Search details
1.
Femur Fractures in 5 Individuals With Pantothenate Kinase-associated Neurodegeneration: The Role of Dystonia and Suggested Management.
J Pediatr Orthop
; 44(1): e61-e68, 2024 Jan 01.
Article
in English
| MEDLINE | ID: mdl-37867374
2.
Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration.
Dev Med Child Neurol
; 63(12): 1402-1409, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34347296
3.
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
Am J Hum Genet
; 99(6): 1229-1244, 2016 Dec 01.
Article
in English
| MEDLINE | ID: mdl-27817865
4.
Cerebrospinal fluid, plasma, and saliva in the BioFIND study: Relationships among biomarkers and Parkinson's disease Features.
Mov Disord
; 33(2): 282-288, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29205509
5.
Changes in Red Blood Cell membrane lipid composition: A new perspective into the pathogenesis of PKAN.
Mol Genet Metab
; 121(2): 180-189, 2017 06.
Article
in English
| MEDLINE | ID: mdl-28456385
6.
The BioFIND study: Characteristics of a clinically typical Parkinson's disease biomarker cohort.
Mov Disord
; 31(6): 924-32, 2016 06.
Article
in English
| MEDLINE | ID: mdl-27113479
7.
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
Am J Hum Genet
; 91(6): 1144-9, 2012 Dec 07.
Article
in English
| MEDLINE | ID: mdl-23176820
8.
Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus.
Mol Genet Metab
; 116(4): 289-97, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26547561
9.
The effect of deep brain stimulation randomized by site on balance in Parkinson's disease.
Mov Disord
; 29(7): 949-53, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-24532106
10.
ß-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
Brain
; 136(Pt 6): 1708-17, 2013 Jun.
Article
in English
| MEDLINE | ID: mdl-23687123
11.
Pallidal versus subthalamic deep-brain stimulation for Parkinson's disease.
N Engl J Med
; 362(22): 2077-91, 2010 Jun 03.
Article
in English
| MEDLINE | ID: mdl-20519680
12.
Metabolism and energy requirements in pantothenate kinase-associated neurodegeneration.
Mol Genet Metab
; 110(3): 336-41, 2013 Nov.
Article
in English
| MEDLINE | ID: mdl-23891537
13.
Abnormal Brain Iron Accumulation is a Rare Finding in Down Syndrome Regression Disorder.
Pediatr Neurol
; 138: 1-4, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36270151
14.
Cardiac glycosides restore autophagy flux in an iPSC-derived neuronal model of WDR45 deficiency.
bioRxiv
; 2023 Sep 13.
Article
in English
| MEDLINE | ID: mdl-37745522
15.
A blood-based marker of mitochondrial DNA damage in Parkinson's disease.
Sci Transl Med
; 15(711): eabo1557, 2023 08 30.
Article
in English
| MEDLINE | ID: mdl-37647388
16.
Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN).
Mol Genet Metab
; 120(3): 278-287, 2017 03.
Article
in English
| MEDLINE | ID: mdl-28034613
17.
Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation.
Tremor Other Hyperkinet Mov (N Y)
; 11: 51, 2021.
Article
in English
| MEDLINE | ID: mdl-34909266
18.
Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation.
Front Neurol
; 11: 1024, 2020.
Article
in English
| MEDLINE | ID: mdl-33013674
19.
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
Brain Commun
; 2(2): fcaa178, 2020.
Article
in English
| MEDLINE | ID: mdl-33629063
20.
Bilateral deep brain stimulation vs best medical therapy for patients with advanced Parkinson disease: a randomized controlled trial.
JAMA
; 301(1): 63-73, 2009 Jan 07.
Article
in English
| MEDLINE | ID: mdl-19126811