Results 211 to 220 of about 404,286 (313)

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Evaluation of Sleep Disorders and Quality of Life in Patients With Mycosis Fungoides. [PDF]

Cancer Rep (Hoboken)
Mohammadi SA, Sepaskhah M, Hedayati A, Dastgheib L, Khodakarim S, Gholami MA.   +5 more
europepmc   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Adenosine A₁ and A_2A Receptors in Sleep Disorders: Mechanisms and Therapeutic Implications. [PDF]

Biomol Ther (Seoul)
Jee HJ, Youn C, Lee H, Jung YS.
europepmc   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

The Prevalence of Sleep Disorders in Populations with Glymphatic Dysfunction: A Systematic Review and Meta-Analysis. [PDF]

Biology (Basel)
Hein ZM, Che Mohd Nassir CMN, Abdul Hamid H, Abdullah MFIL, Shantakumari N.   +4 more
europepmc   +1 more source

“It's Not Deterministic and It Will Never Be Deterministic”: A Qualitative Study on Stakeholder Perspectives of Polygenic Risk Score Testing for Post‐Traumatic Stress Disorder

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Post‐traumatic stress disorder (PTSD) causes significant mental and physical distress, yet only a small subset of individuals exposed to trauma develop the disorder. Scientists and clinicians are still unable to predict who will get the disorder or how it will manifest.
Brandy M. Fox
wiley   +1 more source

The Triangular Model of Psychological Stress, Sleep Disorders and Food Addiction in T2DM: An Integrative Review Based on Shared Molecular Mechanisms. [PDF]

Nutrients
Zhang C, Huang Y, Fu G, Zhang X, Xia D.
europepmc   +1 more source

rTMS for rapid relief of sleep disorders induced by influenza virus infection: a clinical retrospective study. [PDF]

Transl Psychiatry
Du H, Meng X, Zhang C, Yu Y, Bai J, He K, Wang Y, Guo L, Bai L, Zhang Y, Yang L, Zhao H, Gu Y, Wang H, Qin W, Zhang K.   +15 more
europepmc   +1 more source