Results 221 to 230 of about 1,089,261 (313)

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Correction: Thyroid peroxidase antibodies in bipolar disorder: implications for clinical sub-phenotypes and lithium response. [PDF]

Int J Bipolar Disord
Pathak BD, Ercis M, Solares-Bravo M, Ghafouri N, Singh B, Ozerdem A, Park JH, Ceylan D, Coombes BJ, Romo-Nava F, Veldic M, Cuellar-Barboza A, Gardea-Resendez M, Baum ML, Burdick KE, Stan MN, McElroy SL, Biernacka JM, Frye MA.   +18 more
europepmc   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

A framework for Global Child and Adolescent Mental Health (GC-CAMH) Curriculum: why the world cannot wait. [PDF]

Child Adolesc Psychiatry Ment Health
Mohan R, Mian A, Silva FD, Cawthorpe D, Qayyum Z.   +4 more
europepmc   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

Functional Outcome Prediction in Young Adults With Mental Health Symptoms Using Machine Learning and Large Language Models: Longitudinal Observational Study. [PDF]

JMIR Ment Health
Mikolas P, Huth F, Bröckel-Bundt K, Berndt C, Martini J, Maicher B, Marxen M, Verhees FG, Henneberg PM, Vogelbacher C, Jansen A, Kircher T, Falkenberg I, Thomas-Odenthal F, Lambert M, Kraft V, Leicht G, Mulert C, Fallgatter AJ, Ethofer T, Rau A, Leopold K, Bechdolf A, Andreas R, Matura S, Repple J, Bermpohl F, Fiebig J, Stamm T, Correll CU, Juckel G, Flasbeck V, Wiest IC, Kather JN, Dannlowski U, Mennigen E, Ritter P, Bauer M, Pfennig A.   +38 more
europepmc   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Correction: Pharmacotherapy of major depressive disorder in older adults: from an evidence-informed stepwise algorithm to precision medicine. [PDF]

Neuropsychopharmacology
Lenze EJ, Karp JF, Gebara MA, Nicol GE, Mulsant BH.   +4 more
europepmc   +1 more source

Genome‐Wide Association Study of Symptom Change Following Cognitive Behavioral Therapy for Common Mental Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Cognitive behavioral therapy (CBT) is a well‐established, evidence‐based treatment for common mental disorders such as depression, anxiety disorders, and obsessive‐compulsive disorder (OCD). However, treatment outcomes vary widely, and a substantial proportion of patients do not achieve sufficient improvement.
Julia Bäckman, Olly Kravchenko, Matthew Halvorsen, Elles de Schipper, Ekaterina Ivanova, Viktor Kaldo, Nils Hentati Isacsson, Thorstein Olsen Eide, Kira D. Höffler, Manuel Mattheisen, Bjarne Hansen, Gerd Kvale, Kristen Hagen, Jan Haavik, David Mataix‐Cols, James J. Crowley, John Wallert, Christian Rück, Nordic OCD and Related Disorders Consortium (NORDiC), Julia Bäckman, Long‐Long Chen, James J. Crowley, Elles de Schipper, Diana Pascal, Jan Haavik, Kristen Hagen, Matthew W. Halvorsen, Bjarne Hansen, Kira D. Höffler, Fredrik Johansson, Anna K. Kähler, Elinor K. Karlsson, Gerd Kvale, Paul Lichtenstein, Kerstin Lindblad‐Toh, Manuel Mattheisen, David Mataix‐Cols, Kathleen Morrill, Christian Rück, Thorstein Olsen Eide, Nora I. Strom, John Wallert   +41 more
wiley   +1 more source

Retraction: Impaired potentiation of theta oscillations during a visual cortical plasticity paradigm in individuals with schizophrenia. [PDF]

Front Psychiatry
Frontiers Editorial Office.
europepmc   +1 more source