Results 181 to 190 of about 349,286 (299)

Structure–Function Decoupling of the Sensorimotor and Default Mode Networks in Black Americans With MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Multiple sclerosis (MS) exhibits racially disparate rates of disease progression. Black people with MS (B‐PwMS) experience a more severe disease course than non‐Hispanic White people with MS (NHW‐PwMS). Here we investigated structural and functional connectivity as well as structure–function decoupling in the ...
Emilio Cipriano, Giacomo Boffa, Maria Petracca, Marta Ponzano, Nicole Graziano, Claire Wigley, Claire Riley, Jonathan Howard, Pietro Bontempi, Sylvia Klineova, Fred Lublin, Matilde Inglese   +11 more
wiley   +1 more source

Successful term pregnancy after renal transplant in end-stage renal disease with complement factor H-related mutation: A case report. [PDF]

World J Transplant
Balwani MR, Pasari A, Kashiv P, Shembekar C, Shembekar M, Dubey S, Jeyachandran V, Malde S, Gupta S, Pawar T, Tolani P, Kurundwadkar M, Gurjar P, Sejpal K, Bawankule C, Kute VB.   +15 more
europepmc   +1 more source

Complement factor H Y402H polymorphism results in diminishing CD4⁺ T cells and increasing C-reactive protein in plasma. [PDF]

Sci Rep, 2023
Nielsen MK, Subhi Y, Falk M, Singh A, Sørensen TL, Nissen MH, Faber C.   +6 more
europepmc   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Immunological Characteristics of Chinese Adult Patients with Anti-Complement Factor H Autoantibodies-Associated Complement-Mediated Thrombotic Microangiopathy. [PDF]

Kidney Dis (Basel)
Yang S, Sun X, Tan M, Tan Y, Zhao M.
europepmc   +1 more source

Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism. [PDF]

Nat Commun, 2023
Iglesias MJ, Sanchez-Rivera L, Ibrahim-Kosta M, Naudin C, Munsch G, Goumidi L, Farm M, Smith PM, Thibord F, Kral-Pointner JB, Hong MG, Suchon P, Germain M, Schrottmaier W, Dusart P, Boland A, Kotol D, Edfors F, Koprulu M, Pietzner M, Langenberg C, Damrauer SM, Johnson AD, Klarin DM, Smith NL, Smadja DM, Holmström M, Magnusson M, Silveira A, Uhlén M, Renné T, Martinez-Perez A, Emmerich J, Deleuze JF, Antovic J, Soria Fernandez JM, Assinger A, Schwenk JM, Souto Andres JC, Morange PE, Butler LM, Trégouët DA, Odeberg J.   +42 more
europepmc   +1 more source

Baseline Regional Cholinergic Denervation Predicts Cognitive Trajectories in Moderate Parkinson Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown, Giulia Carli, Prabesh Kanel, Stiven Roytman, Jaimie Barr, Nicolaas I. Bohnen, Roger L. Albin   +6 more
wiley   +1 more source

Familial relapsing haemolytic uraemic syndrome and complement factor H deficiency

, 1999
Background. In a recent study of three families we have found that inherited haemolytic uraemic syndrome (HUS) maps to a region of chromosome 1q containing the gene for complement factor H.
Howie AJ, Taylor CM, Donne RL, Goodship JA, Goodship THJ, Thompson RA, Kumararatne DS, Warwicker P   +7 more
core  

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Disease Progression in Age-Related Macular Degeneration Patients Carrying Rare Variants in the Complement Factor H or Complement Factor I Genes. [PDF]

Invest Ophthalmol Vis Sci
Cinque F, de Breuk A, Mhmud H, De Jong S, Vermeulen J, Liefers B, den Hollander AI, Thee E, Colijn JM, Heesterbeek TJ, Klaver CC, Hoyng CB, Lechanteur YTE.   +12 more
europepmc   +1 more source