Results 221 to 230 of about 91,199 (294)

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

Primordial black holes and their gravitational-wave signatures. [PDF]

Living Rev Relativ
Bagui E, Clesse S, De Luca V, Ezquiaga JM, Franciolini G, García-Bellido J, Joana C, Kumar Jain R, Kuroyanagi S, Musco I, Papanikolaou T, Raccanelli A, Renaux-Petel S, Riotto A, Ruiz Morales E, Scalisi M, Sergijenko O, Ünal C, Vennin V, Wands D, LISA Cosmology Working Group.   +20 more
europepmc   +1 more source

Clinical Spectrum and Outcomes of SOX1 Antibody‐Associated Paraneoplastic Neurological Syndromes: A Chinese Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background SOX1 antibody‐positive paraneoplastic neurological syndromes (PNS) exhibit significant population‐specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert‐Eaton myasthenic syndrome (65%–80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically ...
Jin‐Long Ye, Zu‐Ying Kuang, Bo Li, Meng‐Qiu Pan, Li‐Hua Zhou, Yang‐Yang Dai, Si‐Fen Xie, Xian‐Guang Lin, Ye‐Peng Hu, Li‐Hong Jiang, Zhan‐Hang Wang, Wei‐Jing Zhang   +11 more
wiley   +1 more source

A giant disk galaxy two billion years after the Big Bang. [PDF]

Nat Astron
Wang W, Cantalupo S, Pensabene A, Galbiati M, Travascio A, Steidel CC, Maseda MV, Pezzulli G, de Beer S, Fossati M, Fumagalli M, Gallego SG, Lazeyras T, Mackenzie R, Matthee J, Nanayakkara T, Quadri G.   +16 more
europepmc   +1 more source

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
wiley   +1 more source

Black holes regulate cool gas accretion in massive galaxies. [PDF]

Nature
Wang T, Xu K, Wu Y, Shi Y, Elbaz D, Ho LC, Zhang ZY, Gu Q, Wang Y, Shu C, Yuan F, Xia X, Wang K.   +12 more
europepmc   +1 more source

CX3CL1 in Early Detection of Alzheimer's Disease: Plasma Dynamics Across Age and Disease Stages

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Backgrounds Alzheimer's disease (AD) is characterized by amyloid‐beta plaques, tau tangles, and neuroinflammation. C‐X3‐C motif chemokine ligand 1 (CX3CL1, also known as fractalkine), a neuroimmune chemokine implicated in AD pathogenesis, shows inconsistent alterations in plasma/serum across studies.
Ling Wang, Yujie Liu, Fei Li, Xuelin Li, Lanlan Li, Jie Zhang, Yali Xu   +6 more
wiley   +1 more source

The faintest, extremely variable X-ray tidal disruption event from a supermassive black hole binary? [PDF]

Innovation (Camb)
Huang M, Xue Y, Li S, Liu F, Zhu S, Chen JH, Shen RF, Wang Y, Yang Y, Jiang N, Bauer FE, Vignali C, Zou F, Wang J, Filippenko AV, Luo B, Qin C, Quirola-Vásquez J, Wang JX, Fan L, Sun M, Wu Q, Ni Q, Brink TG, Wang T, Zheng W, Shu X, Zheng X, Lin X, Kong X, Wang Y, Luo Y, Lin Z.   +32 more
europepmc   +1 more source

A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari, Arens Taga, Sonya Ulrike Steele, Ahmet Hoke   +3 more
wiley   +1 more source

Estimation of mass and radii for charged compact objects using a modified Chaplygin equation of state in the Buchdahl-I metric. [PDF]

PLoS One
Zahra A, Mardan SA, Saleem S, Bilal Riaz M, Kozubek T.   +4 more
europepmc   +1 more source