Results 111 to 120 of about 120,348 (308)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Parental involvement after separation/divorce / O envolvimento parental após a separação/divórcio

Psicologia: Reflexão e Crítica, 2010
Based on the ecological-contextual model and on the concept of parental involvement, this article proposes to discuss the parental practices of separated/divorced fathers and mothers towards their children.
Luciana Suárez Grzybowski, Adriana Wagner   +1 more
doaj  

Risk factors for obesity development in Caucasian and Zulu women : personal and parental weight history, weight management practices, eating behaviour and taste sensitivity : a case-control study [PDF]

, 2011
Obesity is a significant health problem in South Africa and the need for intervention in this regard has been emphasized. Existing information indicates that modifiable risk factors such as diet and physical activity may be contributing to this problem ...
Herrmann, Fiona
core  

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

Parental feeding practices in New Zealand [PDF]

, 2013
Background: Although various parental feeding practices have been associated with dietary intake and body weight in children, many studies are limited by sample size or lack of diversity, perhaps explaining conflicting results.
Haszard, Jillian Joy
core   +3 more sources

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

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, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

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, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

Effect of instructional guidelines on the parents’ care of neonates with neural tube defects

Discover Public Health
Background Neural tube defects (NTDs) represent the most common congenital anomalies of the central nervous system in pediatric populations, posing significant challenges for both neonatal care and parental wellbeing.
Asmaa Khamis Abdel Baset, Safaa Salah Ismail, Hyam Refaat Tantawi   +2 more
doaj   +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, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Adolescents’ appraisal and disclosure mediate the links between parental practices and adolescents’ digital citizenship behaviors

Humanities & Social Sciences Communications
Parenting-related factors are associated with adolescents’ online behaviors. However, the relationship between parenting and digital citizenship behaviors in adolescents and the variables underlying these relations must be clarified.
Agustín Morales-Álvarez, Angel Alberto Valdés-Cuervo, Lizeth Guadalupe Parra-Pérez, Fernanda Inéz García-Vázquez, María Fernanda Durón-Ramos   +4 more
doaj   +1 more source