Results 241 to 250 of about 39,488 (289)

Screening for brain‐related comorbidities in Duchenne muscular dystrophy: Construction, reliability, and validity of the BIND screener

Developmental Medicine &Child Neurology, EarlyView.
The Brain Involvement iN Dystrophinopathies (BIND) screener is an 18‐item questionnaire with strong reliability and validity for identifying potential brain‐related comorbidities in Duchenne muscular dystrophy. It allows rapid, cross‐age and cross‐country screening for both clinical and research purposes, demonstrating good sensitivity and specificity.
Ruben Miranda, Pien M. M. Weerkamp, Anna Kolesnik, Chloe Geagan, Daniela Chieffo, Mariana Suárez‐Bagnasco, David Skuse, Elizabeth Vroom, Erik H. Niks, John Vissing, Isabelle Desguerre, Volker Straub, Francesco Muntoni, Eugenio Mercuri, Jos G. M. Hendriksen, on behalf of BIND Consortium, Nathalie Angeard, Dimitrios Athanasiou, Suzie‐Ann Bakker, Nathalie Boddaert, Ellie Drummond, Chloe Durrlemann, Fernanda Fortunato, Luis Miguel García‐Moreno, Mattia Gervasi, Rosanne Govaart, Irina Guliaeva, Catherine Hankinson, Leslie Hemar, Rebecca Hendel, Hermien Kan, Leevi Kerkela, Gregory Landon, Monika Malinova, William Mandy, Federica Moriconi, Monia Pellizzari, Sarah Poncet, Elvina Sakellariou, Sergiu Siminiuc, Anna Würgler Slipsager, Lily Smythe, Pietro Spitali, Mads Peter Godtfeldt Stemmerik, Asmus Vogel, Jeanne Wolstencroft, Camilla Zanetti   +46 more
wiley   +1 more source

A Roadmap for Accelerating Research in Intellectual and Developmental Disabilities Using PCORnet®. [PDF]

Med Care
Franklin MS, Dolor RJ, Hendren S, Jelliffe-Pawlowski L, Wiley S, Myers SM, Quiñones A, Nowell K, Kanne SM, Kramer JM, Thompson B, Thomas E, Bello J, Pham HMH, Maslow GR.   +14 more
europepmc   +1 more source

Developmental stuttering with common and complex phenotypes

Developmental Medicine &Child Neurology, EarlyView.
Aim To describe the phenotypic spectrum associated with stuttering. Method Individuals with current or resolved developmental stuttering self‐referred. Surveys assessed stuttering characteristics (onset, negative impact, family history) and health (early development, other conditions). Speech and non‐verbal intelligence were assessed using conversation
Sarah E. Horton, Daisy A. Shepherd, Stephanie Siemers, Miya St John, Juliette Catherall, Ingrid E. Scheffer, Angela T. Morgan   +6 more
wiley   +1 more source

Sleep and activity patterns in autism. [PDF]

Autism
Weissenkampen JD, Ghorai A, Carneiro TN, Fasolino M, Gehringer BN, Rajan M, Dow HC, Kunatharaju S, Roenneberg T, Sebro R, Rader DJ, Keenan BT, Almasy L, Brodkin ES, Bućan M.   +14 more
europepmc   +1 more source

Functional divergence of protein kinase A regulatory subunit Iβ variants: the importance of N3A motifs in PKA regulation

The FEBS Journal, EarlyView.
The regulatory subunit RIβ of protein kinase A occurs in two variants that differ at residue 268 (A268 versus R268). This seemingly small substitution significantly changes cAMP sensitivity, basal kinase activity, and the dynamic behavior of the regulatory domains.
Maximilian Wallbott, Jui‐Hung Weng, Valeria Pane, Yuliang Ma, Jian Wu, Susan S. Taylor, Friedrich W. Herberg   +6 more
wiley   +1 more source

Epigenome-wide analysis identifies DNA methylation signatures associated with the infant pupillary light reflex, a candidate intermediate phenotype for autism. [PDF]

Sci Rep
Fish LA, Gliga T, Gui A, Ali JB, Mason L, Johnson MH, Charman T, Falck-Ytter T, Jones EJH, Kandaswamy R, Happé F, Wong CCY.   +11 more
europepmc   +1 more source

The R203W substitution drives PACS‐1 syndrome by disrupting intramolecular regulation

The FEBS Journal, EarlyView.
The middle region (MR) of PACS‐1 controls engagement with specific partner proteins. This manuscript presents the structure of the Furin binding region (FBR) and how interactions with partners are regulated through the interplay between a basic patch in the FBR and an acidic cluster in the MR.
Troy C. Krzysiak, In‐Ja L. Byeon, Ryan Ponticelli, Mary E. Lucas, Lariah Thompson, Christopher DeHaven, Gary Thomas, Angela M. Gronenborn   +7 more
wiley   +1 more source

Cognitive and emotional profiles in children with ASD, ADHD, and comorbid presentations: evidence for a distinct clinical phenotype. [PDF]

Front Psychiatry
Narzisi A, Barbetti F, Fabbri-Destro M, Berloffa S, Fantozzi P, Viglione V, Muccio R, Valente E, Accorinti I, Foti E, Milone A, Cardillo R, Masi G.   +12 more
europepmc   +1 more source

Interstitial 12p Deletion Syndrome: Revised Minimal Critical Region and Review of the Literature. [PDF]

Genes (Basel)
Privitera F, Pagano S, Cipriano L, Nutile G, Milone A, Santorelli FM.   +5 more
europepmc   +1 more source

Through Their Eyes: Investigating the Broad Autism Phenotype in Parents

Journal of Vision
Elena Esposito, Vanessa Harwood, Alisa Baron   +2 more
openaire   +1 more source