Results 171 to 180 of about 894,625 (303)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Correction: Application of artificial intelligence in diagnosis and management of fetal growth disorders: a comprehensive review. [PDF]

Front Med (Lausanne)
Frontiers Production Office.
europepmc   +1 more source

Genetics in Growth Disorders

, 2002
N ...
S. Forese, S. Mariani, C. Falcinelli, BERNASCONI, Sergio, L. IUGHETTI, S. Bernasconi, M. Ferrari, A. Forabosco, IUGHETTI, Lorenzo, S. Milioli   +9 more
core  

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

Automated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia. [PDF]

Front Endocrinol (Lausanne)
Skaf K, Fardipour M, Schmidt P, Bolmer E, Keller A, Lampe C, Jurgens J, Lindschau M, Palm K, Ruckdeschel S, Javanmardi B, Mohnike K.   +11 more
europepmc   +1 more source

Identifying fetal growth disorders using ultrasound in obese nulliparous women. [PDF]

J Matern Fetal Neonatal Med, 2021
Dude AM, Davis B, Delaney K, Yee LM.
europepmc   +1 more source

Brainstem and Cerebellar Volume Loss and Associated Clinical Features in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel, Timothy P. Siejka, Cassandra Marotta, Josh J. Y. Lee, Kelly Bertram, Terence J. O'Brien, Meng Law, Lucy Vivash, Ian H. Harding   +8 more
wiley   +1 more source

Convergent DNA methylation abnormalities at enhancers and bivalent promoters in human growth disorders. [PDF]

Epigenetics Chromatin
Wheeler MES, Takahashi Y, Lee J, Perez CT, Chen X, Lee Y, Pope ZS, Lu DJ, Seldin M, Marazzi I, Yun H, Weirauch MT, Byun M.   +12 more
europepmc   +1 more source

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

Imaging of pediatric bone and growth disorders: Of diagnostic workhorses and new horizons. [PDF]

Wien Med Wochenschr, 2021
Mehany SN, Patsch JM.
europepmc   +1 more source