Detalhe da pesquisa
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37867374
2.
Treatment of Lentigines: A Systematic Review.
Dermatol Surg
; 49(1): 17-24, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36533790
3.
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Ann Neurol
; 89(6): 1240-1247, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33704825
4.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain
; 143(11): 3242-3261, 2020 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33150406
5.
Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration.
Dev Med Child Neurol
; 63(12): 1402-1409, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34347296
6.
Barriers to healthcare access in pediatric dermatology: A systematic review.
Pediatr Dermatol
; 38 Suppl 2: 13-19, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34338358
7.
Ulcerated amelanotic melanoma of the ear in an 11 year old with Fitzpatrick VI skin type: A case report.
Pediatr Dermatol
; 38 Suppl 2: 106-109, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34390037
8.
Retention Rates Among Patients Undergoing Multimodal Facial Rejuvenation Treatment Versus a Single Monotherapy in Cosmetic Dermatology Practices.
Dermatol Surg
; 46(2): 240-246, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31453910
9.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-27817865
10.
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.
Am J Hum Genet
; 94(1): 11-22, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24360804
11.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-28456385
12.
Aesthetic Medicine in Older Patients: An Important Demographic Group.
Dermatol Surg
; 48(7): 795-796, 2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35438655
13.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-23176820
14.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-26547561
15.
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Nat Genet
; 38(7): 752-4, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16783378
16.
Interprofessional education as a method to address health needs in a Hispanic community setting: A pilot study.
J Interprof Care
; 29(5): 515-7, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25973668
17.
ß-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
Brain
; 136(Pt 6): 1708-17, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23687123
18.
Atypical Pain Developing Subsequent to Cryolipolysis for Noninvasive Reduction of Submental Fat.
Dermatol Surg
; 45(3): 487-489, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30640270
19.
Redesigning nurse practitioner clinical education with a Dyad/POD model: A feasibility study.
J Am Assoc Nurse Pract
; 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38564656
20.
Metabolism and energy requirements in pantothenate kinase-associated neurodegeneration.
Mol Genet Metab
; 110(3): 336-41, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23891537