Results 181 to 190 of about 39,513 (283)

An Australian standard of care for Niemann–Pick disease type C

Internal Medicine Journal, Volume 56, Issue 5, Page 832-848, May 2026.
Abstract Background Niemann–Pick disease type C (NP‐C) is the fifth most prevalent lysosomal disorder in Australia. Diagnostic delay is common, impacted by disease heterogeneity, limited awareness within clinical gateway services and exclusion from state‐based newborn screening programmes.
Michel Tchan, Nicholas Smith, Heidi Peters, Ellie Van Velsen, Catherine Marraffa, Carolyn Ellaway, Katrina Cruz, Shekeeb S. Mohammad, Maina Kava, Joy Yaplito‐Lee, Shanti Balasubramaniam, Yusof Rahman, Brendon Boot, Ashley Bush, Felicity Munro, Leniza Hamoy, Ya Hui Hung, Philippa Johnston, Deanna Carpino, Molly Williams, Sharmila Kiss, Rebecca Quin, Ingrid Sutherland, Mark Walterfang   +23 more
wiley   +1 more source

H/M-ratio in spasticity before and after therapy with vibration impulses [PDF]

, 1988
Krause, Klaus-Henning, Kummer, R. von, Morche, K.   +2 more
core  

Sialidosis type I: How to alleviate disabling myoclonic seizures?-A multicenter analysis of eight cases and review of the literature. [PDF]

Epilepsia Open
Gburek-Augustat J, Lee IC, Rubino M, Topçu V, Chavez-Castillo M, Tu SC, Shinawi M, Alfradique-Dunham I, Valtcheva M, Adarmes-Gómez A, Macias-Garcia D, Laura Muñoz-Delgado L, Jesús S, Mir P, Merkenschlager A, Coppola A.   +15 more
europepmc   +1 more source

Neurological Complications After Pediatric Liver and Kidney Transplantation: A Comprehensive Review of Acute Symptomatic Seizures

Pediatric Transplantation, Volume 30, Issue 5, May 2026.
ABSTRACT Acute symptomatic seizures (ASS) represent one of the most frequent and clinically significant neurological complications following pediatric liver and kidney transplantation. Despite their clinical relevance, available evidence remains fragmented; pediatric‐specific data are limited, and no standardized diagnostic or management framework has ...
Semash Konstantin, Dzhanbekov Timur, Nasirov Mansur, Umarov Bakhtiyorjon, Qambarov Navruz, Khamdamov Bakhtiyor   +5 more
wiley   +1 more source

Symptomatic palatal myoclonus as a rare manifestation of neuro-behcet́s disease: A case report. [PDF]

Clin Neurophysiol Pract
Hormaza-Jaramillo A, Quintana-Peña V, Pachajoa H, Candelo E, Benavides-Ibarra SA, Orozco JL.   +5 more
europepmc   +1 more source

One‐Step and Universal Strategy for the Synthesis of Hypermodified Uracil Phosphoramidites acp3U and cmnm5U

Chemistry – A European Journal, Volume 32, Issue 16, 25 April 2026.
One‐step, highly efficient, and scalable synthesis of acp3U phosphoramidite is described, as well as a new alternative synthesis of cmnm5U phosphoramidite from a highly versatile intermediate. Latter could be scaled‐up, split, and aliquots turned simultaneously into cmnm5U, nm5U, and mnm5U.
Ewa Mejdr, Lena Heinickel, Thomas Carell, Ivana Mejdr   +3 more
wiley   +1 more source

Movement Disorders in MOGAD: A Systematic Review. [PDF]

Medicina (Kaunas)
Kalampokini S, Frontistis A, Pilavas A, Keramidiotis I, Arnaoutoglou M, Kimiskidis VK, Koutsouraki E.   +6 more
europepmc   +1 more source

Opsoclonus‐Myoclonus‐Ataxia Syndrome Associated with Coexisting Anti‐N‐Methyl‐D‐Aspartate Receptor and Glial Fibrillary Acidic Protein Antibodies

Movement Disorders Clinical Practice, Volume 13, Issue 5, Page 1313-1317, May 2026.
Eriko Igami, Yutaka Oji, Akihiro Yamaguchi, Shin‐ichi Ueno, Yuji Tomizawa, Taiji Tsunemi, Taku Hatano, Nobutaka Hattori   +7 more
wiley   +1 more source

Adult-Onset Myoclonus: Comparisons and Contrasts in the Inpatient and Outpatient Settings. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Hamed M, Oh K, Zarandi D, Oluleye M, Zaher A, Elsaygh J, Rizly S, Ma X, Ooi HY, Sarva H, Salgado M, Victor D.   +11 more
europepmc   +1 more source

Palatal Myoclonus [PDF]

Proceedings of the Royal Society of Medicine, 1969
openaire   +2 more sources