Results 141 to 150 of about 7,881,496 (248)

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Blood-brain barrier leakage in relation to white matter hyperintensity volume and cognition in small vessel disease and normal aging

, 2018
Blood-brain barrier (BBB) leakage increases with age and is involved in the pathophysiology of cerebral small vessel disease (cSVD). We examined the relationship between BBB leakage and white matter hyperintensity (WMH) volume and cognition, in cSVD ...
Robert J. van Oostenbrugge, Renske Uiterwijk, Walter H. Backes, van Oostenbrugge, Robert J., Jeukens, Cecile R. L. P. N., Jacobus F. A. Jansen, Staals, Julie, Wong, Sau May, Zhang, C. Eleana, Uiterwijk, Renske, Jansen, Jacobus F. A.; id_orcid, Cécile R. L. P. N. Jeukens, Julie Staals, Sau May Wong, Jansen, Jacobus F. A., Backes, Walter H., C. Eleana Zhang   +16 more
core   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Cerebral small vessel disease and silent cerebrovascular diseases: Modern standards of diagnosis, prevention, treatment prospects

, 2019
© 2019, Media Sphera Publishing Group. All rights reserved. The review presents modern clinical and radiological criteria for cerebral small vessel disease and silent cerebrovascular diseases.
Khairullin I., Esin O., Abrarova G., Esin R.   +3 more
core  

Association between Computed Tomographic Biomarkers of Cerebral Small Vessel Diseases and Long-Term Outcome after Spontaneous Intracerebral Hemorrhage. [PDF]

Ann Neurol, 2021
Rodrigues MA, E Samarasekera N, Lerpiniere C, Perry LA, Moullaali TJ, J M Loan J, Wardlaw JM, Al-Shahi Salman R, Lothian Audit of the Treatment of Cerebral Haemorrhage Collaborators.   +8 more
europepmc   +1 more source

Animal stroke models and outcome evaluation: A review

Animal Models and Experimental Medicine, EarlyView.
Rodents are the preeminent stroke model species. Large animal models exist too, but are poorly standardized. Ischemic and hemorrhagic experimental models are available, with the intraluminal filament model being predominant. Outcomes are evaluated via quantifying subjects' sensorimotor impairment, cognitive memory faculties, degree of cellular ...
Solsa Cariba, Helen M. Atkinson, Anthony K. C. Chan   +2 more
wiley   +1 more source

Blood Biomarkers of Alzheimer's Disease and Patterns of Structural Brain Changes in the Community

Annals of Neurology, EarlyView.
Objective We aimed to investigate the associations between Alzheimer's disease (AD)‐related blood biomarkers and changes in brain volumes and cerebrovascular burden in community‐dwelling older adults. Methods We included 361 dementia‐free participants with a Mini‐Mental State Examination (MMSE) score ≥ 27 and without prior cerebrovascular events from a
Martina Valletta, Davide Liborio Vetrano, Erika J. Laukka, Grégoria Kalpouzos, Javier Oltra, Debora Rizzuto, Marco Canevelli, Claudia Fredolini, Chengxuan Qiu, Bengt Winblad, Laura Fratiglioni, Giulia Grande   +11 more
wiley   +1 more source

Multimodal Characterization of Glymphatic‐Related Magnetic Resonance Imaging Markers in Huntington's Disease: A Multi‐Cohort Retrospective Study

Annals of Neurology, EarlyView.
Objective To characterize magnetic resonance imaging (MRI)‐based glymphatic surrogates in Huntington's disease (HD) using MRI measures of perivascular diffusivity and structural perivascular alterations across multiple large cohorts. Methods We analyzed 2,731 MRI sessions from 880 participants across 3 large retrospective HD cohorts.
Alexia Solomon, Zexi Wang, Francesco Sanvito, Zheng Zhou, Adys Mendizabal, Jingwen Yao   +5 more
wiley   +1 more source

Rationale and design of a longitudinal study of cerebral small vessel diseases, clinical and imaging outcomes in patients presenting with mild ischaemic stroke: Mild Stroke Study 3. [PDF]

Eur Stroke J, 2021
Clancy U, Garcia DJ, Stringer MS, Thrippleton MJ, Valdés-Hernández MC, Wiseman S, Hamilton OK, Chappell FM, Brown R, Blair GW, Hewins W, Sleight E, Ballerini L, Bastin ME, Maniega SM, MacGillivray T, Hetherington K, Hamid C, Arteaga C, Morgan AG, Manning C, Backhouse E, Hamilton I, Job D, Marshall I, Doubal FN, Wardlaw JM.   +26 more
europepmc   +1 more source