Results 141 to 150 of about 880,901 (339)

Expanding molecular and clinical spectrum of CPT1C‐associated hereditary spastic paraplegia (SPG73)—a case series

open access: yesAnnals of Clinical and Translational Neurology
Autosomal‐dominant variants in the CPT1C gene have been associated with hereditary spastic paraplegia type 73 (SPG73), which typically presents with slowly progressive lower limb weakness and spasticity and is therefore considered a pure form of ...
Alexandra K. Brooks   +5 more
doaj   +1 more source

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen   +47 more
wiley   +1 more source

Risk factors for spread of primary adult onset blepharospasm: a multicentre investigation of the Italian movement disorders study group [PDF]

open access: bronze, 1999
Giovanni Defazio   +17 more
openalex   +1 more source

Stage‐Dependent Inhibitory Connectivity in Striatal‐Motor Circuit in Huntington's Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Elucidating dysfunctional connectivity patterns among key brain regions in Huntington's disease (HD) underlying progression may have implications for developing treatment and therapeutic evaluation. Objective Explore the relationship between abnormal spontaneous resting‐state activity and atrophy in HD‐specific brain regions and ...
Yinghua Jing   +4 more
wiley   +1 more source

A Systematic Clinical Framework for Postimplantation Monitoring in Thalamic Neuromodulation: Insights From Twiddler's Syndrome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This case described a 25‐year‐old pregnant woman with refractory multifocal epilepsy, diagnosed in 2020 and treated with bilateral thalamic deep brain stimulation (DBS) targeting the centromedian and pulvinar nuclei. Prior to DBS, she experienced daily focal seizures, often progressing to generalized tonic–clonic seizures despite optimal ...
Shalin Shah   +4 more
wiley   +1 more source

Treatment of periodic leg movement disorder and restless leg syndrome with talipexole [PDF]

open access: bronze, 1999
Yuichi Inoue   +3 more
openalex   +1 more source

Molecular Screening of SCN1A‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early ...
Jia Wang   +11 more
wiley   +1 more source

Globus Pallidum DBS for Task-Specific Dystonia Symptoms in a Professional Golfer

open access: yesTremor and Other Hyperkinetic Movements, 2018
Aparna Wagle Shukla   +8 more
doaj   +1 more source

American College of Rheumatology Guidance Statements for Addressing Mental Health Concerns in Youth With Pediatric Rheumatologic Diseases

open access: yesArthritis Care &Research, EarlyView.
Objective Pediatric rheumatologic diseases (PRDs) are characterized by high rates of anxiety and depression known to impact health‐related outcomes. We present guidance statements to assess and manage mental health concerns for youth with PRDs in pediatric rheumatology practice.
Natoshia R. Cunningham   +21 more
wiley   +1 more source

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