Results 61 to 70 of about 78,454 (292)

Single‐Cell Omics Analysis of Human Basophils Reveals Two Transcriptionally Distinct Populations

Allergy, EarlyView.
Integrated single‐cell transcriptomics and large‐scale immunophenotyping reveal the molecular landscape of human basophils. Circulating basophils comprise two transcriptionally distinct populations. A user‐friendly web resource enables interactive exploration of the generated data.
Sofia Papavasileiou, Jiezhen Mo, Daryl Boey, Chenyan Wu, Magnus Tronstad, Lucille Margerie, Remi‐André Olsen, Jörg A. Bachmann, Jing Hui Low, Jocelyn Ong, Lars Heede Blom, Anand Kumar Andiappan, Gunnar Nilsson, Joakim S. Dahlin   +13 more
wiley   +1 more source

Descripción del gran ataque histérico.

Revista de la Asociación Española de Neuropsiquiatría, 1981
Los autores reconocen dos especies de histero-epilepsia: la histero-epilepsia de crisis distintas, en la que los síntomas de histerismo y de epilepsia se manifiestan separadamente en crisis que no se confunden nunca, y son unas veces ataques de ...
JM Charcot
doaj  

Effect of Diabetes Mellitus, Peripheral Neuropathy, or Charcot Arthropathy on Workers Compensation Claims

Foot & Ankle Orthopaedics, 2016
Category: Diabetes Introduction/Purpose: Charcot neuroarthropathy is a complication of peripheral neuropathy commonly resulting from diabetes mellitus. The actual trigger for a Charcot neuroarthropathy episode is unknown.
J. Speight Grimes MD, Jefferson J. Murphree MD   +1 more
doaj   +1 more source

A novel single-point mutation of NEFH and biallelic SACS mutation presenting as intermediate form Charcot-Marie-Tooth: A case report in Vietnam [PDF]

, 2022
Anh Tuan Truong, Anh Thi Lan Luong, Linh Hai Nguyen, Huong Van Nguyen, Diep Ngoc Nguyen, Ngoc Thi Minh Nguyen   +5 more
openalex   +1 more source

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy [PDF]

, 2015
OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Al-Lozi, Muhammad T, Baas, Frank, Baloh, Robert H, Benatar, Michael, Calissano, Mattia, Chong, W K Kling, Cirak, Sebahattin, Connolly, Anne M, de Goede, Christian G E L, De Visser, Marianne, Fallon, Penny, Foley, A Reghan, Hadjikoumi, Irene, Hafezparast, Majid, Harms, Matthew B, Klein, Andrea, Mansour, Sahar, Manzur, Adnan Y, Martínez Arroyo, Amaia, Mcwilliam, Catherine, Mercuri, Eugenio, Muntoni, Francesco, Nixon, John, Overweg-Plandsoen, W C G Truus, Phadke, Rahul, Pitt, Matthew, Reilly, Mary M, Robb, Stephanie, Rodriguez Sanz, Aida, Rossor, Alexander M, Scoto, Mariacristina, Sewry, Caroline, Taylor, J Paul, Yang, Michele   +33 more
core   +1 more source

Cutaneous Crystal‐Storing Histiocytosis With Marginal Zone Lymphoma. A Case Report With A Striking Clinic Presentation

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Cutaneous crystal‐storing histiocytosis (CSH) is an extremely rare histopathologic finding of histiocytes accumulating crystals of immunoglobulin or paraproteins, often associated with lymphoplasmacytic malignancies. It commonly presents in a wide age range of both female and male adults with a history of a lymphoproliferative disorder ...
Ashton Arlen, Brad S. Graham, Gregory A. Hosler, Marsha C. Kinney   +3 more
wiley   +1 more source

Charcot and Brazil [PDF]

Arquivos de Neuro-Psiquiatria, 2001
OBJECTIVE: To describe the relationship between Professor Charcot and Brazil. BACKGROUND: During the XIX century, French Neurology and its most prominent figure, Professor Charcot, dominated the area of nervous system diseases in the world.
Hélio A. Ghizoni Teive, Sérgio M. Almeida, Walter Oleschko Arruda, Daniel S. Sá, Lineu C. Werneck   +4 more
doaj   +1 more source

Infected Charcot spine [PDF]

Spinal Cord, 2005
Case report of an infected Charcot spine following spinal cord injury.To describe this very rare pathological condition and the results of surgical treatment.A department of orthopaedic surgery in Japan.A 44-year-old man presented with a destructive lesion in the lumbo-sacral spine and a fistula in his back.
Y, Suda, M, Saito, M, Shioda, H, Kato, K, Shibasaki   +4 more
openaire   +2 more sources

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. [PDF]

, 2019
Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases ...
Accogli, Andrea, Ben-Omran, Tawfeg, Bernard, Geneviève, Chowdhury, Shimul, Crawford, John R, Dimmock, David, Friedman, Jennifer, Gleeson, Joseph G, Guerrero, Kether, Hildreth, Amber, Issa, Mahmoud Y, James, Kiely N, Kingsmore, Stephen F, Koehler, Alanna E, Lo, Wing-Sze, Mendes, Marisa I, Musaev, Damir, Nahas, Shareef, Omar, Tarek EI, Salomons, Gajja S, Smith, Desiree E, Stanley, Valentina, Tran, Luan T, Wang, Rengang, Wigby, Kristen, Wright, Meredith S, Xu, Zhiwen, Zaki, Maha S, Zhai, Liting   +28 more
core   +2 more sources

Banting memorial lecture 2025: Aligning clinical practice, policy and research

Diabetic Medicine, EarlyView.
Abstract National clinical leadership, on a background of clinical practice and clinical research, provides unique perspectives. I have focused the Banting Memorial Lecture 2025 on the implementation of national programmes across England since 2013, for which, along with colleagues at NHS England, I successfully made the case for investment, led the ...
Jonathan Valabhji
wiley   +1 more source