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Scopus Author ID: 56449299700
Scopus Author ID: 55917829600
SciProfiles: 1520633

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Education and qualifications (7)

Universtitat de Barcelona: Barcelona, Barcelona, ES

2019-11-19 to present | Ph.D. candidate (Department of Surgery)
Education
Source: Self-asserted source
Mariana Matioli da Palma

Universidade Federal de São Paulo: São Paulo, São Paulo, BR

2019-01-01 to present | Ph.D. candidate (Department of Ophthalmology)
Education
Source: Self-asserted source
Mariana Matioli da Palma

Casey Eye Institute: Portland, Oregon, US

2019-12-30 to 2021-12-31 | Clinical Research Fellowship
Education
Source: Self-asserted source
Mariana Matioli da Palma

Universidade Federal de São Paulo: Sao Paulo, SP, BR

2017-02-01 to 2018-01-31 (Inherited Retinal Disease)
Education
Source: Self-asserted source
Mariana Matioli da Palma

Instituto Suel Abujamra: São Paulo, SP, BR

2013-02-04 to 2016-01-31 | Vitreo-retinal surgeon
Education
Source: Self-asserted source
Mariana Matioli da Palma

Instituto de Oftalmologia Tadeu Cvintal: Sao Paulo, SP, BR

2010-02-01 to 2013-01-31 | Ophthalmologist
Education
Source: Self-asserted source
Mariana Matioli da Palma

Universidade Federal de Juiz de Fora: Juiz de Fora, MG, BR

2003-08-01 to 2009-07-23 | Medical Doctor
Education
Source: Self-asserted source
Mariana Matioli da Palma

Works (19)

Expanding the phenotypic and genotypic spectrum of patients with HGSNAT -related retinopathy

Ophthalmic Genetics
2024-03-03 | Journal article
DOI: 10.1080/13816810.2023.2245035
Contributors: Mariana Matioli da Palma; Molly Marra; Austin D. Igelman; Cristy A. Ku; Amanda Burr; Katherine Andersen; Lesley A. Everett; Fernanda B. O. Porto; Juliana Maria Ferraz Sallum; Paul Yang et al.
Source: check_circle
Crossref

A Comprehensive Report of Intrinsically Disordered Regions in Inherited Retinal Diseases

Genes
2023-08-08 | Journal article
DOI: 10.3390/genes14081601
Contributors: Karen E. Lee; Jose S. Pulido; Mariana M. da Palma; Rebecca Procopio; Robert B. Hufnagel; Margaret Reynolds
Source: check_circle
Crossref
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Improved Rod Sensitivity as Assessed by Two-Color Dark-Adapted Perimetry in Patients With <i>RPE65</i>-Related Retinopathy Treated With Voretigene Neparvovec-rzyl

Translational Vision Science &amp; Technology
2023-04-14 | Journal article
DOI: 10.1167/tvst.12.4.17
Part of ISSN: 2164-2591
Contributors: Cristy A. Ku; Austin D. Igelman; Samuel J. Huang; Huber Vasconcelos; Mariana Matioli da Palma; Steven T. Bailey; Andreas K. Lauer; Richard G. Weleber; Paul Yang; Mark E. Pennesi
Source: Self-asserted source
Mariana Matioli da Palma

A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease

Ophthalmic Genetics
2023-03-04 | Journal article
DOI: 10.1080/13816810.2022.2098986
Contributors: Mariana Matioli da Palma; Cristy Ku; Austin D. Igelman; Amanda Burr; Liliya Shevchenko Sutherland; Celide Koerner; David Valle; Mark E. Pennesi; Paul Yang
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Crossref

Injection pressure levels for creating blebs during subretinal gene therapy

Gene Therapy
2022-11 | Journal article
DOI: 10.1038/s41434-021-00294-2
Contributors: Brittni A. Scruggs; Huber Martins Vasconcelos, Jr.; Mariana Matioli da Palma; Katie Kogachi; Mark E. Pennesi; Paul Yang; Steven T. Bailey; Andreas K. Lauer
Source: check_circle
Crossref

A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1

Ophthalmic Genetics
2022-11-02 | Journal article
DOI: 10.1080/13816810.2022.2154809
Contributors: Nathália Nishiyama Tondelli; Beatriz Mello Mencaroni; Carolina Maria Barbosa Lemos; Jefferson Rocha de Sousa; Gabriel Castilho Sandoval Barbosa; André Marcelo Vieira Gomes; Mariana Matioli da Palma
Source: check_circle
Crossref

A double hyperautofluorescent ring in a 33-year-old-female patient

RETINAL Cases &amp; Brief Reports
2022-09-02 | Journal article
DOI: 10.1097/icb.0000000000001337
Part of ISSN: 1935-1089
Contributors: Mariana Matioli da Palma; Mariana M. da Palma; Molly Marrra; Mark E. Pennesi
Source: Self-asserted source
Mariana Matioli da Palma
grade
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Three‐Year Safety Results of SAR422459 (EIAV‐ABCA4) Gene Therapy in Patients With ABCA4‐Associated Stargardt Disease: An Open‐Label Dose‐Escalation Phase I/IIa Clinical Trial, Cohorts 1‐5

American Journal of Ophthalmology
2022-08 | Journal article | Author
DOI: 10.1016/j.ajo.2022.02.013
Part of ISSN: 0002-9394
Contributors: Maria A. Parker; Laura R. Erker; Isabelle Audo; Dongseok Choi; Saddek Mohand-Said; Kastytis Sestakauskas; Patrick BENOIT; Terence Appelqvist; Melissa Krahmer; Caroline SEGAUT-PREVOST et al.
Source: Self-asserted source
Mariana Matioli da Palma

Effect of Pharmacological Pupil Dilation on Dark-Adapted Perimetric Sensitivity in Healthy Subjects Using an Octopus 900 Perimeter

Translational Vision Science &amp; Technology
2021-12-17 | Journal article
DOI: 10.1167/tvst.10.14.18
Part of ISSN: 2164-2591
Contributors: Mariana Matioli da Palma; Austin D. Igelman; Cristy Ku; Sam Mershon; Mariana Matioli da Palma; J. Jason McAnany; Robert A. Hyde; Jason C. Park; Paul Yang; Mark E. Pennesi
Source: Self-asserted source
Mariana Matioli da Palma

Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome

Ophthalmic Genetics
2021-11-02 | Journal article
DOI: 10.1080/13816810.2021.1946704
Contributors: Austin D. Igelman; Cristy Ku; Mariana Matioli da Palma; Michalis Georgiou; Elena R. Schiff; Byron L. Lam; Eeva-Marja Sankila; Jeeyun Ahn; Lindsey Pyers; Ajoy Vincent et al.
Source: check_circle
Crossref

Variable expressivity ofBEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree

BMJ Open Ophthalmology
2021-10 | Journal article
DOI: 10.1136/bmjophth-2021-000813
Contributors: Mariana Matioli da Palma; Maurício E Vargas; Amanda Burr; Rui Chen; Mark E Pennesi; Richard G Weleber; Paul Yang
Source: check_circle
Crossref

Rare disease day and Ophthalmology.

Arquivos brasileiros de oftalmologia
2021-07-01 | Journal article
DOI: 10.5935/0004-2749.202100106
PMID: 34287519
Source: Self-asserted source
Mariana Matioli da Palma

Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.

Investigative ophthalmology & visual science
2021-06-01 | Journal article
DOI: 10.1167/iovs.62.7.27
PMID: 34185059
PMC: PMC8254011
Source: Self-asserted source
Mariana Matioli da Palma

Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy

Genes
2021-05-10 | Journal article
DOI: 10.3390/genes12050713
Contributors: Mariana Matioli da Palma; Fabiana Louise Motta; Mariana Vallim Salles; Caio Henrique Marques Texeira; André V. Gomes; Ricardo Casaroli-Marano; Juliana Maria Ferraz Sallum
Source: check_circle
Crossref
grade
Preferred source (of 2)‎

PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women

Neurology Genetics
2021-04 | Journal article
DOI: 10.1212/nxg.0000000000000563
Part of ISSN: 2376-7839
Source: Self-asserted source
Mariana Matioli da Palma

Synonymous variant in the CHM gene causes aberrant splicing in choroideremia

Investigative Ophthalmology and Visual Science
2020 | Journal article
DOI: 10.1167/iovs.61.2.38
EID:

2-s2.0-85083546454

Part of ISBN:

15525783 01460404
Contributors: da Palma, M.M.; Motta, F.L.; Gomes, C.P.; Salles, M.V.; Pesquero, J.B.; Sallum, J.M.F.
Source: Self-asserted source
Mariana Matioli da Palma via Scopus - Elsevier

TUBGCP4 – associated microcephaly and chorioretinopathy

Ophthalmic Genetics
2020-03-03 | Journal article
DOI: 10.1080/13816810.2020.1747084
Contributors: Mariana Matioli Da Palma; Fabiana Louise Motta; Guilherme Eiichi Da Silva Takitani; Mariana Vallim Salles; Luiz Henrique Lima; Juliana Maria Ferraz Sallum
Source: check_circle
Crossref
grade
Preferred source (of 2)‎

Retinal dystrophies and variants in PRPH2

Arquivos Brasileiros de Oftalmologia
2019 | Journal article
DOI: 10.5935/0004-2749.20190033
EID:

2-s2.0-85061119304

Part of ISBN:

16782925 00042749
Contributors: da Palma, M.M.; Martin, D.; Salles, M.V.; Teixeira Motta, F.L.; Abujamra, S.; Sallum, J.M.F.
Source: Self-asserted source
Mariana Matioli da Palma via Scopus - Elsevier

Preclinical Investigations of Intravitreal Ziv-Aflibercept

Ophthalmic Surgery, Lasers and Imaging Retina
2014-11 | Journal article
DOI: 10.3928/23258160-20141118-15
Part of ISSN: 2325-8160
Part of ISSN: 2325-8179
Source: Self-asserted source
Mariana Matioli da Palma
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