Results 171 to 180 of about 249,115 (256)

Low-Dose Lithium for Mild Cognitive Impairment: A Pilot Randomized Clinical Trial.

JAMA Neurol
Gildengers AG, Ibrahim TS, Anderson SJ, Emanuel JE, Santini T, Diaz JL, Lopresti BJ, Royse SK, Lopez OL, Zeng X, de Almeida B, Alkhateeb SK, Chu C, Karikari TK, Lee L, Weinstein AM, Butters MA.   +16 more
europepmc   +1 more source

Increased incidence of mild cognitive impairment in long COVID patients. [PDF]

Alzheimers Dement
Frontera JA, Masurkar AV, Betensky RA, Alvarez Z, Boutajangout A, Chodosh J, Hammam S, Hunter J, Jiang L, Li M, Links J, Marsh K, Pang H, Silva F, Thawani S, Vasilchenko D, Vedvyas A, Yakubov A, Ge Y, Wisniewski T.   +19 more
europepmc   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Mild cognitive impairment-to-Alzheimer's dementia progression risk: the contribution of the Interceptor project. [PDF]

Alzheimers Dement
Lombardo FL, Caraglia N, Lorenzini P, Vanacore N, Cappa SF, Cotelli M, Iodice F, Marra C, Miraglia F, Pappalettera C, Perani D, Quaranta D, Redolfi A, Spadin P, Tagliavini F, Vecchio F, Rossini PM, INTERCEPTOR Network.   +17 more
europepmc   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Hippocampal Subfield Susceptibility Alterations in Mild Cognitive Impairment Revealed by 7T MRI. [PDF]

AJNR Am J Neuroradiol
Zheng G, Yu FF, Huang Y, Mazumder S, Vargas SL, Unschuld PG, Kagerer SM, Li X, Liu J.   +8 more
europepmc   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Vagus Nerve Stimulation in Alzheimer's Disease and Mild Cognitive Impairment: Current Evidence and Future Directions. [PDF]

NeuroSci
Narramore R, Aziz M, Baig S, Balami JS, Majid A, Ali AN.   +5 more
europepmc   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source