Search details
1.
Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).
Mol Genet Metab
; 142(1): 108346, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38368708
2.
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.
Mol Genet Metab
; 142(1): 108453, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38522179
3.
BTK inhibition limits B-cell-T-cell interaction through modulation of B-cell metabolism: implications for multiple sclerosis therapy.
Acta Neuropathol
; 143(4): 505-521, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35303161
4.
Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines.
Curr Opin Pediatr
; 32(6): 707-718, 2020 12.
Article
in English
| MEDLINE | ID: mdl-33105273
5.
Advances in primary mitochondrial myopathies.
Curr Opin Neurol
; 32(5): 715-721, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31408013
6.
A novel complex neurological phenotype due to a homozygous mutation in FDX2.
Brain
; 141(8): 2289-2298, 2018 08 01.
Article
in English
| MEDLINE | ID: mdl-30010796
7.
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
J Neurol Neurosurg Psychiatry
; 94(5): 405-408, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36737246
8.
Anthropometric and biochemical profile of children and adolescents with chronic kidney disease in a predialysis pediatric interdisciplinary program.
ScientificWorldJournal
; 2015: 810758, 2015.
Article
in English
| MEDLINE | ID: mdl-25629088
9.
Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome.
J Child Neurol
; : 8830738241241786, 2024 Mar 27.
Article
in English
| MEDLINE | ID: mdl-38532733
10.
Oxidative phosphorylation regulates B cell effector cytokines and promotes inflammation in multiple sclerosis.
Sci Immunol
; 9(95): eadk0865, 2024 May 03.
Article
in English
| MEDLINE | ID: mdl-38701189
11.
A 47-Year-Old Man Presenting With Seizures and Prior Stroke.
Neurohospitalist
; 13(1): 74-77, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36531844
12.
Pearls & Oy-sters: Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency.
Neurology
; 101(1): 46-49, 2023 07 04.
Article
in English
| MEDLINE | ID: mdl-36805432
13.
Multiple Independent Gene Disorders Causing Bardet-Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient.
Brain Sci
; 13(8)2023 Aug 16.
Article
in English
| MEDLINE | ID: mdl-37626566
14.
Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi-Goutières Syndrome Phenotype.
Brain Sci
; 13(8)2023 Aug 05.
Article
in English
| MEDLINE | ID: mdl-37626525
15.
Exploration of Gross Motor Function in Aicardi-Goutières Syndrome.
J Child Neurol
; 38(8-9): 518-527, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37499181
16.
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sci Adv
; 9(10): eade1463, 2023 03 10.
Article
in English
| MEDLINE | ID: mdl-36897941
17.
Melatonin Therapy Improves Cardiac Autonomic Modulation in Pinealectomized Patients.
Front Endocrinol (Lausanne)
; 11: 239, 2020.
Article
in English
| MEDLINE | ID: mdl-32431667
18.
19.
Mitochondrial Dysfunction and Multiple Sclerosis.
Biology (Basel)
; 8(2)2019 May 11.
Article
in English
| MEDLINE | ID: mdl-31083577
20.
Melatonin Increases Brown Adipose Tissue Volume and Activity in Patients With Melatonin Deficiency: A Proof-of-Concept Study.
Diabetes
; 68(5): 947-952, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30765337