Results 71 to 80 of about 145,378 (214)

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease

Clinical Genetics, EarlyView.
Whole‐exome sequencing of 111 patients with suspected familial cerebral small vessel disease (CSVD) identified novel copy number variants in four patients across NOTCH3, LMNB1, and COL4A2, using bioinformatic and molecular techniques. These validated CNVs suggest structural variation is an underrecognized potential causal contributor to monogenic CSVD ...
Solomon K. Guyler, Neven Maksemous, Rodney A. Lea, Robert A. Smith, Heidi G. Sutherland, Lyn R. Griffiths   +5 more
wiley   +1 more source

Light Chain Monoclonal Gammopathy of Undetermined Significance: Diagnosis, Biology, and Clinical Management

European Journal of Haematology, EarlyView.
ABSTRACT Light chain monoclonal gammopathy of undetermined significance (LC‐MGUS) is defined by an abnormal serum free light chain ratio and elevated involved light chain in the absence of a detectable immunoglobulin heavy chain on immunofixation and of end‐organ damage attributable to a plasma cell disorder.
Sigurður Yngvi Kristinsson, Thórir Einarsson Long, Sigrún Thorsteinsdóttir   +2 more
wiley   +1 more source

Prevalence and Disability of Peripheral Neuropathy in Patients With Waldenström's Macroglobulinemia

European Journal of Haematology, EarlyView.
ABSTRACT Objectives Peripheral neuropathy (PN) is considered a frequent complication of Waldenström's macroglobulinemia (WM). Establishing a causal relationship between PN and WM is complicated by confounding factors such as age‐related axonal loss and diabetes. This scoping review aims to summarize the current evidence on WM‐associated PN with a focus
Morten Müller Aagaard, Kristoffer Nagy Skaastrup, Louise Sloth Kodal, Britt Stævnsbo Pedersen, Troels Hammer, John Vissing, Tina Dysgaard   +6 more
wiley   +1 more source

Diagnostic pathway for cardiac amyloidosis from the healthcare professional’s perspective: results from the French DIAM-ATTR survey

Annals of Medicine
Background Diagnosis of cardiac amyloidosis (CA) is complex and implicates several medical specialists. CA is usually suspected based on symptoms (‘red flags’) and non-invasive imagery.
Silvia Oghina, Damien Legallois, Fabien Hyafil, Walid Amara, Emmanuel Andrès, Thomas Bardin, Pauline Fournier, Sandra Guignard, Céline Labeyrie, Nicolas Piriou, Olivier Toulza, Romain Tresorier, Giorgia Canali, Margaux Dubois, Benoit Bouquillon, Cédric Sauvage, Pierre Sabouret, Philippe Charron, Thibaud Damy   +18 more
doaj   +1 more source

Prevalence of cerebral amyloid pathology in persons without dementia: a meta-analysis

, 2015
Item does not contain fulltextIMPORTANCE: Cerebral amyloid-beta aggregation is an early pathological event in Alzheimer disease (AD), starting decades before dementia onset. Estimates of the prevalence of amyloid pathology in persons without dementia are
Fagan, A.M., Madsen, K., Prabhakar, S., Alcolea, D., Ramakers, I.H., Nordberg, A., Spiru, L., Waldemar, G., Alexander, M., Scheltens, P., Drzezga, A., Zboch, M., Leon, M., Freund-Levi, Y., Herukka, S.K., Hellwig, S., Kohler, S., Sarazin, M., Chetelat, G., Rodriguez-Rodriguez, E., Aalten, P., Ivanoiu, A., Johannsen, P., Teunissen, C.E., Forster, S., Novak, G.P., Blennow, K., Sanchez-Juan, P., Verhey, F.R.J., van Buchem, M.A., Gkatzima, O., Klunk, W.E., Meulenbroek, O., Mroczko, B., Verhey, F.R., Almdahl, I.S., Bibeau, K., Fladby, T., Møllergård, H.M., Struyfs, H., Vos, S.J., Schütte, C., Camus, V., Lleo, A., Frederiksen, K.S., van der Flier, W.M., Baldeiras, I., Hildebrandt, H., Chen, K., Froelich, L., Koglin, N., Lisetti, V., Gordon, M.F., Rowe, C.C., Foskett, N., Meulenbroek, O.V., Kornhuber, J., Mollergard, H.M., Cavedo, E., Gill, K.D., Rodrigue, K.M., Scheltens, P.J., Aarsland, D., Newberg, A., Wolk, D.A., Hampel, H., Roe, C.M., Vandenberghe, R., Parnetti, L., Peters, O., Verbeek, M.M., Tijms, B.M., Ishihara, L., Kramberger, M.G., Mintun, M.A., Rot, U., Zetterberg, H., Villemagne, V.L., Mattsson, N., Morris, J.C., Soininen, H., Mussele, S. Van der, Laere, K. Van, Brooks, D.J., Ossenkoppele, R., de Mendonça, A., Wallin, Å.K., Grimmer, T., Van Laere, K., Landau, S.M., Sabri, O., Na, D.L., Oliveira, C.R., Rinne, J.O., Soetewey, F., Gomez-Tortosa, E., Rüther, E., van Waalwijk van Doorn, L.J., Fleisher, A.S., Kapaki, E., Buchem, M.A. van, Meyer, P.T., Hausner, L., Schröder, J., Berckel, B.N. van, Rabinovici, G.D., Frisoni, G.B., Ford, L., van Berckel, B.N., Rami, L., Gabryelewicz, T., Mendonca, A. de, et al., Fortea, J., Flier, W.M. van der, Wallin, A., Jansen, W.J., Visser, P.J., Knol, D.L., Maier, W., Cohen, A.D., Lee, D.Y., Wiltfang, J., Paraskevas, G.P., Mok, V., Arnold, S.E., Marcusson, J., Tsolaki, M., Barthel, H., Santana, I., Klimkowicz-Mrowiec, A., Molinuevo, J.L., Engelborghs, S., Resende de Oliveira, C., Nordlund, A., Perera, G., de Leon, M., Kandimalla, R., Popp, J., Jagust, W.J., Seo, S.W., Van der Mussele, S.   +141 more
core   +1 more source

Proteostasis of organelles in aging and disease

The FEBS Journal, EarlyView.
Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi, Cansu Doğan, Dunja Petrović, Gülce Perçin, Seda Koyuncu, David Vilchez   +5 more
wiley   +1 more source

Familial Amyloid Polyneuropathy Type IV (FINNISH) with Rapid Clinical Progression in an Iranian Woman: A Case Report

Iranian Journal of Medical Sciences, 2016
Familial amyloid polyneuropathy (FAP) type IV (FINNISH) is a rare clinical entity with challenging neuropathy and cosmetic deficits. Amyloidosis can affect peripheral sensory, motor, or autonomic nerves.
Arash Babaei-Ghazani, Bina Eftekharsadat   +1 more
doaj  

Early‐Onset Wild‐Type Transthyretin Amyloidosis Polyneuropathy

Muscle &Nerve, EarlyView.
Chafic Karam, Kaylee Baker, Sami Khella, Brian Drachman, Pranav Chandrashekar, MacLean Nasrallah, Shunsuke Koga, Janice Pieretti   +7 more
wiley   +1 more source

Periodontitis and Diabetes: Mechanistic Evidence of a Circular Relationship

Journal of Periodontal Research, EarlyView.
This narrative review aimed to explore the underlying mechanisms that connect periodontitis to diabetes (and vice versa) and that influence disease susceptibility, progression and response to treatment. ABSTRACT The circular relationship between periodontitis and diabetes mellitus is one of the most established oral‐systemic links.
Philip M. Preshaw, Ren Jie Jacob Chew, Charlene Enhui Goh, Ali A. Abdulkareem, Dana T. Graves   +4 more
wiley   +1 more source

The Maintenance of Dysmyelinated Small‐Diameter Axons by 14‐3‐3s in the Central Nervous System

Glia, Volume 74, Issue 11, November 2026.
Dysmyelinated small‐diameter axons are maintained in teneurin‐4 deficient mice at the age of 1 year, while axonal damage is observed. 14‐3‐3s are highly expressed and suppress the progression of the damage in these axons. ABSTRACT In the central nervous system, myelin formed around nerve axons by oligodendrocyte enables efficient conduction of action ...
Nanako Yamada, Hinako Saito, Riko Takahashi, Mio Fujisato, Yukina Hosoda, Binri Sasaki, Momona Yamada, Sakurako Abe, Chikako Hayashi, Akira Yoshimoto, Ryunosuke Ohkawa, Tomal Julian Matt, Florence M Bareyre, Stefan Berghoff, Mikael Simons, Nobuharu Suzuki   +15 more
wiley   +1 more source