Results 51 to 60 of about 18,928 (258)

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro   +72 more
wiley   +1 more source

Further focus on the study of freezing of gait

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
DOI: 10.3969/j.issn.1672-6731.2017.02 ...
Xian-wen CHEN
doaj  

Characteristic gait disorders in neurological diseases

Reports of Vinnytsia National Medical University
Annotation. Gait is a complex motor process that occurs due to the precise interaction of the central and peripheral nervous systems. Gait disorders are often an early symptom of neurological diseases, such as Parkinson’s disease, multiple sclerosis, polyneuropathies, and myasthenia gravis, and can serve as an important diagnostic criterion.
A. S. Nazarenko, O. O. Gordiichuk
openaire   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Effects of Four-week Progressive Multitask Training on Balance, Gait and Activities of Daily Living Performance in Older Adults: An Experimental Study [PDF]

Journal of Clinical and Diagnostic Research
Introduction: The aging population often experiences increased disability, primarily due to insufficient physical activity, which significantly impacts their ability to perform Activities of Daily Living (ADLs).
Pranali Chougule, Saurabh Kumar, Shweta Sharma, Priyanka Rishi   +3 more
doaj   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Establishing Operational Descriptive Definitions for Neurologic Abnormalities Identified During Gaiting in Dogs

Animals
Accurate identification of gait abnormalities is fundamental to clinical evaluation in both veterinary medicine and translational research. Commonly used descriptors such as ataxia, paresis, hypermetria, and lameness are frequently applied as single-word
Rodney S. Bagley
doaj   +1 more source

Crouch Gait in Dravet Syndrome

Pediatric Neurology Briefs, 2016
Investigators from Necker Enfants Malades Hospital, Sorbonne Paris Cite University, Raymond Poincare University, and Paris Descartes University studied motor neuron function in children with Dravet syndrome (DS).
Laura Black, Deborah Gaebler-Spira
doaj   +1 more source

Effects of Dynamic Suit Orthoses on the Spatio-Temporal Gait Parameters in Children with Cerebral Palsy: A Systematic Review

Children, 2021
Dynamic suit orthoses (DSO) are currently used as a complementary treatment method in children with Cerebral Palsy (cwCP). The aim of this review was to assess the effects of interventions with DSO on the altered spatio-temporal gait parameters (STGPs ...
Natalia Belizón-Bravo, Rita Pilar Romero-Galisteo, Fatima Cano-Bravo, Gloria Gonzalez-Medina, Elena Pinero-Pinto, Carlos Luque-Moreno   +5 more
doaj   +1 more source

Video Analysis of Human Gait and Posture to Determine Neurological Disorders

EURASIP Journal on Image and Video Processing, 2008
Abstract This paper investigates the application of digital image processing techniques to the detection of neurological disorder. Visual information extracted from the postures and movements of a human gait cycle can be used by an experienced neurologist to determine the mental health of the person. However, the current visual assessment of diagnosing
Howard Lee, Ling Guan, Ivan Lee 0001
openaire   +3 more sources