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Large Phenotypic Variation of Individuals from a Family with a Novel ASPM Mutation Associated with Microcephaly, Epilepsy, and Behavioral and Cognitive Deficits

• Authors : von Wrede, Randi; Schidlowski, Martin; Kunz, Wolfram S.

Subjects: info:eu-repo/classification/ddc/570; Biological Variation; PopulationDE

• Source: Genes 13(3), 429 (2022). doi:10.3390/genes13030429

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Intra-individual Variability in Prodromal Huntington Disease and Its Relationship to Genetic Burden.

• Authors : Musso, Mandi; Westervelt, Holly James; Long, Jeffrey D

Subjects: PREDICT-HD Investigators of the Huntington Study Group; Humans; Huntington Disease

• Source: Journal of the International Neuropsychological Society : JINS. 21(1)

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The expression of the distal dystrophin isoforms Dp140 and Dp71 in the human epileptic hippocampus in relation to cognitive functioning

• Authors : Hoogland, Govert; Hendriksen, Ruben G F; Slegers, Rutger J

Subjects: Adult; Cognition/physiology; Cognition Disorders/genetics

• Source: Hoogland , G , Hendriksen , R G F , Slegers , R J , Hendriks , M P H , Schijns , O E M G , Aalbers , M W & Vles , J S H 2019 , ' The expression of the distal dystrophin isoforms Dp140 and Dp71 in the

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Human cyclophilin 40 unravels neurotoxic amyloids.

• Authors : Baker, Jeremy D; Shelton, Lindsey B; Suntharalingam, Amirthaa

Subjects: info:eu-repo/classification/ddc/610; Alzheimer Disease: genetics; Alzheimer Disease: metabolismDE

• Source: PLoS biology 15(6), e2001336 (2017). doi:10.1371/journal.pbio.2001336

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BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

• Authors : Dias, Cristina; Estruch, Sara B; Graham, Sarah A

Subjects: Animals; Carrier Proteins/chemistry; Cerebral Cortex/metabolism

• Source: Dias , C , Estruch , S B , Graham , S A , McRae , J , Sawiak , S J , Hurst , J A , Joss , S K , Holder , S E , Morton , J E V , Turner , C , Thevenon , J , Mellul , K , Sánchez-Andrade , G ,

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An amyloid-like cascade hypothesis for C9orf72 ALS/FTD.

• Authors : Edbauer, Dieter; Haass, Christian

Subjects: info:eu-repo/classification/ddc/610; Amyotrophic Lateral Sclerosis: genetics; Amyotrophic Lateral Sclerosis: metabolismDE

• Source: Current opinion in neurobiology 36, 99-106 (2016). doi:10.1016/j.conb.2015.10.009

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Pan-PPAR modulation effectively protects APP/PS1 mice from amyloid deposition and cognitive deficits.

• Authors : Kummer, Markus P; Schwarzenberger, Rafael; Sayah-Jeanne, Sakina

Subjects: info:eu-repo/classification/ddc/570; Amyloid beta-Protein Precursor: genetics; AnimalsDE

• Source: Molecular neurobiology 51(2), 661-671 (2014). doi:10.1007/s12035-014-8743-4

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TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment ; Les mutations du gène TMEM240 provoquent l'ataxie spinocérébelleuse 21 avec un retard mental et des troubles cognitifs sévères

• Authors : Delplanque, Jérôme; Devos, David; Huin, Vincent ...

Subjects: Spinocerebellar ataxia; TMEM240; exome

• Source: ISSN: 0006-8950.

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In vivo radioligand binding to translocator protein correlates with severity of Alzheimer�셲 disease

• Authors : William C. Kreisl; Chul Hyoung Lyoo; Meghan McGwier

Subjects: Age of Onset; Aged; 80 and over

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AMPK 款2 subunit gene PRKAG2 polymorphism associated with cognitive impairment as well as diabetes in old age

• Authors : Kim Eosu; Lee Sung Hee; Lee Kang Soo

Subjects: AMP-Activated Protein Kinases/genetics; Age Factors; Aged

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