Results 261 to 270 of about 3,117,325 (331)

The Case of a 28‐Year‐Old Woman With Medically Refractory Focal Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present the case of a 28‐year‐old right‐handed woman with medically refractory focal epilepsy. Her seizure semiology and electroencephalography (EEG) indicated a seizure onset zone in the right central‐parietal area. However, both MRI and PET scans were unremarkable, showing no focal lesions or areas of altered metabolism.
Rishi Sharma, Ilo Leppik, Thomas Henry, Thaddeus Walczak, Sima Patel, Robert McGovern   +5 more
wiley   +1 more source

A preliminary adaptation and validation of the genetic counseling outcome scale (GCOS-24) for use in Greece. [PDF]

J Genet Couns
Makri M, Palasidou A, Moraitou D, Tegos T, Fidani L, Tsolaki M.   +5 more
europepmc   +1 more source

Who should I bring? A qualitative examination of the role of the support person in the cancer genetic counseling appointment

, 2014
Ruth M. Swartwood
openalex   +1 more source

The McCance Brain Care Score and Mortality: Evidence From a Large‐Scale Population‐Based Cohort

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives This study aimed to examine the relationship between the McCance Brain Care Score (BCS) and mortality in the general population. Methods We conducted a prospective, population‐based cohort study using data from the UK Biobank. Participants with complete data enabling calculation of BCS and full mortality information were included ...
Zhiqiang Xu, Xiaoxiao Wang, Nan Li
wiley   +1 more source

Perceptions of sickle cell disease and genetic counseling among single young adults in Tamale, Ghana. [PDF]

J Community Genet
Yussif AK, Osei-Tutu A, Osae-Larbi JA.
europepmc   +1 more source

Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew, Maryam Kargaran, Maik Rothe, Andreas Deistung, Dietrich Stoevesandt, Walter A. Wohlgemuth, David Strube, Thomas Kendzierski, Anna Katharina Kölsch, Maurits Gerhard Abraham Heuschen, Markus Otto, Alexander Mensch   +11 more
wiley   +1 more source

Parental knowledge and attitudes toward genetic counseling and childhood genetic testing for congenital anomalies in Qatar. [PDF]

J Genet Couns
Alkilani HM, El-Akouri K, Farooq A, Shi Z, Al-Shafai M, Stotland M, Khodjet-El-Khil H.   +6 more
europepmc   +1 more source

Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel, Charlotte Hennessey, Hannah Lee, Pia Parekh, Sheng‐Han Kuo, Ami Kumar   +5 more
wiley   +1 more source

Paternal mosaicism in <i>ASXL3</i>-related bainbridge-ropers syndrome: implications for genetic counseling and prenatal diagnosis. [PDF]

Front Pediatr
Zhao B, Ding F, Hou F, Jin H.
europepmc   +1 more source