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1.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Am J Hum Genet
; 109(9): 1692-1712, 2022 09 01.
Article
in English
| MEDLINE | ID: mdl-36055214
2.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet
; 107(2): 311-324, 2020 08 06.
Article
in English
| MEDLINE | ID: mdl-32738225
3.
HLA-DRB1*1501 influences long-term disability progression and tissue damage on MRI in relapse-onset multiple sclerosis.
Mult Scler
; 29(3): 333-342, 2023 Mar.
Article
in English
| MEDLINE | ID: mdl-36398585
4.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Am J Hum Genet
; 103(3): 431-439, 2018 09 06.
Article
in English
| MEDLINE | ID: mdl-30100084
5.
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
Mol Biol Rep
; 48(3): 2093-2104, 2021 Mar.
Article
in English
| MEDLINE | ID: mdl-33742325
6.
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
Hum Genet
; 138(11-12): 1313-1322, 2019 Dec.
Article
in English
| MEDLINE | ID: mdl-31673819
7.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Am J Hum Genet
; 108(12): 2385, 2021 Dec 02.
Article
in English
| MEDLINE | ID: mdl-34861176
8.
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.
Hum Mutat
; 39(2): 187-192, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29127725
9.
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
Ann Neurol
; 81(4): 597-603, 2017 04.
Article
in English
| MEDLINE | ID: mdl-28253535
10.
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.
Mov Disord
; 33(3): 482-488, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29392776
11.
Adaptive regulation of riboflavin transport in heart: effect of dietary riboflavin deficiency in cardiovascular pathogenesis.
Mol Cell Biochem
; 440(1-2): 147-156, 2018 Mar.
Article
in English
| MEDLINE | ID: mdl-28836047
12.
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
Brain
; 140(11): 2820-2837, 2017 11 01.
Article
in English
| MEDLINE | ID: mdl-29053833
13.
A Review of Copy Number Variants in Inherited Neuropathies.
Curr Genomics
; 19(6): 412-419, 2018 Sep.
Article
in English
| MEDLINE | ID: mdl-30258273
14.
SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.
Neurogenetics
; 18(1): 63-67, 2017 01.
Article
in English
| MEDLINE | ID: mdl-28005197
15.
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Brain
; 139(Pt 7): 1904-18, 2016 07.
Article
in English
| MEDLINE | ID: mdl-27217339
16.
A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia.
Neurogenetics
; 17(4): 245-249, 2016 10.
Article
in English
| MEDLINE | ID: mdl-27271339
17.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Am J Hum Genet
; 103(5): 826, 2018 11 01.
Article
in English
| MEDLINE | ID: mdl-30388405
18.
Next-generation sequencing in neuromuscular diseases.
Curr Opin Neurol
; 29(5): 527-36, 2016 10.
Article
in English
| MEDLINE | ID: mdl-27588584
19.
Resonance Raman Spectra of Five-Coordinate Heme-Nitrosyl Cytochromes c': Effect of the Proximal Heme-NO Environment.
Biochemistry
; 54(21): 3320-7, 2015 Jun 02.
Article
in English
| MEDLINE | ID: mdl-25961377
20.
Conformational control of the binding of diatomic gases to cytochrome c'.
J Biol Inorg Chem
; 20(4): 675-86, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25792378