Results 71 to 80 of about 4,929 (174)

Transthyretin amyloid cardiomyopathy in France: A cross-sectional multi-centre study (333 patients)

Rare
Aims: We designed a two-part epidemiological study, an observatory for amyloid transthyretin amyloidosis (OBSAMYL). The first objective was to identify and count the number of patients diagnosed with ATTR amyloidosis in participating French centres.
Thibaud Damy, Erwan Donal, Olivier Lairez, Jean-Christophe Eicher, Mounira Karoubi, Jean-Noël Trochu, Jocelyn Inamo, Gilbert Habib, François Roubille, Albert Hagège, Flore Morio, Eve Cariou, Jérôme Adda, Vincent Algalarrondo, Agathe Coste, Mathilde Bartoli, Jérémie Rudant, Lara Salvi, Bruno Francou, Anne Guiochon-Mantel, David Adams, Jean-Christophe Antoine, Shahram Attarian, Pascal Cintas, Raul Juntas Morales, Emmeline Lagrange, Laurent Magy, Martial Mallaret, Yann Péréon, Philippe Petiot, Cécile Cauquil, Céline Labeyrie, Andoni Echaniz-Laguna, Guilhem Sole, Céline Tard, Silvia Oghina, Philippe Charron, Michel Slama   +37 more
doaj   +1 more source

Gene-based therapies for neuromuscular disorders

Arquivos de Neuro-Psiquiatria
Neuromuscular diseases (NMD) include a broad group of medical conditions with both acquired and genetic causes. In recent years, important advances have been made in the treatment of genetically caused NMD, and most of these advances are due to the ...
Edmar Zanoteli, Marcondes Cavalcante França, Wilson Marques   +2 more
doaj   +1 more source

Real-life experience with inotersen at CEPARM, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro

Arquivos de Neuro-Psiquiatria
Background Hereditary transthyretin amyloidosis (ATTRv) is an inherited, progressive, and fatal disease still largely underdiagnosed. Mutations in the transthyretin (TTR) gene cause the TTR protein to destabilize, misfold, aggregate, and ...
Moises Dias, Luiz Felipe Pinto, Marcus Vinícius Pinto, Renata Gervais, Paula Accioli, Gabriela Amorim, Mariana Guedes, Carlos Perez Gomes, Roberto Coury Pedrosa, Márcia Waddington-Cruz   +9 more
doaj   +1 more source

Issue Information

Brain Pathology, Volume 36, Issue 4, July 2026.
wiley   +1 more source

DN4 Is Not a Screening Tool for Small Fiber Neuropathy: An Expected Result

European Journal of Neurology, Volume 33, Issue 6, June 2026.
Jean‐Pascal Lefaucheur
wiley   +1 more source

Pathophysiology of diabetes mellitus type 2: beyond the duo "insulin resistance-secretion deficit"

Nutrición Hospitalaria, 2013
T2DM involves at least two primary pathogenic mechanisms: (a) a progressive decline in pancreatic islet cell function resulting in reduced insulin secretion and (b) peripheral insulin resistance resulting in a decrease in the metabolic responses to ...
C. A. Carrera Boada, J. M. Martínez-Moreno   +1 more
doaj  

Plenary Abstracts Session & Oral Presentations

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Estudio clínico de pacientes con neuropatía mielo-óptica

Revista Cubana de Medicina, 2001
Se detectó, en una región del distrito de Buzi, provincia de Sofala, en Mozambique, la aparición de numerosos casos con trastorno de la marcha, parestesias y alteraciones visuales, lo que motivó la investigación de este fenómeno.
Pedro Casanova Sotolongo, Pedro Casanova Carrillo   +1 more
doaj  

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source