Results 91 to 100 of about 78,835 (252)

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

Participant food tracking in psychiatric ketogenic metabolic therapy: an unresolved clinical, psychosocial, and implementation question

Frontiers in Nutrition
Participant food tracking in psychiatric ketogenic metabolic therapy (KMT) varies across the metabolic psychiatry literature but is reported inconsistently rather than examined as a delivery decision with its own clinical rationale and consequences. This
Nicole Laurent
doaj   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Cerebellar dysregulation and heterogeneity of mood disorders

Neuropsychiatric Disease and Treatment, 2014
Edward H Tobe Department of Psychiatry, Cooper Medical School of Rowan University, Camden, NJ, USA Abstract: This paper discusses diverse studies to consider the hypothesis that cerebellar pathology supports the heterogeneous metabolic pathologies of ...
Tobe EH
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UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

Direct Regioselective para‐Fluorination via I(I)/I(III) Catalysis

Angewandte Chemie, EarlyView.
A direct, para‐selective fluorination by I(I)/I(III) catalysis is disclosed that does not require substrate pre‐functionalization. This strategy leverages the Leonard link inherent to phenylpropanoate and phenylpropanamides to promote a spirocyclization/para‐selective sequence. The C3‐side chain maps onto a range of common drug scaffolds and allows the
Christoph Roblick, Julian D. Bendix, Timothy A. Hilton, Kathrin Bussmann, Constantin G. Daniliuc, Ryan Gilmour   +5 more
wiley   +2 more sources

Shared neurobiological changes in individuals with Crohn’s disease and major depressive disorder

Communications Medicine
Background Emerging evidence highlights the profound impact of the central nervous system on the gut. This is particularly evident in inflammatory bowel disease, where psychological stress has been shown to modulate the inflammatory response and precede ...
Hanna A. Hartmann, Marja L. Berthold, Shukti Ramkiran, Lukas Bündgens, Julius W. Jaeger, Jana Hagen, Maria Backhaus, Maria Collée, Gereon J. Schnellbächer, Tanja Veselinović, N. Jon Shah, Kai M. Schneider, Ravichandran Rajkumar, Irene Neuner   +13 more
doaj   +1 more source

Trace Elements Genetics: A Potential Role in Treatment‐Resistant Major Psychoses and Related Traits?

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Trace elements are pivotal to key biological processes, with possible effects on psychopathology. We investigated the hypothesis of shared genetic factors between trace elements levels, treatment resistance and related traits. We used genome‐wide summary statistics for trace elements blood concentration, treatment‐resistant depression (TRD ...
Chiara Fabbri, Alessandro Serretti, Marco Menchetti, Benedetta Vai, Francesco Benedetti, Lidia Fortaner‐Uyà, Concetta Crisafulli   +6 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Psychological Distress and Disordered Eating in Adults Attending an Obesity Outpatient Clinic

Diabetes, Metabolic Syndrome and Obesity
Katarzyna Cyranka,1– 3 Zofia Zych,4 Katarzyna Cyganek,3,5 Maciej T Małecki,3,5 Krzysztof Styczeń,2,3 Martyna Pietruś,1,3 Dominika Dudek,2,3 Tomasz Klupa,3,6 Bartłomiej Matejko1,3,6 1Psychodiabetology Unit ...
Cyranka K, Zych Z, Cyganek K, Małecki MT, Styczeń K, Pietruś M, Dudek D, Klupa T, Matejko B   +8 more
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