Results 161 to 170 of about 1,485,041 (265)

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

Vascular Disease, Non‐Steroidal Anti‐Inflammatory Drugs and Risk of Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives A history of vascular disease has been shown to be associated with an increased risk of Parkinson's disease, but this may be due to reverse causation. In addition, non‐steroidal anti‐inflammatory drugs are thought to reduce Parkinson's disease risk, but evidence is inconsistent and confounding by prior vascular disease is possible ...
Clare Wotton, Carol Hermon, Sarah Floud, Gillian Reeves, Isobel Barnes   +4 more
wiley   +1 more source

Distance to Care, Regional Context, and Survival in Early-Onset Colorectal Cancer. [PDF]

J Surg Oncol
Myers S, Davis ES, Ng SC, Sachs T, Davids JS, Kenzik KM.   +5 more
europepmc   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Relationships of CSF biomarkers to cortical atrophy in early-onset Alzheimer's disease. [PDF]

Alzheimers Dement
Touroutoglou A, Katsumi Y, Hensel J, Schindler SE, Ibanez L, Brickhouse M, Eloyan A, Eckbo R, Zaitsev A, La Joie R, Thangarajah M, Taurone A, Vemuri P, Jack CR, Hammers DB, Foroud T, Aisen P, Beckett L, Koeppe R, Kukull WA, Toga A, Atri A, Clark D, Day GS, Duara R, Graff-Radford NR, Grant IM, Honig LS, Johnson ECB, Jones DT, Masdeu JC, Mendez MF, Musiek E, Onyike CU, Riddle M, Rogalski E, Salloway S, Sha S, Turner RS, Wingo TS, Wolk DA, Womack K, Carrillo MC, Rabinovici GD, Apostolova LG, Dage JL, Dickerson BC, Eldaief MC, LEADS Consortium.   +48 more
europepmc   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Survival Outcomes in Early Onset Appendiceal Adenocarcinoma (EOAA). [PDF]

Ann Surg Oncol
Gujarathi R, Belmont E, Rodman C, Bansal VV, Setia N, Alpert L, Hart J, Möller MG, Eng OS, Lee G, Chin J, Amin MA, Polite BN, Liao CY, Turaga KK, Shergill A.   +15 more
europepmc   +1 more source

Stage‐Dependent β‐Synuclein Links MRI and Cognitive Decline in Alzheimer's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Synaptic degeneration drives cognitive decline in Alzheimer's disease (AD), but synaptic biomarkers are scarce. Brain‐enriched β‐synuclein emerged as a synaptic damage marker. We investigated its diagnostic, prognostic, and structural correlates across the AD continuum.
Ulaş Ay, Merve Alaylioglu, Erdi Sahin, Sanem Sultan Yoruk Oner, Gulce Iskan, Gulce Cosku Yilmaz Cakan, Gozde Kizilates‐Evin, Emre Hari, Elif Kurt, Erdinc Dursun, Basar Bilgic, Hasmet Hanagasi, Hakan Gurvit, Tamer Demiralp, Duygu Gezen‐Ak, Bedia Samanci   +15 more
wiley   +1 more source

Early-Onset Radiation-Induced Angiosarcoma of the Breast: A Case Report and Literature Review. [PDF]

Eur J Breast Health
Algahtani S, Ali K, Azam F, Dohal A, Alazhri J.   +4 more
europepmc   +1 more source