research Characterisation of Myotonic Dystrophy type I cell models and drug evaluation by a cell- based quantification platform.
Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
Search
for
Sort by
Research
150-180 / 1000+ results 
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research USE OF TOFACITINIB IN DIFFICULT TO TREAT CLINICALLY AMYOPATHIC DERMATOMYOSITIS
Tofacitinib may effectively treat skin symptoms in difficult cases of dermatomyositis.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research Cutaneous Manifestations of Disease in Athletes
Athletes can experience various skin injuries from physical activity and environmental factors, and performance-enhancing drugs can also negatively affect their skin.
research Adult-onset porokeratotic eccrine ostial and dermal duct nevus:dermatoscopic findings and treatment with tazarotene
An adult with a rare skin condition improved with tazarotene treatment.
research Skin iconography analysis of traumatic anserine folliculosis: Skin image feature of TAF
TAF can be identified by excessive skin thickening and clogged hair follicles, helping distinguish it from similar skin conditions.
research Peripheral neuropathy associated with tofacitinib use in alopecia universalis
A patient developed nerve problems as a side effect of a hair loss treatment called tofacitinib.
research Hair Shaft Fracture in a Young Athlete: A Rare Case Report of Acquired Trichorrhexis Nodosa
A young athlete's fragile hair condition improved by cutting hair and using gentle shampoo.
research Painful piezogenic pitting of the fingers in older adults: A case series
Older adults may experience painful finger pitting due to nerve changes in aging skin, and treatments can help reduce symptoms.
research Thyrotoxic hypokalemic periodic paralysis in a Brazilian male: a case report
Consider THPP in patients with muscle weakness and low potassium, as it is often underdiagnosed.
research [Hypothyroid myopathy in a young adult].
Levothyroxine treatment fully cured the young man's hypothyroid symptoms.
research A 57-Year-Old Male Retired Colonel with Acute Ankle Swelling
The retired colonel's ankle swelling was caused by a reaction to the antibiotic levofloxacin.
research Contribution à l'étude du lien entre Annonaceae et parkinsonisme : identification et quantification d'acétogénines par déréplication; métabolisation de phase I et approche de la distribution de l'annonacine
Thymosin β4 helps with healing, inflammation, and organ protection.
research Pretibial Pruritic Papular Dermatitis: A Case Report and Emphasis on Effective Treatment with Pentoxifylline
Pentoxifylline effectively improves pretibial pruritic papular dermatitis.
research LB1601 Dermatomyositis-related panniculitis of the neck
A woman with dermatomyositis improved after treatment for neck panniculitis, suggesting similar treatment for related conditions.
research Trichothiodystrophy hair shafts display distinct ultrastructural features
Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
research Mechanisms of Impaired Skeletal Muscle Regeneration and Therapeutic Approaches in Aging and Chronic Disease
Aging and chronic diseases impair muscle repair, but integrated therapies like exercise and gene editing may help.
research Palmoplantar pustulosis–like eruption following tofacitinib therapy for juvenile idiopathic arthritis
Tofacitinib can cause skin eruptions similar to palmoplantar pustulosis.
research Ponatinib-induced pityriasis rubra pilaris-like adnexal dysmaturation: A case report
Ponatinib can cause a rare skin reaction that resolves with topical treatment and temporary drug discontinuation.
research Trichothiodystrophy: Current Concepts
TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
research Tineas—Superficial Dermatophyte Infections
Scalp fungal infections need oral antifungals, while other skin fungal infections can be treated with creams; keep areas dry and don't stop treatment early.
research Generalized trichoepitheliomas with alopecia and myasthenia gravis: Clinicopathologic and immunohistochemical study and comparison with classic and desmoplastic trichoepithelioma
Generalized trichoepitheliomas with hair loss may indicate myasthenia gravis.
research Commonly Misdiagnosed Rare Condition – Toe Tourniquet Syndrome – Literature Review
Toe Tourniquet Syndrome is often misdiagnosed.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Adipocytic Progenitor Cells Give Rise to Pathogenic Myofibroblasts: Adipocyte-to-Mesenchymal Transition and Its Emerging Role in Fibrosis in Multiple Organs
Targeting adipocyte-to-mesenchymal transition could help treat fibrosis.
research Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research Trichotillomania associated with the "Friar Tuck sign" and nail-biting.
Trichotillomania can be identified by a "Friar Tuck sign" and nail-biting.
research A 25-year-old female with a variable presentation of MCTD-A case report
Careful diagnosis and management of MCTD are crucial due to potential severe complications.