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A Case of YY1‐Related Isolated Dystonia with Severe Oromandibular Involvement

Movement disorders, 2021-11, Vol.36 (11), p.2705-2706

2021

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Hemophagocytic lymphohistiocytosis in an adolescent with NLRP12 ‐related autoinflammatory disorder—A case report

Pediatric allergy and immunology, 2023-09, Vol.34 (9)

2023

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MYORG gene disease‐causing variants in a family with primary familial brain calcification presenting with stroke‐like episodes

Clinical genetics, 2020-11, Vol.98 (5), p.517-519

2020

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Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto–Shinawi syndrome

American journal of medical genetics. Part A, 2022-04, Vol.188 (4), p.1311-1316

2022

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Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases

Frontiers in immunology, 2022-05, Vol.13, p.869728

2022

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Imaging in FIG 4— Related Parkinsonism

Movement disorders clinical practice (Hoboken, N.J.), 2023-10, Vol.10 (10), p.1566-1567

2023

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Case Report: Patient with deficiency of ADA2 presenting leukocytoclastic vasculitis and pericarditis during infliximab treatment

Frontiers in pediatrics, 2023-06, Vol.11, p.1200401

2023

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X-linked hypophosphatemic rickets: a new mutation

Jornal Brasileiro de nefrologia, 2021-01, Vol.43 (2), p.279-282

2021

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Acute onset of adult Alexander disease and the concept of GFAP toxicity

Journal of the neurological sciences, 2023-10, Vol.453, p.120800, Article 120800

2023

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Lissencephaly With Cerebellar Hypoplasia Due To a New RELN Mutation

Pediatric neurology, 2023-12, Vol.149, p.137-140

2023

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Hereditary angioedema with normal C1-inhibitor: Clinical and genetic characterization of 15 Portuguese unrelated families

Annals of allergy, asthma, & immunology, 2024-06, Vol.132 (6), p.730

2024

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Familial Occipital Lobe Epilepsy associated with GABAA receptor variants

Seizure (London, England), 2023-11, Vol.112, p.139-142

2023

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TANGO2 Deficiency Disorder: Two Cases of Developmental Delay Preceding Metabolic Crisis

Pediatric neurology, 2023-10, Vol.147, p.52-55

2023

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Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30

Neurogenetics, 2023-07, Vol.24 (3), p.215-218

2023

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Diagnosis across a cohort of “atypical” atypical and complex parkinsonism

Parkinsonism & related disorders, 2023-06, Vol.111, p.105408-105408, Article 105408

2023

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Parkinsonism and iron deposition in two adult patients with L-2-hydroxiglutaric aciduria

Parkinsonism & related disorders, 2021-05, Vol.86, p.45-47

2021

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Correction to: Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1

Neurological sciences, 2021-02, Vol.42 (2), p.771-771

2021

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Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1

Neurological sciences, 2021-02, Vol.42 (2), p.749-753

2021

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eP169: A case report of Ververi-Brady syndrome: Expanding the genotype and phenotype

Genetics in medicine, 2022-03, Vol.24 (3), p.S102-S103

2022

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Hereditary angioedema with normal C1-inhibitor

Annals of allergy, asthma, & immunology, 2024-06, Vol.132 (6), p.730-736

2024

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X-linked hypophosphatemic rickets: a new mutation

Brazilian Journal of Nephrology, 2021-06, Vol.43 (2), p.279-282

2021

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X-linked hypophosphatemic rickets: a new mutation

Brazilian Journal of Nephrology, 2021-04

2021

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Acute onset of adult Alexander disease and the concept of GFAP toxicity

Journal of the neurological sciences, 2023, Vol.453, p.120800-120800

2023

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Case Report: Patient with deficiency of ADA2 presenting leukocytoclastic vasculitis and pericarditis during infliximab treatment

Frontiers in pediatrics, 2023, Vol.11, p.1200401-1200401

2023

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Emergência Médica na Rua - Depressa e Bem

Freixo, João Nuno Parente

2012

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A Case of YY1‐Related Isolated Dystonia with Severe Oromandibular Involvement

Hemophagocytic lymphohistiocytosis in an adolescent with NLRP12 ‐related autoinflammatory disorder—A case report

MYORG gene disease‐causing variants in a family with primary familial brain calcification presenting with stroke‐like episodes

Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto–Shinawi syndrome

Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases

Imaging in FIG 4— Related Parkinsonism

Case Report: Patient with deficiency of ADA2 presenting leukocytoclastic vasculitis and pericarditis during infliximab treatment

X-linked hypophosphatemic rickets: a new mutation

Acute onset of adult Alexander disease and the concept of GFAP toxicity

Lissencephaly With Cerebellar Hypoplasia Due To a New RELN Mutation

Hereditary angioedema with normal C1-inhibitor: Clinical and genetic characterization of 15 Portuguese unrelated families

Familial Occipital Lobe Epilepsy associated with GABAA receptor variants

TANGO2 Deficiency Disorder: Two Cases of Developmental Delay Preceding Metabolic Crisis

Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30

Diagnosis across a cohort of “atypical” atypical and complex parkinsonism

Parkinsonism and iron deposition in two adult patients with L-2-hydroxiglutaric aciduria

Correction to: Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1

Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1

eP169: A case report of Ververi-Brady syndrome: Expanding the genotype and phenotype

Hereditary angioedema with normal C1-inhibitor

X-linked hypophosphatemic rickets: a new mutation

X-linked hypophosphatemic rickets: a new mutation

Acute onset of adult Alexander disease and the concept of GFAP toxicity

Case Report: Patient with deficiency of ADA2 presenting leukocytoclastic vasculitis and pericarditis during infliximab treatment

Emergência Médica na Rua - Depressa e Bem

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