Results 101 to 110 of about 2,985,698 (230)

Clinical and laboratory correlates of selective autonomic dysfunction due to Ross syndrome

open access: yesJournal of Family Medicine and Primary Care, 2019
Ross syndrome is diagnosed by the presence of the characteristic triad of segmental anhidrosis, depressed deep tendon reflex, and tonic pupils. It is a rare, misdiagnosed autonomic disorder with less than 80 cases reported in the world literature.
Samhita Panda   +4 more
doaj   +1 more source

Clinical, Pathological, and Imaging Study of Pilomatrixoma: A Retrospective Study

open access: yesHealth Science Reports, Volume 9, Issue 2, February 2026.
ABSTRACT Background and Aims A retrospective analysis was conducted on the clinical, pathological, and imaging features of 471 cases of pilomatrixoma, aiming to enhance clinicians' understanding of pilomatrixoma. Methods A total of 471 cases of pilomatrixoma diagnosed and surgically treated in the Affiliated Hospital of Southwest Medical University ...
Qi Hao   +4 more
wiley   +1 more source

Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report

open access: yesBMC Neurology, 2019
Background Non-dystrophic myotonias (NDMs) are skeletal muscle disorders involving myotonia distinct from myotonic dystrophy. It has been reported that the muscle pathology is usually normal or comprises mild myopathic changes in NDMs.
Takanori Hata   +7 more
doaj   +1 more source

Direct AMPK Activation Confers Mutation‐Independent Therapeutic Benefit in Duchenne Muscular Dystrophy

open access: yesJournal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.
ABSTRACT Background Duchenne muscular dystrophy (DMD) is a severe, life‐limiting neuromuscular disorder (NMD) characterized by progressive muscle wasting and mitochondrial dysfunction. Although gene therapies offer promise, even those already approved by regulatory agencies, their use remains constrained by mutation specificity, delivery challenges and
Sean Y. Ng   +12 more
wiley   +1 more source

Mechanistic Insights Into NFIX‐Mediated DNA Recognition and Transcriptional Regulation in Skeletal Muscle

open access: yesSmart Medicine, Volume 5, Issue 1, February 2026.
An atomic view of the NFIX–DNA complex reveals recognition of the TGGCA motif and links sequence‐specific binding to the transcriptional programs governing skeletal muscle development and disease. ABSTRACT Skeletal muscle is essential for voluntary movement and exhibits a remarkable capacity for regeneration following injury.
Ci Zhu   +11 more
wiley   +1 more source

A practical approach to the patient presenting with dropped head [PDF]

open access: yes, 2016
Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
core   +1 more source

Orthopaedic Disorders in Myotonic Dystrophy Type 1: descriptive clinical study of 21 patients

open access: yesBMC Musculoskeletal Disorders, 2013
BackgroundMyotonic Dystrophy Type 1 (DM1) is the most common form of hereditary myopathy presenting in adults. This autosomal-dominant systemic disorder is caused by a CTG repeat, demonstrating various symptoms. A mild, classic and congenital form can be
L. Schilling   +3 more
semanticscholar   +1 more source

Prevalence and Impact of Probable REM Sleep Behavior Disorder in Essential Tremor: A Multicenter Cross‐Sectional Study

open access: yesEuropean Journal of Neurology, Volume 33, Issue 2, February 2026.
In our cohort, probable REM sleep behavior disorder (pRBD) was identified in 11.6% of essential tremor (ET) patients, while a meta‐analysis yielded pooled prevalence estimates of 16% for pRBD and 14% for RBD. Compared to ET patients without pRBD, those patients with pRBD exhibited a higher frequency of midline tremor, rest tremor, and a significantly ...
Yuzheng Wang   +17 more
wiley   +1 more source

Searching for candidate genes for male infertility [PDF]

open access: yes, 2003
Aim: We describe an approach to search for candidate genes for male infertility using the two human genome databases: the public University of California at Santa Cruz (UCSC) and private Celera databases which list known and predicted gene sequences and ...
Armes, JE   +4 more
core  

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