Results 201 to 210 of about 155,959 (265)

Gait Alterations Due to DCC Gene Variants in Individuals with Congenital Mirror Movements

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Congenital Mirror Movement Syndrome (CMMS) involves involuntary movements on one side of the body while voluntary movements are performed on the other side. They disrupt left–right coordination and can be caused by a pathogenic variant in the DCC gene.
Nok‐Yeung Law   +7 more
wiley   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad   +2 more
wiley   +1 more source

Differences between mitotically old and young endometrial tumors

open access: yesThe Journal of Pathology, EarlyView.
Abstract Human tumors likely differ in their mitotic ages, reflecting how many divisions elapse between the final tumor progenitor cell and surgical removal. We used a rapidly fluctuating CpG (fCpG) methylation clock to infer relative endometrial adenocarcinomas (EAC) mitotic ages.
Kellie Kim, Darryl Shibata
wiley   +1 more source

The non-linear and linear effects of CYP2C19 metaboliser status on DNA methylation: a methylome-wide association study. [PDF]

open access: yesClin Epigenetics
Shen C   +7 more
europepmc   +1 more source

Blood DNA methylation of EIF5A and TGIF1 is associated with adipose tissue health and metabolic outcomes in obesity: a multi-cohort study. [PDF]

open access: yesClin Epigenetics
Ruf S   +18 more
europepmc   +1 more source

Biallelic germline MBD4 mutations predispose to colorectal polyposis, hypermutated AML, and schwannomas. [PDF]

open access: yesFam Cancer
Cooper J   +8 more
europepmc   +1 more source

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