Detalhe da pesquisa
1.
Fragile X-associated disorders: Don't miss them.
Aust Fam Physician
; 46(7): 487-491, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28697292
2.
Cognitive Dysfunction in Chronic Fatigue Syndrome: a Review of Recent Evidence.
Curr Rheumatol Rep
; 18(5): 24, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27032787
3.
Selective subcortical contributions to gait impairments in males with the FMR1 premutation.
J Neurol Neurosurg Psychiatry
; 88(2): 188-190, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27683920
4.
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
J Med Genet
; 47(2): 137-41, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19589774
5.
Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.
BMC Med Genet
; 11: 70, 2010 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-20459762
6.
Problems managed and medications prescribed during encounters with people with autism spectrum disorder in Australian general practice.
Autism
; 22(8): 995-1004, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28914073
7.
Performance-Based Assessment of Instrumental Activities of Daily Living: Validation of the Sydney Test of Activities of Daily Living in Memory Disorders (STAM).
J Am Med Dir Assoc
; 18(2): 117-122, 2017 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27720663
8.
Cerebellar volume mediates the relationship between FMR1 mRNA levels and voluntary step initiation in males with the premutation.
Neurobiol Aging
; 50: 5-12, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27837676
9.
Prevalence and predictors of subjective memory complaints in adult male carriers of the FMR1 premutation.
Clin Neuropsychol
; 30(6): 834-48, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27355815
10.
Erratum: Emerging topics in FXTAS.
J Neurodev Disord
; 7(1): 13, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25852777
11.
Emerging topics in FXTAS.
J Neurodev Disord
; 6(1): 31, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25642984
12.
Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife.
JAMA Neurol
; 74(5): 603-604, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28319232
13.
Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation.
Eur J Paediatr Neurol
; 14(5): 456-9, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20392657
14.
A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.
J Child Neurol
; 24(4): 503-8, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19339291
15.
Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation.
Epilepsia
; 49(2): 360-5, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18251839