Results 91 to 100 of about 24,801 (222)

VRK1‐Related Motor Neuropathy With Upper Motor Neuron Signs and Selective Muscle Involvement

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Introduction Hereditary motor neuropathies (HMN) represent a heterogeneous group of disorders with wide clinical and genetic variability. Despite advances in molecular diagnostics, approximately 50% of cases remain genetically unresolved, particularly those where distinguishing length‐dependent motor neuropathy from motor neuron disorder with ...
Manoella Guerra de Albuquerque Bueno, Diogo Fernandes dos Santos, Alexander M. Rossor, Matilde Laura, Alejandro Horga, Rodrigo Siqueira Soares Frezatti, Eduardo Vaz de Sousa Ferreira, Julian C. Blake, Jasper M. Morrow, Mary M. Reilly, Wilson Marques Júnior, Pedro José Tomaselli   +11 more
wiley   +1 more source

Biallelic SCO2 Variants Presenting as Motor‐Predominant Axonal Neuropathy With Complex IV Deficiency

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background and Aims SCO2 encodes a mitochondrial copper chaperone required for cytochrome c oxidase (COX) assembly and is classically associated with severe multisystem mitochondrial disease. We characterize a motor‐predominant axonal neuropathy presentation associated with biallelic SCO2 variants.
Adriana P. Rebelo, Katie Lutz, Tiffany Grider, Craig M. Zaidman, Michael E. Shy, Stephan Zuchner   +5 more
wiley   +1 more source

Neuropathy With Demyelinating Features in a Patient With Biallelic HARS1 Variants

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background and Aims The HARS1 gene encodes cytoplasmic histidyl‐tRNA synthetase, which catalyzes the ligation of histidine to tRNAHIS in the cytoplasm as an early step in protein biosynthesis and is essential for cell viability. Pathogenic variants in HARS1 have been associated with three phenotypes: autosomal dominant Charcot–Marie–Tooth (CMT)
Christina Del Greco, Allison R. Cale, Karl Haeberlein, Anthony Antonellis, Michael E. Shy, Tiffany Grider   +5 more
wiley   +1 more source

Nonglaucomatous optic neuropathies in Port Harcourt

, 2011
Chinyere Nnenne Pedro-Egbe1, SAH Cookey2, Elizabeth A Awoyesuku3, Nnenne Ani4 1Ophthalmology Unit, 2Department of Surgery, 3College of Health Sciences, University of Port Harcourt, 4Department of Ophthalmology, University of Port Harcourt Teaching ...
Cookey SAH, Awoyesuku EA, Pedro-Egbe CN, Ani N   +3 more
core  

Comparing the Diagnostic Characteristics of Neuropathy Questionnaires in Adults With Obesity

Journal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Aim To compare the diagnostic characteristics of three peripheral neuropathy (PN) patient‐completed questionnaires. Methods We recruited participants with obesity from a previously completed randomized controlled trial. Patient‐completed PN questionnaires included the Michigan Neuropathy Screening Instrument questionnaire (MNSIq), the Diabetic
Nicholas Heaton, Evan L. Reynolds, Fallon Koenig, Lavanya Muthukumar, Merel Huijg, Noor E. Taams, Pieter A. van Doorn, Brian C. Callaghan   +7 more
wiley   +1 more source

Syndromic Mitochondrial Optic Neuropathies

, 2012
In some of the hereditary optic neuropathies, optic nerve dysfunction is typically isolated. In others, various neurologic and systemic abnormalities are regularly observed.IC-E2dii5-other-mitochondrial ...
Nancy J. Newman, MD
core  

Modelling the memory of unmyelinated axons: Integration of a data‐driven approach with physiological memory concept

The Journal of Physiology, Volume 604, Issue 17, Page 7125-7144, 1 September 2026.
Abstract figure legend Simplified and resource‐efficient computational model for predicting activity‐dependent conduction velocity changes in individual spikes within spike trains in unmyelinated axons. Fibre memory: The conduction speed of each action potential is modulated non‐linearly by the axon's prior activity.
Anna Maxion, Jenny Tigerholm, Barbara Namer, Ekaterina Kutafina   +3 more
wiley   +1 more source

Neuropathies Following an Ultrasound-Guided Axillary Brachial Plexus Block

, 2023
Keito Koh, Onishi Tatsuki, Sonoko Sakuraba, Sho Yamazaki, Hajime Yako, Takeshi Omae Department of Anesthesiology and Pain Medicine, Juntendo University Shizuoka Hospital, Izunokuni, JapanCorrespondence: Keito Koh, Department of Anesthesiology and Pain ...
Sakuraba S, Omae T, Koh K, Yako H, Tatsuki O, Yamazaki S   +5 more
core  

Hereditary Mitochondrial Optic Neuropathies

, 2012
Leber\u27s hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA) are the two most frequent mitochondrial hereditary optic neuropathies with monosymptomatic ...
Valerio Carelli, MD, PhD
core  

Enteric neurospheres are not specific to neural crest cultures: implications for neural stem cell therapies. [PDF]

, 2015
Enteric neural stem cells provide hope of curative treatment for enteric neuropathies. Current protocols for their harvesting from humans focus on the generation of 'neurospheres' from cultures of dissociated gut tissue.
Ellen Binder, Kronfli Rania, Binder Ellen, Julie Cooper (709302), Cooper Julie, Thapar Nikhil, Conor McCann, Cananzi Mara, Cananzi, M, Jean-Marie Delalande (709304), Dipa Natarajan (709301), Conor McCann (709305), Cananzi, M. (Mara), Dipa Natarajan, Delalande Jean-Marie, Binder, E, McCann, C.J. (Conor), Nikhil Thapar, Nikhil Thapar (709307), Mara Cananzi (255527), Burns Alan J., Cooper, J.E. (Julie E.), Thapar, N. (Nikhil), Alan J Burns, Delalande, JM, Natarajan, D, Jean-Marie Delalande, Burns, A.J. (Alan), McCann, C, Rania Kronfli (709303), Delalande, J.-M. (Jean-Marie), McCann Conor, Mara Cananzi, Delalande, J-M, Natarajan, D. (Dipa), Julie Cooper, Burns, AJ, Thapar, N, Binder, E. (Ellen), Ellen Binder (709300), Alan J. Burns (709306), Cooper, J, Natarajan Dipa, Kronfli, R, Kronfli, R. (Rania), Rania Kronfli   +45 more
core   +2 more sources