Search details
1.
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.
Genet Med
; 18(5): 452-8, 2016 05.
Article
in English
| MEDLINE | ID: mdl-26312827
2.
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.
Nat Genet
; 54(9): 1320-1331, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35982160
3.
Serotonin targets the DAF-16/FOXO signaling pathway to modulate stress responses.
Cell Metab
; 4(6): 429-40, 2006 Dec.
Article
in English
| MEDLINE | ID: mdl-17141627
4.
Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease.
Mol Genet Metab Rep
; 25: 100663, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-33101982
5.
Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3.
Pediatr Neurol
; 37(6): 407-10, 2007 Dec.
Article
in English
| MEDLINE | ID: mdl-18021921
6.
High-throughput screen detects calcium signaling dysfunction in typical sporadic autism spectrum disorder.
Sci Rep
; 7: 40740, 2017 02 01.
Article
in English
| MEDLINE | ID: mdl-28145469
7.
Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study.
Orphanet J Rare Dis
; 12(1): 25, 2017 02 08.
Article
in English
| MEDLINE | ID: mdl-28179030
8.
Ion channel functional candidate genes in multigenic neuropsychiatric disease.
Biol Psychiatry
; 60(2): 177-85, 2006 Jul 15.
Article
in English
| MEDLINE | ID: mdl-16497276
9.
Disruption of Transient Serotonin Accumulation by Non-Serotonin-Producing Neurons Impairs Cortical Map Development.
Cell Rep
; 10(3): 346-358, 2015 Jan 20.
Article
in English
| MEDLINE | ID: mdl-25600870
10.
Relative carnitine deficiency in autism.
J Autism Dev Disord
; 34(6): 615-23, 2004 Dec.
Article
in English
| MEDLINE | ID: mdl-15679182
11.
Why migraines strike.
Sci Am
; 299(2): 56-63, 2008 Aug.
Article
in English
| MEDLINE | ID: mdl-18666680
12.
Channelopathy pathogenesis in autism spectrum disorders.
Front Genet
; 4: 222, 2013 Nov 05.
Article
in English
| MEDLINE | ID: mdl-24204377
13.
[ATP1A2: a key player in familial hemiplegic migraine]. / ATP1A2: un facteur essentiel dans la migraine hémiplégique familiale.
Med Sci (Paris)
; 22(4): 341-3, 2006 Apr.
Article
in French
| MEDLINE | ID: mdl-16597394
14.
Genetic calcium signaling abnormalities in the central nervous system: seizures, migraine, and autism.
Ann N Y Acad Sci
; 1151: 133-56, 2009 Jan.
Article
in English
| MEDLINE | ID: mdl-19154521
15.
Alterations in the alpha2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2.
Proc Natl Acad Sci U S A
; 102(31): 11106-11, 2005 Aug 02.
Article
in English
| MEDLINE | ID: mdl-16037212
16.
Unraveling monogenic channelopathies and their implications for complex polygenic disease.
Am J Hum Genet
; 72(4): 785-803, 2003 Apr.
Article
in English
| MEDLINE | ID: mdl-12629596
17.
Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone.
J Hum Genet
; 48(8): 415-419, 2003.
Article
in English
| MEDLINE | ID: mdl-12938016
18.
Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver.
Eur J Pediatr
; 161(7): 377-9, 2002 Jul.
Article
in English
| MEDLINE | ID: mdl-12111189
19.
Kinetic alterations due to a missense mutation in the Na,K-ATPase alpha2 subunit cause familial hemiplegic migraine type 2.
J Biol Chem
; 279(42): 43692-6, 2004 Oct 15.
Article
in English
| MEDLINE | ID: mdl-15308625
20.
SK3-1C, a dominant-negative suppressor of SKCa and IKCa channels.
J Biol Chem
; 279(8): 6893-904, 2004 Feb 20.
Article
in English
| MEDLINE | ID: mdl-14638680