Results 201 to 210 of about 1,109,166 (346)

The risk of mental disorders in patients with disorders/differences of sex differentiation/development (DSD) and Y chromosome

open access: gold, 2020
Katarzyna Bajszczak   +4 more
openalex   +2 more sources

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron   +5 more
wiley   +1 more source

An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco   +7 more
wiley   +1 more source

ALS With and Without Upper Motor Neuron Signs: A Comparative Study Supporting the Gold Coast Criteria

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung   +7 more
wiley   +1 more source

Prevalence of Pincer Morphology in Early Adolescents From the General Population: A Population‐Based Study

open access: yesArthritis Care &Research, EarlyView.
Objective Pincer morphology can lead to femoroacetabular impingement syndrome (FAIS) and may be a modifiable risk factor for hip osteoarthritis (OA). Currently, no studies investigate the prevalence of pincer morphology in early adolescence, which is the period when this bony shape likely develops.
Delong Chen   +6 more
wiley   +1 more source

Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development [PDF]

open access: bronze, 2014
Ruth M. Baxter   +20 more
openalex   +1 more source

Trends in Dermatopolymyositis Mortality, 1999–2022: A Nationwide Population‐Based Study, United States

open access: yesArthritis Care &Research, EarlyView.
We report the national burden of dermatopolymyositis mortality over the past quarter century using the US national vital statistics data. Age‐standardized mortality rates for dermatopolymyositis decreased at an annual rate of 3.8% each year, which was higher than the annual percent decrease for deaths from all other causes.
Elizabeth Matz, Ram R. Singh
wiley   +1 more source

FSH Injections and Ultrasonography Determine Presence of Ovarian Components in the Evaluation of Ovotesticular Disorders of Sex Development

open access: diamond, 2009
Shannon E. French   +6 more
openalex   +1 more source

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