Results 61 to 70 of about 2,725,444 (278)

Diagnostic histochemistry and clinical-pathological testings as molecular pathways to pathogenesis and treatment of the ageing neuromuscular system: a personal view [PDF]

, 2015
Ageing of the neuromuscular system in elderhood ingravescently contributes to slowness, weakness, falling and death, often accompanied by numbness and pain.
Engel, W. King
core   +1 more source

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof   +20 more
wiley   +1 more source

Virtual Steps: The Experience of Walking for a Lifelong Wheelchair User in Virtual Reality [PDF]

In 2024 IEEE Conference Virtual Reality and 3D User Interfaces (VR) (pp. 168-178). IEEE
Many people often take walking for granted, but for individuals with mobility disabilities, this seemingly simple act can feel out of reach. This reality can foster a sense of disconnect from the world since walking is a fundamental way in which people interact with each other and the environment.
arxiv   +1 more source

The Relationship between Osteogenesis Imperfecta and Spinal Muscular Atrophy [PDF]

, 2011
ObjectiveA 4-month-old female with osteogenesis imperfecta (OI) type II was admitted in PICU of our center due to severe respiratory distress and fever with a diagnosis of severe pneumonia, and mechanical ventilation was initiated.
Fahimzad, Alireza, Karimi, Abdollah, Soltani, Babak, Talebian, Mahshid   +3 more
core   +2 more sources

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

بروز نادر خانوادگی وردينگ هافمن [PDF]

, 2010
مقدمه : بيماری وردينگ هافمن يک بيماری دژنراتيو حرکتی است که از زمان جنينی بيمار را درگير نموده و در دوران شيرخوارگی و کودکی پيشرفت می نمايد. معمولاً مرگ تا سن 2 سالگی و به علت نارسايی تنفسی رخ می دهد.
خالصی, نسرین, رضاخانی, آتوسا, کشاورز, کامبیز   +2 more
core  

Longitudinal Metabolomics in Amyotrophic Lateral Sclerosis Implicates Impaired Lipid Metabolism

Annals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by altered metabolome and energy homeostasis, manifesting with body mass index changes and hypermetabolism—both prognostic of disease progression and survival.
Kai Guo, Masha G. Savelieff, Dae‐Gyu Jang, Samuel J. Teener, Lili Zhao, Junguk Hur, Stephen A. Goutman, Eva L. Feldman   +7 more
wiley   +1 more source

Control of the Extension-Flexion Cycle of Human Knees During Bicycle Riding by a Synergy of Solitary Muscular Excitations and Contractions [PDF]

Nonlinear Dynamics, (2016), 1-11, 2016
A Hill-type model is proposed for the extension-flexion cycle of human knees during bicycle riding. The extension-flexion cycle is controlled by a synergy of muscular excitations and contractions of the knee musculature. Muscular action potentials are modeled by Sine-Gordon kinks, while titin-influenced actomyosin contractionsare modeled by Korteweg-de
arxiv   +1 more source

Study of survival of motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) gene deletions in SMA patients [PDF]

, 2005
In view of the paucity of deletion studies of survival of motor neuron (SMN) and neuronal apoptosis inhibitor protein (NAIP) genes in Indian SMA patients, this study has been undertaken to determine the status of SMN1, SMN2 and NAIP gene deletions in ...
Kalita, J., Kesari, A., Mishra, V. N., Misra, U. K., Mittal, B., Patil, S. J., Phadke, S. R., Pradhan, S.   +7 more
core   +1 more source

Paracetamol and its metabolites in children and adults with spinal muscular atrophy – a population pharmacokinetic model

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aims The aim of the study was to investigate whether differences in paracetamol pharmacokinetics (PK) between spinal muscular atrophy (SMA) patients and healthy controls (HC) could be attributed to specific clinical covariates. Methods Nonlinear mixed‐effects modelling (NONMEM 7.4) was used to develop a population PK model, explore covariates ...
Qiaolin Zhao, Marie Mostue Naume, Brenda C. M. de Winter, Thomas Krag, Sissel Sundell Haslund‐Krog, Karoline Lolk Revsbech, John Vissing, Helle Holst, Morten Hylander Møller, Tessa Munkeboe Hornsyld, Morten Dunø, Christina Engel Hoei‐Hansen, Alfred Peter Born, Per Bo Jensen, Mette Cathrine Ørngreen   +14 more
wiley   +1 more source