Results 181 to 190 of about 662,676 (346)

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Supplementum 187: Joint annual meeting of the foederatio Paedo medicorum helveticorum, the Swiss Society of Paediatrics, the Swiss Society of Paediatric Surgery and the Swiss Society for Child and Adolescent Psychiatry and Psychotherapy (Montreux, Switzerland, September 1-2, 2011)

Swiss Medical Weekly, 2011
Swiss Society of Paediatrics, Swiss Society of Paediatric Surgery, Swiss Soc. for Child and Adolesc. Psychiatry and Psychother.   +2 more
doaj   +1 more source

Hospital v. community paediatric experience for trainees in child psychiatry [PDF]

, 1994
Sandra Duke
openalex   +1 more source

Book Review: Child Psychiatry: Basic Child Psychiatry [PDF]

The Canadian Journal of Psychiatry, 2006
openaire   +1 more source

The Phenotypic Spectrum of Sporadic Creutzfeldt‐Jakob Disease Cortical Subtype

Annals of Neurology, EarlyView.
Objective The objective of this study was to characterize the phenotypic spectrum of the rare sporadic Creutzfeldt‐Jakob disease cortical subtype (sCJDMM/MV2C) in a large multicentric autopsy cohort. Methods We evaluated clinical histories, biofluid markers, brain diffusion‐weighted (DW)‐magnetic resonance imaging (MRI), and electroencephalogram (EEG ...
Simone Baiardi, Claudia Marina Vargiu, Brian S. Appleby, Marcelo Barria, Giuseppe Mario Bentivenga, Ignazio Calì, Benedetta Carlà, Mark Cohen, Armin Giese, Jochen Herms, Aino‐Minerva Kortelainen, Anna Ladogana, Angela Mammana, Diane Ritchie, Otto Windl, Sabina Capellari, Piero Parchi   +16 more
wiley   +1 more source

1.7 Characterizing Avoidant/Restrictive Food Intake Disorder (ARFID) Presentation in a Canadian Child and Adolescent Outpatient Psychiatry Setting [PDF]

Nolan C. Lee, John R. Best, Anna MacLellan, Boyee Lin, Cynthia Lu, S. Evelyn Stewart   +5 more
openalex   +1 more source

Child Psychiatry and the Law [PDF]

, 1983
Michael Rutter
openalex   +1 more source

Mechanistic Insights Into Photocatalytic Materials for Toxic Pollutants: Environmental Remediation of Personal Care Products

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT Photocatalytic materials have emerged as promising solutions for environmental applications due to their ability to degrade organic pollutants under sunlight or artificial light. In this review, recent progress on the photocatalytic materials used for the degradation of pharmaceutical personal care products (PPCPs) in environmental ...
Urvashi Sen, Gunjan Chauhan, Surbhi Soni, Monika Vats, Anand Kumar, Indra Bahadur   +5 more
wiley   +1 more source

Exploring Alexithymia, Uncertainty, Anxious Arousal, and Social Anxiety as Mediators of the Relationship Between Sensory Processing Differences and Restricted and Repetitive Behaviors in Autistic Adults

Autism Research, EarlyView.
ABSTRACT Restricted and repetitive behaviors (RRB) are associated with sensory processing (SP) differences for autistic people, and are thought to be a coping strategy to help manage the sensory environment. Previous work shows that, for autistic people, alexithymia, intolerance of uncertainty (IU), and anxiety mediate the relationship between SP ...
Heather L. Moore, Samuel Brice, Natalya Spraggon, Barry Ingham, Mark Freeston, Jeremy R. Parr, Jacqui Rodgers   +6 more
wiley   +1 more source

Editorial: Polygenic Risk Scores in Child Psychiatry, Research Promise, and Potential Clinical Pitfalls. [PDF]

J Am Acad Child Adolesc Psychiatry, 2022
Shaw P.
europepmc   +1 more source