Results 271 to 280 of about 955,216 (365)

Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease Onset in Pregnancy: A Case Report. [PDF]

Cureus
Infante Valenzuela A, Saldaña Velázquez HA, Martínez Torres AS, García Garza DA, Villarreal Ondarza IA, Flores Alfaro F, Saldivar Dávila S, Chávez Luévanos BE, Góngora-Rivera F.   +8 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Cross-Reactivity of Antiphospholipid Antibodies with Gut Commensal Proteins in Antiphospholipid Syndrome. [PDF]

TH Open
van Mourik DJM, Balvers M, Jansen VLBI, de Jonge PA, Coppens M, Nieuwdorp M, Middeldorp S, Eikenboom JCJ, Voorberg J, van Mens TE.   +9 more
europepmc   +1 more source

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

Molecular and Functional Alterations of P-Glycoprotein in a Genetic Model of Epilepsy: Insights from the Wistar Audiogenic Rat. [PDF]

Int J Mol Sci
Placido RV, Rodrigues RF, Costa LH, Kawano T, Aquino MK, Martinez GB, Hummel MTR, de Lima MET, da Silva RMP, Garcia-Cairasco N, Ruginsk SG, Pereira MGAG, Boralli VB.   +12 more
europepmc   +1 more source

Proinflammatory Epstein–Barr Virus Antibody Functions Track with Disease Activity in Multiple Sclerosis

Annals of Neurology, EarlyView.
Objective Epstein–Barr virus (EBV) has been implicated in the pathogenesis of multiple sclerosis (MS). Elevated immunoglobulin G (IgG) titers against EBV nuclear antigen 1 (EBNA1) represent the most consistent serological marker of MS risk, with levels remaining persistently elevated following disease onset.
Malina Behrens, Paula Terroba‐Navajas, Eline A.J. Willemse, Sabine Schädelin, Manuel Comabella, Christian Münz, Gordan Lauc, Yannic Bartsch, Jens Kuhle, Jan D. Lünemann   +9 more
wiley   +1 more source

Confirming ERVEBO Vaccination to Support Ebola Virus Surveillance. [PDF]

Emerg Infect Dis
Karaaslan E, Whitesell A, Malenfant J, Carson WC, Townsend M, Jolie KK, Koivogui E, Grovogui SM, Diallo B, Gbamou N, Corvil S, Boumbaly S, Martel L, Sinclair JR, Camara A, Shoemaker T, Choi MJ, Montgomery JM, Spiropoulou CF, Bergeron É.   +19 more
europepmc   +1 more source

Neurotransmitter‐Defined Degeneration Patterns in Sporadic and C9orf72‐Associated Amyotrophic Lateral Sclerosis: Predilection to GABAergic, Serotonergic, Opioid, Glutamatergic, Endocannabinoid, and Microglial Systems—Implications for Therapy Development

Annals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) has a markedly distinctive clinical and neuroradiological signature, with the preferential involvement of specific brain networks and the apparent sparing of others. The molecular underpinnings of the strikingly selective anatomical vulnerability have not been fully elucidated to date despite the potential ...
Marlene Tahedl, We Fong Siah, Jasmin Lope, Jennifer C. Hengeveld, Mark A. Doherty, Russell L. McLaughlin, Orla Hardiman, Ee Ling Tan, Alison Toomey, Jana Kleinerova, Peter Bede   +10 more
wiley   +1 more source

Polyfunctional antibody signature defines protection in Andes hantavirus survival. [PDF]

Front Immunol
Bravo F, Salinas TP, Kossack C, Gonzalez JT, Giacaman I, Quevedo C, Fuller S, Saavedra F, Aguilera-Pérez C, Aguilera F, Riquelme R, Rioseco ML, Calvo M, Alvarez RA, Pascale JM, Armién B, Navarrete M, Garrido JL, Barria MI.   +18 more
europepmc   +1 more source