research No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
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research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research Clinical case of a patient with progressive supranuclear palsy – from symptom to diagnosis
Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Parry–Romberg Syndrome: Radioclinical Dissociation in a Paucisymptomatic Form and a Proposed Diagnostic Framework
Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.
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 Reversible severe myopathy during treatment with finasteride
research Reversible severe myopathy during treatment with finasteride
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
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 Agitation as a Paradoxical Effect of Divalproex Sodium: A Case Report
Divalproex sodium can sometimes worsen behavior in some patients.
research [A case of "syndrome of progressive muscle spasm, alopecia, and diarrhea (Satoyoshi)" treated with steroid pulse therapy].
Steroid pulse therapy improved symptoms in a man with Satoyoshi syndrome.
research Atypical post-finasteride syndrome: A pharmacological riddle
Finasteride and dutasteride can cause severe, lasting side effects.
research Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research Pathological findings in a case of stiff person syndrome with anti‐GAD antibodies
Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
research Desferrioxamine treatment of aceruloplasminemia: Long‐term follow‐up
Finasteride may help reduce symptoms in male Tourette syndrome patients.
research Case 4-2012
Early diagnosis and treatment of TPP can prevent complications.
research Encephalitis lethargica due to Epstein–Barr virus infection
Finasteride may help reduce tic severity in male Tourette syndrome patients.
research Acute inflammatory demyelinating polyneuropathy associated with pegylated interferon α 2a therapy for chronic hepatitis C virus infection
Pegylated interferon-alpha 2a can cause a rare nerve disorder, but early treatment can lead to full recovery.
research Agitation as a Paradoxical Effect of Divalproex Sodium: A Case Report
Divalproex sodium can unexpectedly cause agitation and hyperactivity in some patients.
research Acquired progressive kinking of the hair in the setting of Parry-Romberg Syndrome
A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.
research Das Trichorhinophalangealsyndrom
Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
research Seizure control and side-effect profile after switching adult epileptic patients from standard to extended-release divalproex sodium
Switching to extended-release divalproex sodium improved patient-reported tremor but did not change seizure frequency or most side effects.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology
A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research A preliminary study of finasteride in Tourette syndrome
Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.
research Parry-Romberg Syndrome: A Rare Case with Diagnostic Challenges and Orthodontic Implications
Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
research Trazodone and chlorpromazine a proposal treatment for syndrome post-finasteride and syndrome of post-selective serotonin reuptake inhibitors (post-SSRI)
Trazodone and chlorpromazine may help treat sexual dysfunction caused by finasteride and SSRIs.
research Trazodone and chlorpromazine a proposal treatment for syndrome post-finasteride and syndrome of post-selective serotonin reuptake inhibitors (post-SSRI)
Trazodone and Chlorpromazine might help treat sexual dysfunction from finasteride and SSRIs.