Results 261 to 270 of about 2,286,481 (339)

NF1 with Multiple Cardiac Structural Abnormalities Leading to Cerebral Infarction. [PDF]

Diagnostics (Basel)
Ye J, Jiang Y, Wang H, Wang D.
europepmc   +1 more source

Investigation of Abnormal Heat Transfer and Flow in a VHTR Reactor Core

, 2015
Masahiro Kawaji, Francisco I. Valentín, Narbeh Artoun, Sanjoy Banerjee, M. S. Sohal, Richard R. Schultz, Donald M. McEligot   +6 more
openalex   +2 more sources

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

Autosomal Dominant <i>FTH1</i> Variant Causing Pontocerebellar Hypoplasia and Late-Onset Neuroferritinopathy: A Case Report. [PDF]

Neurol Genet
Hebbink JA, Niermeijer JF, Vroegindeweij E, de Vries BBA, Pegge S, Kamsteeg EJ, Willemsen MAAP.   +6 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

Clinician and radiologist chest radiography interpretation variability in a high-TB-burden setting. [PDF]

IJTLD Open
Navuluri N, Kipchirchir C, Lagat D, Birgen E, Kitur S, Thielman N, Que LG, Wools-Kaloustian K, Kussin PS, Tailor TD.   +9 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

Multiple or Single Endocrine Abnormalities Associated With Immune Checkpoint Inhibitors.

J Clin Endocrinol Metab
Kamitani F, Nishioka Y, Nakajima H, Kurematsu Y, Okada S, Myojin T, Noda T, Imamura T, Takahashi Y.   +8 more
europepmc   +1 more source

Quantitative Assessment of Visual Function in Japanese Patients With Lecithin-Cholesterol Acyltransferase Gene Abnormalities: A Case-Control Study. [PDF]

Cureus
Ono T, Iwasaki T, Sakisaka T, Mori Y, Nejima R, Miyata K.   +5 more
europepmc   +1 more source