Results 241 to 250 of about 5,994,958 (304)

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

Impact of Father Involvement and Positive Parenting on Child Mental Health: Insights From a Survey of Ugandan Households. [PDF]

Fam Process
Asiimwe R, Welch T, Dwanyen L, Kasujja R, Mugumya F, Blow AJ, Mussa K.   +6 more
europepmc   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Delineating specificity in parental responses to children's distress: Associations with neighborhood risk and children's socioemotional outcomes. [PDF]

Dev Psychol
Twal LR, Sturge-Apple ML, Davies PT.
europepmc   +1 more source

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

Swedish preschool teacher's preferences and experiences of an applied learning intervention to support children with ESSENCE symptoms. [PDF]

Ann Gen Psychiatry
Gustafsson BM, Levander MS.
europepmc   +1 more source

Exploring intergenerational risk factors and mediators for child abuse potential in high-risk parents of young children. [PDF]

Front Pediatr
Keppler D, Reindl V, Herpertz-Dahlmann B, Konrad K.   +3 more
europepmc   +1 more source

Association between maternal organophosphate esters metabolite levels during pregnancy and internalizing and externalizing behaviors in children at 2-5 years. [PDF]

Environ Epidemiol
Cheng Y, Abrishamcar S, Ma T, Eick SM, Barr DB, Hoffman N, Andra SS, Chovatiya J, Jagani R, Wright RO, Zar HJ, Stein DJ, Huels A.   +12 more
europepmc   +1 more source

The Role of Fathers in the Intergenerational Transmission of Obesity. [PDF]

Curr Obes Rep
Landry MJ, Parker JJ.
europepmc   +1 more source