Unraveling the genetic and pathophysiological mechanisms underlying disorders of sex development. [PDF]
Intractable Rare Dis ResWang Y, Zhao H, Yan H, Wang Y.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Novel NR5A1 variants associated with hypospadias and disorders of sex development: A series case report of 4 patients. [PDF]
Medicine (Baltimore)Peng X, Zu J, Wang S, Hu Q.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
An evaluation of cases of disorders of sex development related to SRD5A2. [PDF]
EndocrineCeliloglu C +5 more
europepmc +1 more source
Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study. [PDF]
Endocr Connect, 2023 Tang Y +8 more
europepmc +1 more source
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source
Sex, Metaphysics, and Mental 'Dis-ease'
, 2012 The ancient Greek philosopher Epicurus believed that our metaphysics determines our state of mind: a correct view of the nature of human and worldly existence brings inner peace and tranquillity; an incorrect view, inner turmoil.
Cook, Jane Alexandra
core
A Two‐Stage Questionnaire and Actigraphy Screening for iRBD in a Multicenter Retrospective Cohort
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Isolated rapid‐eye‐movement sleep behavior disorder is a prodromal marker of synucleinopathies. However, most cases remain undiagnosed due to the insufficient predictive value of questionnaires and limited access to confirmatory video‐polysomnography. We assessed a two‐stage screening strategy combining a brief questionnaire on rapid‐
Caleb A. Massimi +17 more
wiley +1 more source
Editorial: Disorders of sex development in children: advancing multidisciplinary approaches for complex diagnosis and management. [PDF]
Front PediatrHidouri S, Kalaitzoglou E, Romero CJ.
europepmc +1 more source