Detalhe da pesquisa
1.
The Circadian Protein BMAL1 Regulates Translation in Response to S6K1-Mediated Phosphorylation.
Cell
; 161(5): 1138-1151, 2015 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25981667
2.
Abnormal mTOR Activation in Autism.
Annu Rev Neurosci
; 41: 1-23, 2018 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29490194
3.
De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations.
Hum Mol Genet
; 32(1): 93-103, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35925862
4.
ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations.
Neurobiol Dis
; 190: 106386, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38110041
5.
Recommendations for the Management of Initial and Refractory Pediatric Status Dystonicus.
Mov Disord
; 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38619077
6.
Emerging therapies for childhood-onset movement disorders.
Curr Opin Pediatr
; 36(3): 331-341, 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38655812
7.
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Brain
; 146(5): 2003-2015, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36315648
8.
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Genet Med
; 25(7): 100839, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37057675
9.
Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder.
Clin Genet
; 103(5): 566-573, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36453471
10.
Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia.
Mov Disord
; 38(9): 1742-1750, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37482941
11.
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.
Hum Mol Genet
; 29(2): 320-334, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31915823
12.
Childhood-onset hereditary spastic paraplegia and its treatable mimics.
Mol Genet Metab
; 137(4): 436-444, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34183250
13.
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Mov Disord
; 37(12): 2440-2446, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36103453
14.
Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update.
Mov Disord
; 37(5): 905-935, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35481685
15.
Upper motor neuron signs and early onset gait abnormalities in young children with bi-allelic VWA1 variants.
Am J Med Genet A
; 188(12): 3531-3534, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35975723
16.
Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis.
Am J Med Genet A
; 188(9): 2590-2598, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35775650
17.
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Hum Mutat
; 42(6): 762-776, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33847017
18.
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Brain
; 143(10): 2929-2944, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32979048
19.
Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy.
J Inherit Metab Dis
; 43(1): 51-62, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30854657
20.
Movement Disorders in Treatable Inborn Errors of Metabolism.
Mov Disord
; 34(5): 598-613, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30557456