Detalhe da pesquisa
1.
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
J Med Genet
; 60(10): 1026-1034, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37197783
2.
A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.
Neurogenetics
; 23(4): 271-274, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35920923
3.
Spontaneous Multilevel Cerebrospinal Fluid Leak in Marfan Syndrome.
Ann Neurol
; 88(4): 855-856, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32613612
4.
Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease.
Pediatr Neurol
; 148: 133-137, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37713976
5.
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Pediatr Neurol
; 141: 79-86, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36791574
6.
NTRK1-related Hereditary Sensory and Autonomic Neuropathy Type 4: The Role of the Histamine Challenge Test.
Child Neurol Open
; 9: 2329048X221108826, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35756968
7.
A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report.
Child Neurol Open
; 8: 2329048X211027438, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34368388
8.
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
J Clin Endocrinol Metab
; 106(2): e660-e674, 2021 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33005949
9.
Teaching NeuroImage: Low-Frequency Photoparoxysmal Response in a Patient With Neuronal Ceroid Lipofuscinosis Type 2.
Neurology
; 101(4): e459-e460, 2023 07 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37068956
10.
Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.
Pediatr Neurol
; 84: 21-26, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29859719