Results 91 to 100 of about 5,515,723 (295)

Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner   +25 more
wiley   +1 more source

Fas/Apo1 mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis.

, 1997
Inherited mutations of the Fas/Apo1/CD95 gene, a cell-surface receptor involved in cell death signaling and in the control of self-reactivity, characterize the recently identified autoimmune lymphoproliferative syndromes. A patient with type 2 autoimmune
NISINI R, VAJRO P, ALMERIGHI C, IANNI A, COSTANZO A, NATOLI G, IORIO, RAFFAELE, LEVRERO M. FASAPO MUTATIONS AND AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME IN A. PATIENT WITH TYPE AUTOIMMUNE H.E.P.A.T.I.T.I.S. GASTROENTEROLOGY, VEGNENTE A, BALSANO C, ACCAPEZZATO D, PENSATI L   +11 more
core   +1 more source

Neurologic Manifestations of Long COVID Affect Adult Females More Severely Than Males

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize differences in neurologic manifestations of postacute sequelae of SARS‐CoV‐2 infection (Neuro‐PASC) between females and males. Methods Cross‐sectional study of the first consecutive 261 posthospitalization Neuro‐PASC (PNP) and 2068 nonhospitalized Neuro‐PASC (NNP) patients evaluated at the Neuro‐COVID clinic between ...
Hannah Kopinsky, Melissa Lopez, Janet Miller, Millenia Jimenez, Eric M. Liotta, Igor J. Koralnik   +5 more
wiley   +1 more source

FSP1 is a predictive biomarker of osteosarcoma cells’ susceptibility to ferroptotic cell death and a potential therapeutic target

Cell Death Discovery
Human osteosarcoma (OS) is a relatively rare malignancy preferentially affecting long body bones which prognosis is often poor also due to the lack of effective therapies. Clinical management of this cancer basically relies on surgical removal of primary
Elzbieta Panczyszyn, Valentina Saverio, Romina Monzani, Mara Gagliardi, Jelena Petrovic, Jasmina Stojkovska, Licio Collavin, Marco Corazzari   +7 more
doaj   +1 more source

Quantitative MRI Uncovers Subtle Cortical Damage in Myelin Oligodendrocyte Glycoprotein Antibody‐Associated Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether myelin‐sensitive quantitative MRI reveals microstructural abnormalities in normal‐appearing cortex (NACtx) in myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), indicating that conventional MRI underestimates remission residual cortical injury.
Valentina Camera, Agnese Tamanti, Silvia Messina, Nicola Dall'Osto, Teresa Maltempo, Stefano Ziccardi, Matteo Foschi, Maria Grazia Piscaglia, Diana Ferraro, Francesco Crescenzo, Francesca Rossi, Albulena Bajrami, Sabrina Marangoni, Damiano Marastoni, Francesca Benedetta Pizzini, Maria Isabel Leite, Roberta Magliozzi, Patrick Waters, Massimiliano Calabrese, Jacqueline Palace, Ruth Geraldes   +20 more
wiley   +1 more source

Parmacological aspect of autoimmune diseases

, 2023
This thesis deals with the available treatments for autoimmune diseases and presents the most recent developments in this field. It discussed are the challenges presented to clinicians when choosing the optimal treatment for the individual patient ...
Carmon, Avia
core  

Region Specific miRNA–mRNA Networks in Gray and White Matter Lesions of Progressive Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Multiple sclerosis (MS) is a neurodegenerative demyelinating disease of the central nervous system. This study aimed to identify micro‐RNA (miRNA)–mRNA regulatory networks underlying region‐specific molecular mechanisms in white matter and gray matter lesions in progressive MS.
Adya Sapra, Nagendra K. Rai, Timothy D. Niepokny, Haley Courtney, Ajai Tripathi, Ranjan Dutta   +5 more
wiley   +1 more source

Autoimmune Diseases in Humans, e.g. Autoimmune Rheumatic Diseases

Intervirology, 1993
In spite of increasing evidence that viruses and especially retroviruses could act as etiologic factors in autoimmune and especially autoimmune rheumatic diseases, clear-cut evidence for an involvement of these agents is still missing. Findings, which, for example, indirectly support the hypothesis that retroviruses might play a part, are the ...
J R, Kalden, M, Herrmann
openaire   +2 more sources

Functional Shifts in Gut Microbiota and Associated Metabolites Suggest Gut–Brain Axis Dysregulation in Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS)

Microorganisms
Background: Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections (PANDAS) are characterized by neuropsychiatric symptoms linked to immune dysregulation.
Shabana M. Shaik, Gabriele Schiro, Daniel Laubitz, Juliette C. Madan, Connor P. Kelley, Michael Daines, Sydney A. Rice, Fayez K. Ghishan, Pawel R. Kiela   +8 more
doaj   +1 more source

“Low‐Positive” MOG‐IgG Cases Among Adults With a First Event Suggestive of Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the prevalence and clinical characteristics of patients with “low‐positive” (LP) MOG‐IgG (titres 1:160–1:320) among adults with a first demyelinating event (FDE) suggestive of multiple sclerosis (MS). Methods From the Barcelona CIS inception cohort, we included adult patients with serum collected ≤ 6 months from the FDE.
Javier Villacieros‐Álvarez, Carmen Espejo, Georgina Arrambide, Mireia Castillo, Marta Rodriguez, Helena Ariño, Iker Elosua, Carmen Tur, Angela Vidal‐Jordana, Andreu Vilaseca, Joaquín Castilló, Ingrid Galán, Luciana Midaglia, Carlos Nos, Breogan Rodríguez‐Acevedo, Ana Zabalza, Luca Bollo, Agustín Pappolla, René Carvajal, Neus Mongay‐Ochoa, Jordi Rio, Jaume Sastre‐Garriga, Manuel Comabella, Gesualdina Busiello, Sofia Sceppacuercia, Àlex Rovira, Xavier Montalban, Mar Tintoré, Cristina Auger, Álvaro Cobo‐Calvo   +29 more
wiley   +1 more source