Detalhe da pesquisa
1.
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.
Am J Hum Genet
; 109(12): 2253-2269, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36413998
2.
Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study.
Mov Disord
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38725190
3.
Developmental coordination disorder subtypes in children: An unsupervised clustering.
Dev Med Child Neurol
; 65(10): 1332-1342, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36883642
4.
GM3 synthase deficiency in non-Amish patients.
Genet Med
; 24(2): 492-498, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906476
5.
Efficacy of Caffeine in ADCY5-Related Dyskinesia: A Retrospective Study.
Mov Disord
; 37(6): 1294-1298, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35384065
6.
Opsoclonus-myoclonus in Aicardi-Goutières syndrome.
Dev Med Child Neurol
; 63(12): 1483-1486, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34155623
7.
Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.
Clin Genet
; 98(3): 251-260, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32557569
8.
A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.
Ann Neurol
; 82(1): 133-138, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28556183
9.
Oxygen Therapy: An Acute Treatment for Paroxysmal Dystonia in Alternating Hemiplegia of Childhood?
Mov Disord
; 38(5): 906-907, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36794704
10.
Effect of Oxygen Administration on Paroxysmal Motor Events in Alternating Hemiplegia of Childhood.
Mov Disord
; 38(9): 1759-1761, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37466145
11.
Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.
J Neurol Neurosurg Psychiatry
; 87(5): 550-3, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26536893
12.
Use of modified Atkins diet in glucose transporter type 1 deficiency syndrome.
Dev Med Child Neurol
; 58(11): 1193-1199, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27273526
13.
Transition from ketogenic diet to triheptanoin in patients with GLUT1 deficiency syndrome.
J Neurol Neurosurg Psychiatry
; 91(4): 444-445, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31694879
14.
Caffeine and the Dyskinesia Related to Mutations in the ADCY5 Gene.
Ann Intern Med
; 171(6): 439, 2019 09 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31181574
15.
Long-term follow-up in an open-label trial of triheptanoin in GLUT1 deficiency syndrome: a sustained dramatic effect.
J Neurol Neurosurg Psychiatry
; 90(11): 1291-1293, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30948626
16.
Non-Motor Symptoms and Quality of Life in Patients with PRRT2-Related Paroxysmal Kinesigenic Dyskinesia.
Mov Disord Clin Pract
; 10(7): 1082-1089, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37476308
17.
Intraputaminal Gene Delivery in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency.
Mov Disord Clin Pract
; 10(5): 811-818, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37205256
18.
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Neurology
; 100(23): e2360-e2373, 2023 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37076312
19.
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.
J Neurol Neurosurg Psychiatry
; 83(10): 956-62, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22832740
20.
Cerebellum Dysfunction in Patients With PRRT2-Related Paroxysmal Dyskinesia.
Neurology
; 98(10): e1077-e1089, 2022 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35058336