Detalhe da pesquisa
1.
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry
; 95(3): 201-205, 2024 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38041684
2.
Cerebrospinal fluid characteristics of patients treated with intrathecal nusinersen for spinal muscular atrophy.
Muscle Nerve
; 66(6): 762-766, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214191
3.
Variable Genotype-Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene.
Neuropediatrics
; 52(6): 475-479, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33578445
4.
Outpatient Management of Headache after Pediatric Emergency Department Visit: Are we Missing Anything?
Headache
; 59(9): 1530-1536, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31348526
5.
Are We Over-Treating Insect Bite Related Periorbital Cellulitis in Children? The Experience of a Large, Tertiary Care Pediatric Hospital.
Am J Ther
; 26(1): e1-e4, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-28452841
6.
The safety, tolerability, and effectiveness of PTL-101, an oral cannabidiol formulation, in pediatric intractable epilepsy: A phase II, open-label, single-center study.
Epilepsy Behav
; 98(Pt A): 233-237, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31394352
7.
Acute disseminated encephalomyelitis in children - clinical and MRI decision making in the emergency department.
Am J Emerg Med
; 37(11): 2004-2007, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30846211
8.
Is There a Role for Placental Cultures in Cases of Clinical Chorioamnionitis Complicating Preterm Premature Rupture of Membranes?
Am J Perinatol
; 34(9): 867-873, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28273674
9.
Interleukin-12p40 in the spinal fluid as a biomarker for clinically isolated syndrome.
Mult Scler
; 20(1): 35-42, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23722323
10.
Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation.
medRxiv
; 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585796
11.
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
Sci Transl Med
; 16(741): eadg2841, 2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38569017
12.
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
medRxiv
; 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585825
13.
Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes.
medRxiv
; 2023 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196629
14.
The Clinical Utility of Inpatient Brain Magnetic Resonance Imaging in Children.
J Child Neurol
; 35(11): 744-752, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32517554
15.
Maternal and neonatal hyponatremia during labor: a case series.
J Matern Fetal Neonatal Med
; 32(16): 2711-2715, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29526150
16.
Increased Intracranial Pressure in Acute Disseminated Encephalomyelitis.
J Child Neurol
; 34(2): 99-103, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30477374
17.
The Effect of Deep Freezing on Human Milk Macronutrients Content.
Breastfeed Med
; 14(3): 172-176, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30707603
18.
Pulmonary hemorrhage due to Coxsackievirus B infection-A call to raise suspicion of this important complication as an end-stage of enterovirus sepsis in preterm twin neonates.
J Clin Virol
; 82: 41-45, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27434146
19.
Comparison of disease activity in SPMS and PPMS in the context of multicenter clinical trials.
PLoS One
; 7(10): e45409, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23049678