Results 51 to 60 of about 11,022 (215)

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

open access: yesAdvanced Science, EarlyView.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska   +14 more
wiley   +1 more source

A case of epigastric heteropagus twinning with other congenital abnormalities in a Chihuahua puppy [PDF]

open access: yes, 2012
A two-year-old Chihuahua was presented on day 58 of pregnancy due to very marked abdominal distension. A cesarean section was performed and five normal and one clearly abnormal puppy were delivered.
Barrand, KR, Cornillie, Pieter, House, J
core  

Paclitaxel resistance by random mutagenesis of α‐tubulin [PDF]

open access: yes, 2013
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/102075/1/cm21154-sup-0001-suppfig1.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/102075/2/cm21154-sup-0002-suppfig2.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/102075/3/cm21154 ...
Abraham   +56 more
core   +1 more source

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

open access: yesEpileptic Disorders, EarlyView.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini   +6 more
wiley   +1 more source

Lissencephaly: Causal Heterogeneity

open access: yesPediatric Neurology Briefs, 1992
Clinical, cytogenetic and molecular studies in 65 patients with isolated lissencephaly sequence (ILS) are reported from Indiana University School of Medicine, Indianapolis; Tufts New England Medical Center, Boston; Eastern Virginia Medical School ...
J Gordon Millichap
doaj   +1 more source

Anesthetic Management and Bispectral Index in a Child with Miller–Dieker Syndrome: A Case Report

open access: yesChildren, 2023
Miller–Dieker syndrome (MDS) is a genetic disorder characterized by classic lissencephaly, distinctive facial features, intellectual disability, seizures, and early death. The anesthetic management of patients with MDS should focus on airway manipulation
Sang Jin Park   +3 more
doaj   +1 more source

Polymicrogyria: pathology, fetal origins and mechanisms [PDF]

open access: yes, 2014
Polymicrogyria (PMG) is a complex cortical malformation which has so far defied any mechanistic or genetic explanation. Adopting a broad definition of an abnormally folded or festooned cerebral cortical neuronal ribbon, this review addresses the ...
Anna Jansen, Waney Squier
core   +1 more source

Mental health impacts experienced by caregivers of people with Dravet syndrome: A systematic literature review

open access: yesEpilepsia, EarlyView.
Graphical abstract for the systematic literature review. Abstract Objective Dravet syndrome (DS) places tremendous burden on caregivers owing to the extent of required assistance and impact on daily living, as well as the risk to the individual with DS of premature mortality from sudden unexpected death in epilepsy and morbidity associated with ...
Adam Strzelczyk   +8 more
wiley   +1 more source

Diagnostic reassessment in patients previously diagnosed with childhood‐onset epilepsy during the transition to adult care: A retrospective cohort study in a tertiary epilepsy center

open access: yesEpilepsia Open, EarlyView.
Abstract Objective To investigate the frequency, predictors, and clinical implications of diagnostic reassessment in patients previously diagnosed with childhood‐onset epilepsy during the transition period to adult care at a tertiary epilepsy center. Methods We conducted a retrospective cohort study of 317 patients previously diagnosed with childhood ...
Tetsuhiro Fukuyama   +9 more
wiley   +1 more source

Lizensefali Tip 1'in eşlik ettiği dikkat eksikliği ve hiperaktivite bozukluğu

open access: yesSakarya Tıp Dergisi, 2012
Dikkat Eksikliği Hiperaktivite Bozukluğu (DEHB) dikkatsizlik, dikkat dağınıklığı, yerinde duramama,aşırı hareketlilik, dürtüsellik ile karakterizedir. DEHB'de beyinde yapısal ve fonksiyonel değişikliklerin olduğuna dair kanıtlar vardır.
Dilcan Kotan   +2 more
doaj   +1 more source

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