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1.
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Am J Hum Genet
; 108(9): 1669-1691, 2021 09 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34314705
2.
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Mov Disord
; 37(11): 2197-2209, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-36054588
3.
Efficacy of Caffeine in ADCY5-Related Dyskinesia: A Retrospective Study.
Mov Disord
; 37(6): 1294-1298, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35384065
4.
Emerging evidence of Toll-like receptors as a putative pathway linking maternal inflammation and neurodevelopmental disorders in human offspring: A systematic review.
Brain Behav Immun
; 99: 91-105, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34562595
5.
Cerebrospinal fluid neopterin as a biomarker of treatment response to Janus kinase inhibition in Aicardi-Goutières syndrome.
Dev Med Child Neurol
; 64(2): 266-271, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34415581
6.
Rapid onset functional tic-like behaviours in children and adolescents during COVID-19: Clinical features, assessment and biopsychosocial treatment approach.
J Paediatr Child Health
; 58(7): 1181-1187, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35247213
7.
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Genet Med
; 23(2): 363-373, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33144681
8.
Maternal autoimmunity and inflammation are associated with childhood tics and obsessive-compulsive disorder: Transcriptomic data show common enriched innate immune pathways.
Brain Behav Immun
; 94: 308-317, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33422639
9.
Clinical and neuroimaging phenotypes of genetic parkinsonism from infancy to adolescence.
Brain
; 143(3): 751-770, 2020 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31800013
10.
Current therapies and therapeutic decision making for childhood-onset movement disorders.
Mov Disord
; 34(5): 637-656, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30919519
11.
Sensory dysregulation in tic disorders is associated with executive dysfunction and comorbidities.
Mov Disord
; 34(12): 1901-1909, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31505086
12.
Maternal thyroid autoimmunity associated with acute-onset neuropsychiatric disorders and global regression in offspring.
Dev Med Child Neurol
; 61(8): 984-988, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30720202
13.
Magnetic resonance imaging in enterovirus-71, myelin oligodendrocyte glycoprotein antibody, aquaporin-4 antibody, and multiple sclerosis-associated myelitis in children.
Dev Med Child Neurol
; 61(9): 1108-1116, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30537075
14.
Blood CRP levels are elevated in children and adolescents with functional neurological symptom disorder.
Eur Child Adolesc Psychiatry
; 28(4): 491-504, 2019 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-30143887
15.
BCAS3-Related Neurodevelopmental Disorder Shows Magnetic Resonance Imaging Features Resembling Brain Iron Accumulation.
Mov Disord
; 37(4): 870-872, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34981858
16.
The neuropsychological profile of children with basal ganglia encephalitis: a case series.
Dev Med Child Neurol
; 59(4): 445-448, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-27991656
17.
Cerebrospinal fluid cyto-/chemokine profile during acute herpes simplex virus induced anti-N-methyl-d-aspartate receptor encephalitis and in chronic neurological sequelae.
Dev Med Child Neurol
; 59(8): 806-814, 2017 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-28439892
18.
Anti-N-methyl-d-aspartate receptor encephalitis in Maori and Pacific Island children in New Zealand.
Dev Med Child Neurol
; 59(7): 719-724, 2017 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-28328164
19.
High sensitivity and specificity in proposed clinical diagnostic criteria for anti-N-methyl-D-aspartate receptor encephalitis.
Dev Med Child Neurol
; 59(12): 1256-1260, 2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-28972277
20.
Herpes simplex virus-induced anti-N-methyl-d-aspartate receptor encephalitis: a systematic literature review with analysis of 43 cases.
Dev Med Child Neurol
; 59(8): 796-805, 2017 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-28439890