Search details
1.
Recent advances in neurometabolic diseases: The genetic role in the modern era.
Epilepsy Behav
; 145: 109338, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37453291
2.
Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening.
Mol Genet Metab
; 129(3): 213-218, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31864849
3.
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.
J Inherit Metab Dis
; 40(3): 403-414, 2017 05.
Article
in English
| MEDLINE | ID: mdl-28303425
4.
Rationale for dopa-responsive CTNNB1/ß-catenin deficient dystonia.
Mov Disord
; 33(4): 656-657, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29436745
5.
Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.
J Inherit Metab Dis
; 41(1): 151, 2018 01.
Article
in English
| MEDLINE | ID: mdl-28980269
6.
The mdx mouse as a model for carnitine deficiency in the pathogenesis of Duchenne muscular dystrophy.
Muscle Nerve
; 46(5): 767-72, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-23055315
7.
Reversal of Stroke-Like Episodes With L-Arginine and Meticulous Perioperative Management of Renal Transplantation in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome. Case Report.
Neurohospitalist
; 12(1): 67-73, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-34950389
8.
Upregulation of mammary gland OCTNs maintains carnitine homeostasis in suckling infants.
Biochem Biophys Res Commun
; 404(4): 1010-5, 2011 Jan 28.
Article
in English
| MEDLINE | ID: mdl-21187065
9.
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Mol Genet Metab
; 104(1-2): 48-60, 2011.
Article
in English
| MEDLINE | ID: mdl-21704546
10.
Cystic fibrosis transmembrane conductance regulator in human muscle: Dysfunction causes abnormal metabolic recovery in exercise.
Ann Neurol
; 67(6): 802-8, 2010 Jun.
Article
in English
| MEDLINE | ID: mdl-20517942
11.
Skeletal muscle metabolism in cystic fibrosis and primary ciliary dyskinesia.
Pediatr Res
; 69(1): 40-5, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-20938370
12.
Mitochondrial diseases: need for international collaborations?
Dev Med Child Neurol
; 58(5): 425, 2016 05.
Article
in English
| MEDLINE | ID: mdl-27103187
13.
The Effect of Creatine Supplementation on Muscle Function in Childhood Myositis: A Randomized, Double-blind, Placebo-controlled Feasibility Study.
J Rheumatol
; 48(3): 434-441, 2021 03.
Article
in English
| MEDLINE | ID: mdl-32739897
14.
Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria.
J Inherit Metab Dis
; 33(3): 211-22, 2010 Jun.
Article
in English
| MEDLINE | ID: mdl-20443061
15.
Impact of fatty acid oxidation disorders in child neurology: from Reye syndrome to Pandora's box.
Dev Med Child Neurol
; 57(4): 304-6, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25761966
16.
Expression of the organic cation/carnitine transporter family (Octn1,-2 and-3) in mdx muscle and heart: Implications for early carnitine therapy in Duchenne muscular dystrophy to improve cellular carnitine homeostasis.
Clin Chim Acta
; 505: 92-97, 2020 Jun.
Article
in English
| MEDLINE | ID: mdl-32070725
17.
L-arginine effects on cerebrovascular reactivity, perfusion and neurovascular coupling in MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) syndrome.
PLoS One
; 15(9): e0238224, 2020.
Article
in English
| MEDLINE | ID: mdl-32881886
18.
Bioenergetic provision of energy for muscular activity.
Paediatr Respir Rev
; 10(3): 83-90, 2009 Sep.
Article
in English
| MEDLINE | ID: mdl-19651377
19.
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.
Hum Genet
; 124(1): 43-56, 2008 Aug.
Article
in English
| MEDLINE | ID: mdl-18523805
20.
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
Mol Genet Metab
; 94(4): 422-427, 2008 Aug.
Article
in English
| MEDLINE | ID: mdl-18550408