Results 61 to 70 of about 297,007 (186)

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long‐Read Sequencing and RNA Analysis

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
Long‐read sequencing phased multiple VPS41 variants and established the biallelic configuration in a patient with autosomal recessive spinocerebellar ataxia 29. Transcript analysis revealed distinct allele‐specific splicing abnormalities, while the patient also showed clinical features beyond the typical phenotype.
Natsuki Nakamura, Yosuke Nishio, Hiromi Nyuzuki, Ai Fukushima, Masaki Miura, Yu Kobayashi, Risako Ishioka, Kotaro Tsukada, Yasuyoshi Oka, Koyo Tsujikawa, Hironobu Morinaga, Mie Inaba, Jun Tohyama, Yuka Nakazawa, Takeshi Ikeuchi, Takeshi Ono, Shinji Saitoh, Tomoo Ogi   +17 more
wiley   +1 more source

Foot posture is associated with plantar pressure during gait: A comparison of normal, planus and cavus feet

, 2018
Background Variations in foot posture, such as pes planus (low medial longitudinal arch) or pes cavus (high medial longitudinal arch) are associated with some lower limb injuries.
Menz, HB, Karl B. Landorf, Landorf, KB, Landorf, K. B., Buldt, Andrew K, Saeed Forghany, Murley, G. S., Murley, GS, Buldt, AK, Levinger, Pazit, Buldt, A. K., Levinger, P, Hylton B. Menz, George S. Murley, Forghany, S, Forghany, Saeed, Pazit Levinger, Andrew K. Buldt, Menz, H. B., Levinger, P.   +19 more
core   +1 more source

Comorbidity Patterns in Static Foot Deformities: A Comparative Approach

Journal of Clinical Rheumatology and Immunology
Background: Flatfoot (FF) and cavus foot (CF) are common static foot deformities. While often studied from a mechanical perspective, their association with systemic comorbidities remains underexplored.
Hind Bakadir, Soukaina Zaher, Ahlam Ajerouassi, Kawtar Nassar, Wafae Rachidi, Saadia Janani   +5 more
doaj   +1 more source

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

Are in-shoe pressure characteristics in symptomatic idiopathic pes cavus related to the location of foot pain?

, 2008
People who have extremely high arched feet may be subject to substantial levels of foot pain, despite the lack of obvious pathology. This study sought to investigate the effect of pes cavus on pain intensity and location and on the magnitude and ...
Crosbie, Jack (R17347), Burns, Joshua (R10995)   +1 more
core   +1 more source

Static analysis of plantar pressures and kinetic parameters in pes cavus versus normal feet: a case–control study

Frontiers in Physics
BackgroundAt least 10% of the population has cavus feet. This type of foot, characterized by a high medial arch, is usually accompanied by muscle imbalances, calluses, and pain in the hindfoot, lateral column, and forefoot.
Lucía Martínez-Salvador, Helena Silva-Migueis, Ricardo Becerro-de-Bengoa-Vallejo, Marta Losa-Iglesias, Javier Bayod-López, Israel Casado-Hernández, Juan Gómez-Salgado, Juan Gómez-Salgado, Daniel López-López   +8 more
doaj   +1 more source

Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder

Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan, Haya S. AlFaris, Lindsey Vogt, Michele Eid, Anika Menetrey, Sayoni Roy Chowdhury, Dawn Codeiro, Pradeep Krishnan, Liali Aljouda, Emily W.Y. Tam, Carolina Gorodetsky   +10 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

Utilization of Neural Network in the Diagnosis of Pes Planus and Pes Cavus with a Smartphone Camera

Foot & Ankle Orthopaedics
Category: Midfoot/Forefoot Introduction/Purpose: Pes Planus (flatfoot) and Pes Cavus (high arch) are common foot deformities requiring clinical assessment and radiographic imaging for diagnosis and subsequent management.
Samir Ghandour MD, Anton Lebedev BS, Wei Shao Tung BS, Konstantin Semianov BS, Artem Semyanov MS, Daniel Guss MD, MBA, Gregory R. Waryasz MD, John Y. Kwon MD, Christopher W. DiGiovanni MD, Soheil Ashkani-Esfahani MD, Lorena Bejarano-Pineda MD   +10 more
doaj   +1 more source

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

Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1543-1557, August 2026.
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