Results 51 to 60 of about 34,474,015 (115)

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Neurocognitive disorder in Myotonic dystrophy type 1

Heliyon
Cognitive deficits and abnormal cognitive aging have been associated with Myotonic dystrophy type 1 (DM1), but the knowledge of the extent and progression of decline is limited.
Stefan Winblad, Olöf Eliasdottir, Sara Nordström, Christopher Lindberg   +3 more
doaj   +1 more source

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source

Central and peripheral components of exercise-related fatigability in myotonic dystrophy type 1

, 2011
Fatigue frequently occurs in myotonic dystrophy type 1 (DM1), but its pathophysiology remains unclear. This study assessed central and peripheral components of exercise-related fatigability in patients with DM1, compared to ...
J.-P. Lefaucheur, D. Boërio, Boërio, D, J.-Y. Hogrel, Lefaucheur, J-P, Bassez, G, G. Bassez, Hogrel, J-Y   +7 more
core   +1 more source

Evaluating the performance of ChatGPT in responding to myotonic dystrophy type 1 patient inquiries: a specialist physician-based study

BMC Neurology
Background Advancements in artificial intelligence have led to the widespread use of large language models such as ChatGPT in healthcare communication.
Gülşah Çelik, Hanife Hale Hekim, Meral Bilgilisoy Filiz, Naciye Füsun Toraman   +3 more
doaj   +1 more source

A pedigree with myotonic dystrophy: electrophysiological and genetic characteristics

Chinese Journal of Contemporary Neurology and Neurosurgery
Objective To summarize the clinical, electrophysiological and genetic characteristics of a pedigree with myotonic dystrophy (DM). Methods and Results The 25-year-old male proband exhibited an occult onset, characterized by a distinctive "hatchet face ...
HUANG Jing, LEI Qian, LEI Xiao-yang, YANG Xiao-min, WAN Xiang-hong, HE Dian   +5 more
doaj   +1 more source

CTG trinucleotide repeat "big jumps": large expansions, small mice. [PDF]

PLoS Genetics, 2007
Trinucleotide repeat expansions are the genetic cause of numerous human diseases, including fragile X mental retardation, Huntington disease, and myotonic dystrophy type 1.
Mário Gomes-Pereira, Laurent Foiry, Annie Nicole, Aline Huguet, Claudine Junien, Arnold Munnich, Geneviève Gourdon   +6 more
doaj   +1 more source

Polymorphic myopathological findings in a 77‐year‐old woman with oculo‐bulbo‐facial and distal weakness

Brain Pathology, EarlyView.
Michele Tosi, Angela Puma, Elena Faedo, Gianmarco Severa, Luisa Villa, Sabrina Sacconi, Edoardo Malfatti   +6 more
wiley   +1 more source

Muscle Strength, Balance, and Indoor Mobility in Oculopharyngeal Muscular Dystrophy: An Exploratory Canadian Multicenter Study

Muscle &Nerve, Volume 74, Issue 3, Page 656-668, September 2026.
ABSTRACT Introduction/Aims Oculopharyngeal muscular dystrophy (OPMD) is a neuromuscular disease presenting with dysphagia, ptosis, and proximal weakness. Muscle strength and indoor mobility capacity have rarely been studied using standardized clinical outcome assessments (COAs). The objectives of this study were to (1) document muscle strength, balance,
Nicolas Bélair, Jean‐Denis Brisson, Bernard Brais, Xavier Rodrigue, Hanns Lochmüller, Luc J. Hébert, Jessica MacGregor, Brenda Dennison, Isabelle Lessard, Isabelle Côté, Elise Duchesne, Cynthia Gagnon   +11 more
wiley   +1 more source

Fragility fractures and bone mineral density in male patients affected by type 1 and type 2 myotonic dystrophy

, 2020
Myotonic dystrophy is a multisystemic disorder affecting skeletal muscle. Male patients have an increased risk of fractures and develop a number of endocrine/metabolic impairments known to adversely affect bone health. The aim of this study was primarily
Corbetta, S, Passeri, E, Sconfienza, M, Sansone, VA, Messina, C, Meola, G   +5 more
core   +2 more sources