Results 151 to 160 of about 28,083 (302)

Longitudinal Behavior Phenotype Hallmarks in RNU4‐2 Syndrome: Implications for Clinical Management

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 3, Page 205-211, April 2026.
ABSTRACT Pathogenic variants in the non‐coding spliceosomal gene RNU4‐2 underlie ReNU syndrome, one of the most prevalent monogenic causes of neurodevelopmental disorders, accounting for ~0.4% of cases. Despite increasing recognition, little is known about the longitudinal behavioral and neuropsychiatric phenotype of affected individuals. We report two
Paola Francesca Ajmone, Claudia Rigamonti, Francesca Brasca, Donatella Milani, Chiara Ranci Ortigosa, Maria Iascone, Lucrezia Goisis, Annalaura Torella, Maria Antonella Costantino   +8 more
wiley   +1 more source

Consensus statement for the management of incidentally found brain white matter hyperintensities in general medical practice [PDF]

, 2023
Thomas Ottavi, Elizabeth Pepper, Grant A. Bateman, Mark Fiorentino, Amy Brodtmann   +4 more
openalex   +1 more source

ASL 4D MRA Intracranial Vessel Segmentation With Deep Learning U‐Nets

Magnetic Resonance in Medicine, Volume 95, Issue 4, Page 2384-2396, April 2026.
ABSTRACT Purpose To propose a spatio‐temporal U‐Net based network (4DST) that exploits both spatial and dynamic information while avoiding memory‐intensive 4D convolutional layers for ASL‐based non‐contrast enhanced 4‐dimensional MR angiography (4D MRA) vessel segmentation.
Sang Hun Chung, Zihan Wang, Tianrui Zhao, Zhitao Li, Chase S. Krumpelman, Sarah J. Moum, Sameer A. Ansari, Lirong Yan   +7 more
wiley   +1 more source

The correlation between medial pattern of intracranial arterial calcification and white matter hyperintensities [PDF]

, 2023
Heng Du, Jianrong Zheng, Xuelong Li, Yanjing Dong, Yajing Cheng, Cong Liu, Jun Hu, Xiangyan Chen   +7 more
openalex   +1 more source

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

Clinical Genetics, Volume 109, Issue 4, Page 784-787, April 2026.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou, Helen Turner, Deborah Shears, Fredrik Karpe   +3 more
wiley   +1 more source

An Autopsy Case With Fragile X‐Associated Tremor/Ataxia Syndrome Presenting Intranuclear Inclusion Bodies Mainly in the Limbic System

Neuropathology, Volume 46, Issue 2, April 2026.
ABSTRACT Fragile X‐associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder characterized by a late onset and slow progression caused by a premutation (55–200 CGG repeat) in the fragile X mental retardation (FMR1) gene. Here, we report the case of a Japanese patient with FXTAS which is the first case autopsied in Japan. The patient was
Ayako Shioya, Kazuhiro Ishii, Taiki Sato, Masayuki Noguchi, Akira Tamaoka, Yuko Saito   +5 more
wiley   +1 more source

White Matter Hyperintensities and Neuropsychiatric Symptoms in Neurodegenerative Diseases. [PDF]

J Clin Neurol
Katakami S, Kanemoto H, Taomoto D, Satake Y, Suehiro T, Sato S, Yoshiyama K, Kashibayashi T, Takahashi R, Tagai K, Shinagawa S, Ishii K, Kazui H, Ikeda M.   +13 more
europepmc   +1 more source

When Weak Becomes Strong: Robust Quantification of White Matter Hyperintensities in Brain MRI scans [PDF]

, 2020
Oliver Werner, Kimberlin M. H. van Wijnen, Wiro J. Niessen, Marius de Groot, Meike W. Vernooij, Florian Dubost, Marleen de Bruijne   +6 more
openalex   +1 more source

NOTCH3 CADASIL Variant Receptor Aggregation Requires NOTCH3 Wild‐Type Receptors: Identification of Highly Selective Inhibitors That Block the Process

The FASEB Journal, Volume 40, Issue 6, 31 March 2026.
CADASIL is the major cause of early‐onset stroke and cognitive dysfunction, including dementia. It is caused by mutations in the NOTCH3 receptor that result in the formation of protein aggregates in the small vessel walls of the brain. We demonstrated that NOTCH3 CADASIL variant receptor aggregation is strictly dependent on interactions with NOTCH3 ...
Haijiang Wang, Xinxin Liu, Gido Gravesteijn, Alessia Atella, Jin Liu, Julie W. Rutten, Peter ten Dijke, Manuel A. F. V. Gonçalves, Saskia A. J. Lesnik Oberstein, David A. Baker   +9 more
wiley   +1 more source

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series

Annals of Clinical and Translational Neurology, Volume 13, Issue 3, Page 453-465, March 2026.
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun, Ozgu Kizek, Sibel Aylin Ugur Iseri, Ibrahim Kamaci, Ayse Deniz Elmali, Pinar Iscen, Berfin Gulkaya Guzel, Gul Yalcin Cakmakli, Bulent Elibol, Berril Donmez, Raif Cakmur, Pinar Topaloglu, Turkish NBIA Study Group, Abdullah Acar, Ahmet Acarer, Arzu Karabay, Asuman Ali, Ayla Barlas, Aysegul Gunduz, Banu Ozen Barut, Baris Baslo, Bilge Kocer, Bilgehan Mus, Birsen Karaman, Burcu Gokce Cokal, Cem Ismail Kucukali, Cenk Akbostanci, Ceyhun Sayman, Cagla Turan, Dilek Ince Gunal, Ebru Bilge Dirik, Ebru Erzurumluoglu, Elif Kocasoy Orhan, Enes Demiryurek, Emrah Yucesan, Ercan Kose, Erdem Tuzun, Esen Saka Topcuoglu, Esra Okuyucu, Fatma Betul Ozdilek, Feriha Ozer, Gencer Genc, Gozde Unal, Gulay Kenangil, Gullu Tarhan, Gunes Kiziltan, Halil Onder, Hamit Genc, Hasmet Hanagasi, Hatice Yuksel, Hulya Apaydin, Koray Kirimtay, Mehmet Guney Senol, Melisa Kilic, Meltem Demirkiran, Mert Karaca, Miray Erdem, Muhammet Bilgehan Mus, Murat Gultekin, Nalan Capan, Nazan Karagoz Sakalli, Nazli Basak, Nihan Hande Akcakaya, Ozan Ezer, Ozge Uygun, Ozge Yilmaz Kuspeci, Ozgur Oztop Cakmak, Pervin Iseri, Petek Ballar Kirmizibayrak, Pinar Elkoca, Recep Alp, Remzi Yigiter, Rezzak Yilmaz, Sadika Ozdemir, Selda Keskin, Selen Ilhan Alp, Selen Soylu, Serdar Ceylaner, Serhat Ozkan, Sevda Erer Ozbek, Sevgin Gundogan, Sevil Yasufli, Sezin Alpaydin Baslo, Sibel Ertan, Sultan Cagirici, Seyma Aykac, Vuslat Yilmaz, Yaprak Secil, Yasar Kutukcu, Yeliz Ciftci, Yesim Sucullu Karadag, Yildiz Değirmenci, Zeliha Matur, Nerses Bebek, Murat Emre, Zuhal Yapici   +95 more
wiley   +1 more source