phenomenon. It draws on scholarship from TESOL Quarterly and the field more broadly to illuminate how research, although emergent, points to an alarming trend: that ...
Sara E.N. Kangas
wiley   +1 more source

Ketogenic diet in Rett syndrome.

, 2003
Treatment of Rett syndrome with the ketogenic diet has been reported only once and showed positive effects on seizure frequency and behavior. We report a patient with Rett syndrome who was treated with the ketogenic diet for 4 years.
Liebhaber, GM;Riemann, E;Baumeister, FA
core  

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

Journal of Intellectual Disability Research, Volume 70, Issue 6, Page 608-652, June 2026.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source

Rett syndrome – clinical and molecular genetic correlations [PDF]

, 2003
Rett syndrome is an X-linked dominant condition resulting from mutations in the MECP2 gene. Approximately 99.5% of cases are sporadic. Classical Rett syndrome affects girls.
Soler, Doriette, 5th Malta Medical School Conference, Cuschieri, Alfred, Said, Edith   +3 more
core