Results 111 to 120 of about 153,244 (285)

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

Annals of Clinical and Translational Neurology, EarlyView.
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

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

Diversity of bryophytes in priority areas for conservation in the Atlantic forest of northeast Brazil

Acta Botânica Brasílica, 2015
The northeastern Brazilian Atlantic forest is the region with the greatest diversity of bryophytes in the country. However, knowledge about bryophytes is irregularly distributed among Brazilian regions.
Mércia Patrícia Pereira Silva, Kátia Cavalcanti Pôrto   +1 more
doaj   +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

Maps showing the Atlantic Forest and sampled conservation units. [PDF]

, 2014
Areas in light gray represent the supposed forest cover in 1500 AC (the age of Portuguese Discoveries). Areas in dark grey represent the remaining fragments of the Atlantic Forest.
Juliana Chamorro-Rengifo (614611), Cristiano Lopes-Andrade (451467), Verônica Saraiva Fialho (614610), Karla Suemy Clemente Yotoko (614612)   +3 more
core   +1 more source

Brazilian Cerrado and Conservation Units

Revista de Gestão Social e Ambiental
Objective: The present study aims to demonstrate the importance of the Brazilian cerrado, and its preservation through Conservation Units (UC’S).   Theoretical Framework: The cerrado is home to one of the main components of Brazilian fauna and flora and is considered one of the twenty-five global hotspots.
Lidiane Lopes Arriel Mendonça, Eumar Evangelista de Menezes Júnior   +1 more
openaire   +1 more source

Blood RNA Biomarker Signatures for Early Diagnosis and Prognosis in Ischemic and Hemorrhagic Stroke: The IBIS‐CT1 Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the expression of nine blood RNA biomarkers in a clinical trial based on genes previously identified in an experimental monkey model of stroke for diagnosis feasibility and prognostication. Methods IBIS‐CT1 was a prospective longitudinal study enrolling patients with ischemic stroke (IS) or intracerebral hemorrhage (ICH ...
Salomé Retailleau, Marie Bruguet, Irina Viakhireva‐Dovganyuk, François‐Mathias Merrien, Denis Marechal, Aurore Jourdain, Philippe Goas, Jordan Coris, Julien Asselineau, Maëlys Consigny, Gérald Le Gac, Serge Timsit   +11 more
wiley   +1 more source

The regulation of visitors conduction activity in the State System os Brazilian Conservation Units [PDF]

, 2016
Beyond to conserving biodiversity, conservation units must promote public use in contact with nature, assisting in increasing the economic resource of the area, approximating the society to nature and promoting their sustainable use. In Brazil, there are
Marques,Silvio César Moral, Canto-Silva, Celson Roberto, Ismail Barra Nova de Melo, Nascimento,Cristina Alves, Marques, Silvio César Moral, Celson Roberto Canto-Silva, Melo,Ismail Barra Nova de, Silvio César Moral Marques, Melo, Ismail Barra Nova de, Cristina Alves Nascimento, Canto-Silva,Celson Roberto, Nascimento, Cristina Alves   +11 more
core   +1 more source

Malha rodoviária e conflitos de conservação alha no cerrado: um estudo para a preservação de anfíbios = Road network and conservation conflicts in cerrado: a study for amphibian preservation

Acta Scientiarum: Biological Sciences, 2006
A criação de unidades de conservação tem sido uma importante ferramenta para minimizar a perda de biodiversidade. Entretanto, a alocação destas unidades deve ser otimizada de forma que possam preservar o maior número de espécies sob uma série de ...
Rodrigo de Jesus Silva, Ludgero Cardoso Galli Vieira, Míriam Plaza Pinto, Guilherme Oliveira, Bruno Souza Barreto   +4 more
doaj  

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

Arthritis Care &Research, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos, José Miguel Sequí‐Sabater, Diego Benavent   +2 more
wiley   +1 more source