research Diagnosis and treatment of methylmalonic acidemia in 14 cases
Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
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330-360 / 1000+ resultsresearch A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Clinical Conditions Targeted by OnabotulinumtoxinA in Different Ways in Medicine
OnabotulinumtoxinA is used to treat wrinkles, pain, sweating, hair loss, and more by temporarily paralyzing muscles and affecting pain pathways.
research Acquired Localized Hypertrichosis Induced by Rivastigmine
An 80-year-old man grew extra hair on his forearms after starting Alzheimer's medication rivastigmine.
research Taste disorders and alopecia in myasthenia gravis
Clinicians should recognize taste disorders and hair loss as important symptoms in myasthenia gravis patients.
research Single injection of very mild dose botulinum toxin in the vastus lateralis improves testicular spermatogenesis and sperm motility in ageing experimental mice
A mild botulinum toxin injection improved sperm production and movement in aging mice.
research USO DE ESTIMULAÇÃO CEREBRAL PROFUNDA (DBS) PARA O TRATAMENTO DA DOENÇA DE PARKINSON
Deep Brain Stimulation helps manage Parkinson's symptoms when medication isn't enough.
research Author response: Smad4 restricts differentiation to promote expansion of satellite cell derived progenitors during skeletal muscle regeneration
SMAD4 is crucial for muscle repair in young adults but not in aged mice.
research PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect
A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
research Abnormal Saccadic Oscillations Associated with Severe Acute Respiratory Syndrome Coronavirus 2 Encephalopathy and Ataxia
A man developed neurological issues from SARS-CoV-2 without severe breathing problems, worsening to death.
research A Case of Hemi‐Isaac's Syndrome
A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
research SAT-510 Association of Myotonic Dystrophy with Autoimmune Endocrinopathies and Thyroid Carcinoma
A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
research P153 : Safety and Efficacy of botulinum toxin on male pattern baldness
Botulinum toxin type A is a safe and effective treatment for male pattern baldness.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research AS FINALIDADES TERAPÊUTICAS DA TOXINA BOTULÍNICA TIPO A
Botulinum Toxin Type A effectively treats various conditions with high patient satisfaction and minimal side effects.
research Disease Prevention and Alleviation by Human Myoblast Transplantation
Myoblast transplantation shows promise for treating various muscle and heart conditions.
research Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome
Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
research Exploring lncRNA-Mediated Mechanisms in Muscle Regulation and Their Implications for Duchenne Muscular Dystrophy
LncRNAs play a crucial role in muscle regulation and could help develop treatments for Duchenne muscular dystrophy.
research Multiple Myeloma–Associated Amyloidosis Presenting With Acrolocalized Acquired Cutis Laxa
A man with rare skin changes on his fingers was diagnosed with multiple myeloma-linked amyloidosis.
research Hutchinson-Gilford Progeria Syndrome: Premature Aging
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
research The emerging role of cellular senescence in amyotrophic lateral sclerosis
Cellular senescence may play a role in ALS, and anti-senescence therapies could be a promising treatment.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research Alpha Smooth Muscle Actin role in Androgenetic Alopecia Pathogenesis:
Reduced alpha smooth muscle actin may cause hair loss in androgenetic alopecia.
research Spiny Keratoderma
Spiny keratoderma is a rare skin condition with small spines on palms and soles, possibly linked to abnormal hair formation.
research The clinical features, muscle pathology, and role of autophagy in anti-Ku-positive patients
Anti-Ku antibodies are linked to unique symptoms and may involve autophagy issues.
research Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research S3301 Abnormal Liver Enzymes in Thymoma-Associated Multiorgan Autoimmunity
Thymoma-associated multiorgan autoimmunity can cause liver damage and affects multiple organs, with limited treatment options and a generally poor prognosis.
research Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: A cross-sectional study
People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.