Results 101 to 110 of about 3,936,779 (293)

NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang, Kang‐Yang Jih, Cheng‐Tsung Hsiao, Fu‐Pang Chang, Justus Chunyu Chen, Yi‐Chu Liao, Yih‐Ru Wu, Yi‐Chung Lee   +7 more
wiley   +1 more source

PSEUDOHERMAPHRODITISM, ADIPOSITY, POLYURIA, AND HYPERGLYCAeMIA. AN INFUNDIBULOTUBERIAN SYNDROME [PDF]

, 1938
R. M. Stewart
openalex   +1 more source

Les Zones De Looser Et Le Syndrome De Milkman [PDF]

, 1947
P Wettstein
openalex   +1 more source

Cytokine, Chemokine, and Neurofilament Light Chain Signatures in LGI1 Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the value of cytokine, chemokine, and neurofilament light chain (NfL) concentrations in predicting relapse risk, chronic epilepsy, and functional impairment in LGI1 autoimmune encephalitis (AE). Methods Cytokines/chemokines (IL‐1‐beta, IL‐2, IL‐4, IL‐5, IL‐6, IL‐8/CXCL8, IL‐10, IL‐12p70, IL‐13, IL‐17A, GM‐CSF, TNF ...
Albert Aboseif, Georgios Mangioris, Binxia Yang, Vanessa K. Pazdernik, Jeffrey W. Britton, Divyanshu Dubey, Eoin P. Flanagan, Sarosh R. Irani, Gregory S. Day, Charles L. Howe, A. Sebastian López‐Chiriboga, Andrew McKeon, John R. Mills, Yahel Segal, Michel Toledano, Ivana Vodopivec, Sean J. Pittock, Anastasia Zekeridou   +17 more
wiley   +1 more source

JUVENILE MYELOMONOCYTIC LEUKEMIA WITH TELOMERE SHORTENING: CASE REPORT

EJC Paediatric Oncology, 2023
Anita Frisanco Oliveira, Rafael Balceiro, Neysimelia Costa Villela, Luiz Fernando Lopes   +3 more
doaj   +1 more source

Quantitative Iron Measurements in the Basal Ganglia of NBIA Patients Using QSM: Insights From a Tertiary Center

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurodegeneration with brain iron accumulation (NBIA) comprises rare genetic disorders characterized by predominantly extrapyramidal symptoms and iron deposition in the basal ganglia. Conventional magnetic resonance imaging (MRI) detects qualitative changes but cannot accurately quantify iron accumulation. Quantitative susceptibility
Özge Uygun, Alpay Özcan, Fuat Kaan Aras, Evrim Bozdemir, Sibel Uğur İşeri, Koray Kırımtay, Arzu Karabay, Murat Gültekin, Nihan Hande Akçakaya, Orkhan Mammadov, Gülay Kır, Dilek İnce Günal, Neşe Tuncer, Fatma Betül Özdilek, Banu Özen Barut, Ercan Köse, Hülya Apaydın, Asuman Ali, Sultan Çağırıcı, Pınar Topaloğlu, Alp Dinçer, Zuhal Yapıcı   +21 more
wiley   +1 more source

Polynomial invariants of G-orbit errors of BCH codes and its application

Doklady Belorusskogo gosudarstvennogo universiteta informatiki i radioèlektroniki, 2019
The article addresses the further development of methods of BCH codes norm decoding. The authors propose to use new syndrome invariants - polynomial invariants of automorphism group G of a family of BCH codes.
V. A. Lipnitski, E. V. Sereda
doaj  

Duane's Retraction Syndrome [PDF]

, 1945
A. J. Elliot
openalex   +1 more source

Durability of Response to B‐Cell Maturation Antigen‐Directed mRNA Cell Therapy in Myasthenia Gravis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We report the 12‐month follow‐up outcomes from a Phase 2 clinical trial (NCT04146051) evaluating Descartes‐08, a BCMA‐directed RNA chimeric antigen receptor T‐cell (rCAR‐T) therapy for refractory generalized myasthenia gravis (MG).
Nizar Chahin, Gregory Sahagian, Marc H. Feinberg, C. Andrew Stewart, Christopher M. Jewell, Metin Kurtoglu, Miloš D. Miljković, Tuan Vu, Tahseen Mozaffar, James F. Howard Jr, the MG‐001 Study Group   +10 more
wiley   +1 more source

Agenesis of Frontal Sinuses in Association with Kindler Syndrome: A Rare Case Report Running title: Agenesis of frontal sinuses in Kindler Syndrome

Cumhuriyet Dental Journal, 2020
Kindler syndrome, as a rare subtype of Epidermolysis Bullosa, sets in motion a series of genetic conditions causing minor traumas and blisters on skin and making the skin susceptible to sunburn.
Ali Bagherpour, Shahin Moeını
doaj