Results 221 to 230 of about 225,713 (333)

Microbiome modulation and behavioural improvements in children with fragile X syndrome following probiotic intake: A pilot study. [PDF]

Sci Rep
Protic D, Bascarevic D, Dimitrijevic S, Pesovic J, Nikolic V, Nikolic S, Novicevic V, Markovic J, Arandjelovic I, Savic-Pavicevic D, Diricks M, Belheouane M, Merker M.   +12 more
europepmc   +1 more source

Excess Translation of Epigenetic Regulators Contributes to Fragile X Syndrome and Is Alleviated by Brd4 Inhibition.

Cell, 2017
Erica Korb, Margaret Herre, Ilana Zucker-Scharff, J. Gresack, C. Allis, R. Darnell   +5 more
semanticscholar   +1 more source

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

Clinical Genetics, Volume 109, Issue 4, Page 784-787, April 2026.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou, Helen Turner, Deborah Shears, Fredrik Karpe   +3 more
wiley   +1 more source

Dysfunctional neural dynamics associated with sensory phenotypes in Fragile X syndrome: insights from mouse models. [PDF]

J Neurodev Disord
Goel A, Razak KA, Chubykin AA, Antoine MW.   +3 more
europepmc   +1 more source

Factors Affecting Immune Reconstitution Post‐Allogeneic HSCT in Children: The Case for an Individualized Approach to Vaccination

European Journal of Haematology, Volume 116, Issue 4, Page 336-349, April 2026.
ABSTRACT Allogeneic hematopoietic stem cell transplantation (HSCT) is increasingly used to treat malignant and non‐malignant diseases. Following allogeneic HSCT, patients are particularly vulnerable to vaccine‐preventable diseases (VPD) because conditioning depletes immune cells, including memory cells.
Hélène Buvelot, Frederic Baleydier, Laure Pittet, Geraldine Blanchard‐Rohner   +3 more
wiley   +1 more source

Atypical Retinal Ganglion Cell Function in a Mouse Model of Fragile X Syndrome. [PDF]

J Neurosci
Vlasits AL, Syeda M, Wickman A, Laskey E, Guzman P, Schmidt TM.   +5 more
europepmc   +1 more source

“Food as Friend or Enemy”: A Qualitative Study of Motivations Underlying Restrictive Dietary Practices in Fibromyalgia

Journal of Human Nutrition and Dietetics, Volume 39, Issue 2, April 2026.
ABSTRACT Introduction Despite the absence of official dietary guidelines for fibromyalgia, many patients adopt restrictive diets in an attempt to alleviate symptoms. Understanding their motivations and experiences is essential to inform patient‐centred care. Methods This qualitative study included 19 individuals with fibromyalgia who reported following
Laura Albaladejo, Fabiana Cazzorla, Aurélie Gauchet, Jean‐Luc Bosson, Cécile Bétry, Leo Druart   +5 more
wiley   +1 more source

FMRP restoration in parvalbumin interneurons: A circuit-specific improvement of visual learning in fragile X syndrome. [PDF]

iScience
Nareddula S, Saldarriaga V, Hu X, Edens PA, Fehlinger M, Chubykin AA.   +5 more
europepmc   +1 more source

Rare FMR1 gene mutations causing fragile X syndrome: A review

American Journal of Medical Genetics. Part A, 2018
Adam F Sitzmann, R. T. Hagelstrom, F. Tassone, R. Hagerman, M. Butler   +4 more
semanticscholar   +1 more source

What Matters Most? Developing a Core Patient Reported Outcome Set for Individuals With Genetic Intellectual Disabilities: An International Delphi Study

Journal of Intellectual Disability Research, Volume 70, Issue 4, Page 403-416, April 2026.
ABSTRACT Background Improving care and research for individuals with genetic intellectual disabilities (GID) requires the identification and measurement of relevant patient reported outcomes (PROs). PROs represent the patient perspective on their health status.
Nadia Y. van Silfhout, Maud M. van Muilekom, Leonie A. Menke, Clara D. van Karnebeek, Lotte Haverman, Agnies M. van Eeghen   +5 more
wiley   +1 more source