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1.
Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders.
Mol Psychiatry
; 26(11): 6482-6504, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34021263
2.
Correction: Imbalanced post- and extrasynaptic SHANK2A functions during development affect social behavior in SHANK2-mediated neuropsychiatric disorders.
Mol Psychiatry
; 26(11): 6505, 2021 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-34234282
3.
Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
J Med Genet
; 53(2): 138-44, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26566883
4.
Investigation of SHANK3 in schizophrenia.
Am J Med Genet B Neuropsychiatr Genet
; 174(4): 390-398, 2017 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-28371232
5.
Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology.
Hum Mol Genet
; 21(2): 344-57, 2012 Jan 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-21994763
6.
Local patterns of genetic sharing challenge the boundaries between neuropsychiatric and insulin resistance-related conditions.
medRxiv
; 2024 Mar 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38496672
7.
The role of insulin/IGF1 signalling in neurodevelopmental and neuropsychiatric disorders - Evidence from human neuronal cell models.
Neurosci Biobehav Rev
; 153: 105330, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37516219
8.
SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells.
Sci Rep
; 11(1): 2128, 2021 01 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-33483523
9.
Generation of two hiPSC lines from a patient with autism spectrum disorder harboring a 120 kb deletion in SHANK2 and two control lines from each parent.
Stem Cell Res
; 49: 102004, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33002717
10.
Sex Hormones Regulate SHANK Expression.
Front Mol Neurosci
; 11: 337, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30319350
11.
A direct regulatory link between microRNA-137 and SHANK2: implications for neuropsychiatric disorders.
J Neurodev Disord
; 10(1): 15, 2018 04 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-29665782
12.
A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.
Eur J Hum Genet
; 25(12): 1324-1334, 2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-29255182
13.
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
Nat Genet
; 42(6): 489-91, 2010 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-20473310
14.
Poorly differentiated small cell carcinoma of the pancreas. A case report and review of the literature.
Pancreatology
; 4(6): 521-6, 2004.
Artículo
en Inglés
| MEDLINE | ID: mdl-15334003
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