Results 51 to 60 of about 1,153,947 (162)

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin‐Related Congenital Myopathy

Human Mutation, Volume 2026, Issue 1, 2026.
Congenital nemaline myopathies are rare genetic disorders that typically manifest at birth or in childhood, with muscle weakness and respiratory distress. They are characterized by the presence of rod‐like structures on the muscle biopsy, or a mix of rods with cores, focal areas with disorganization of oxidative activity. Pathogenic variants in the NEB
Yvan de Feraudy, Anthony Maino, Morgane Boedec, Xavière Lornage, Norma B. Romero, Soledad Monges, Fabiana Lubieniecki, Marίa Eugenia Foncuberta, Celine Tard, Claude-Alain Maurage, Marie Csanyi, Pascale Marcorelles, Tanya Stojkovic, Leonard Feasson, Mélanie Fradin, Gaelle Gousse, Vincent Laugel, Marion Masingue, Aleksandra Nadaj-Pakleza, Jorge Alfredo Bevilacqua, NEB study group, John Rendu, Johann Bohm, Valérie Biancalana, Jocelyn Laporte, Suraiya Saleem   +25 more
wiley   +1 more source

MLH1 Constitutional Epimutation Screening Requires Highly Sensitive Assays to Identify Lynch Syndrome Patients With Very Low Mosaic Methylation Level

Human Mutation, Volume 2026, Issue 1, 2026.
Constitutional epimutations of the MLH1 gene are an alternative cause of Lynch syndrome, in which inactivation of an allele of a mismatch repair (MMR) gene results from MLH1 promoter methylation, rather than a pathogenic genetic variant. These epimutations are often mosaic, and methylation levels ranging from ~50% monoallelic methylation to low‐level ...
Cédric Facon, Catherine Vermaut, Lucie Delattre, Cathy Flament, Antoine Dardenne, Afane Brahimi, Sophie Lejeune, Stéphane Cattan, Francoise Bonnet, Noémie Basset, Anika Bensen, Anais Dupré, Pascaline Berthet, Marion Dhooge, Chrystelle Colas, Emmanuelle Mouret-Fourme, Hélène Delhomelle, Sophie Nambot, Amandine Baurand, Marc Planes, Julie Menjard, Patrick R. Benusiglio, Pascal Pigny, Marie-Pierre Buisine, Julie Leclerc, Priya Gusain   +25 more
wiley   +1 more source

Sub-acute presentation of Morvan's syndrome after thymectomy [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2004
A 70 year old male presented in February 2000 with persistent cough. Chest radiograph revealed a mediastinal abnormality. A computed tomography (CT) scan of the thorax confirmed an anterior mediastinal mass. CT guided mediastinal biopsy was performed but proved inconclusive. The patient declined further invasive investigation for 2 years.
Cottrell, D, Blackmore, K, Fawcett, P, Birchall, D, Vincent, A, Barnard, S, Walls, T   +6 more
openaire   +1 more source

The gut microbiome associated with LGI1‐antibody encephalitis

Epilepsia, Volume 66, Issue 11, Page 4411-4424, November 2025.
Abstract Objective Autoimmune encephalitis is a cause of brain inflammation characterized by auto‐antibodies, which target cell surface neuronal proteins and lead to neuronal dysfunction. The most common form is associated with auto‐antibodies to leucine‐rich glioma‐inactivated 1 (LGI1) protein, the presentation of which includes frequent focal ...
Edmund Gilbert, Sophie Binks, Valentina Damato, Christopher Uy, Paula Colmenero, Mark Kelly, Mohamed Ibrahim Khalil, Marcus O'Brien, Marcus J Claesson, John F. Cryan, Norman Delanty, Sarosh R. Irani, Gianpiero L. Cavalleri   +12 more
wiley   +1 more source

The oral mucosal and salivary microbial community of Behçet's syndrome and recurrent aphthous stomatitis. [PDF]

, 2015
This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License, permitting all non-commercial use, distribution, and reproduction in any medium, provided the original work is ...
Bergmeier, LA, Noha Seoudi, Bruce Paster, Farida Fortune, Paster, B, Francis Drobniewski, Lesley A. Bergmeier, Drobniewski, F, Fortune, F, Seoudi, N   +9 more
core   +1 more source

Beyond the Surface: Investigating the Potential Mechanisms of Non‐Motor Symptoms in Myasthenia Gravis

European Journal of Neurology, Volume 32, Issue 8, August 2025.
We review the non‐motor symptoms of MG and their potential pathogenesis, hoping to contribute to personalized diagnosis and treatment. ABSTRACT Background Myasthenia gravis (MG) is an autoimmune disorder affecting the neuromuscular junction (NMJ), driven by T cells, mediated by B cells, and dependent on autoantibodies.
Benqiao Wang, Dan Liu, Yingying Yang, Ruixia Zhu   +3 more
wiley   +1 more source

Systematic Assessment of Dysexecutive Syndrome, Hypersomnolence and Dysautonomia in Kleine‐Levin Syndrome

European Journal of Neurology, Volume 32, Issue 7, July 2025.
ABSTRACT Background Kleine‐Levin Syndrome (KLS) is a neurological disorder of unknown pathophysiology. It is characterized by relapsing–remitting episodes of hypersomnia, with cognitive symptoms and behavioral disturbances. The diagnosis relies on clinical criteria, which require further standardization.
Lucie Barateau, Joseph Diab, Ophélie Thobois, Sofiene Chenini, Séverine Béziat, Isabelle Jaussent, Yves Dauvilliers   +6 more
wiley   +1 more source

Autoimmune encephalitis and sleep disorders

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
Research shows that autoimmune encephalitis is associated with sleep disorders. Paraneoplastic neurological syndrome (PNS) with Ma2 antibodies can cause sleep disorders, particularly narcolepsy and rapid eye movement sleep behavior disorder (RBD). Limbic
Yan HUANG, Hong-lin HAO
doaj  

The cerebellum in epilepsy

Epilepsia, Volume 66, Issue 6, Page 1773-1792, June 2025.
Abstract The cerebellum, a subcortical structure, is traditionally linked to sensorimotor integration and coordination, although its role in cognition and affective behavior, as well as epilepsy, is increasingly recognized. Cerebellar dysfunction in patients with epilepsy can result from genetic disorders, antiseizure medications, seizures, and seizure‐
Christopher Elder, Rebecca Kerestes, Puneet Opal, Maria Marchese, Orrin Devinsky   +4 more
wiley   +1 more source

Epidemiology of Gaucher Disease in France: Trends in Incidence, Mortality, Management, and Complications Over Three Decades

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Gaucher disease (GD) is a rare autosomal‐recessive lysosomal disorder caused by glucocerebrosidase deficiency. In this study, we described the epidemiology of GD in France over more than three decades. The French GD registry (FGDR) includes all known patients with GD in France.
Yann Nguyen, Maxime Beydon, Karima Yousfi, Samira Zebiche, Dalil Hamroun, Anaïs Brassier, Samia Pichard, Laure Swiader, Thierry Billette de Villemeur, Bénédicte Héron, Florence Dalbies, Bérengère Cador, Anne‐Sophie Guemann, Francis Gaches, Bénédicte Hivert, Vanessa Leguy‐Seguin, Agathe Masseau, Robin Deshayes, Yves‐Marie Pers, Magali Pettazzoni, Soumeya Bekri, Catherine Caillaud, Edouard Le Guillou, Marie Szymanowski, Leonardo Astudillo, Wladimir Mauhin, Yann Nadjar, Christine Serratrice, Marc G. Berger, Fabrice Camou, Nadia Belmatoug, Jérôme Stirnemann, French Evaluation of Gaucher Disease Treatment Committee   +32 more
wiley   +1 more source