A Case of YY1‐Related Isolated Dystonia with Severe Oromandibular Involvement von Malaquias, Maria João, Damásio, Joana, Mendes, Alexandre, Freixo, João Parente, Magalhães, Marina

Volltext

Hemophagocytic lymphohistiocytosis in an adolescent with NLRP12 ‐related autoinflammatory disorder—A case report von Hormigo, Inês, Valente Pinto, Marta, Cordeiro, Ana Isabel, Henriques, Cristina, Martins, Catarina, Parente Freixo, João, Conde, Marta, Gouveia, Catarina, Farela Neves, João

Volltext

MYORG gene disease‐causing variants in a family with primary familial brain calcification presenting with stroke‐like episodes von Malaquias, Maria João, Martins, Ricardo Cruz, Oliveira, Jorge, Freixo, João Parente, Magalhães, Marina

Volltext

Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto–Shinawi syndrome von Quental, Rita, Gonçalves, Daniel, Rodrigues, Esmeralda, Serrano Gonçalves, Edite, Oliveira, Jorge, Parente Freixo, João, Leão, Miguel

Volltext

A novel disease-causing variant associated with a milder phenotype of AARS2-related leukodystrophy — A case report von Fernandes, Joana, Moura, João, Tarrio, João, Oliveira, Jorge, Lopes, Ana, Freixo, João Parente, Videira, Gonçalo

Volltext

Imaging in FIG 4- Related Parkinsonism von Silva, Lénia, Freixo, João Parente, Brandão, Ana Filipa, Cardoso, Márcio, Damásio, Joana

Volltext

Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases von Castro, Ana Costa E, Maia, Raquel, Batalha, Sara, Freixo, João Parente, Martins, Catarina, Neves, Conceição, Cordeiro, Ana Isabel, Neves, João Farela

Volltext

Clinical Role of Codon 87 of the CYFIP2 Gene in Early Infantile Epileptic Encephalopathy: A Clinical Case Description von Da Silva Cardoso, Juliana, Gomes, Rita, Abreu, Maria, Parente Freixo, João, Falcão Reis, Cáudia, Garrido, Cristina

Volltext

Case Report: Patient with deficiency of ADA2 presenting leukocytoclastic vasculitis and pericarditis during infliximab treatment von Simão Raimundo, Diana, Cordeiro, Ana Isabel, Parente Freixo, João, Valente Pinto, Marta, Neves, Conceição, Farela Neves, João

Volltext

Acute onset of adult Alexander disease and the concept of GFAP toxicity von Godinho, Filipe, Guerreiro, Carolina, Parente Freixo, João, Oliveira, Jorge, Lourenço Rosa, José

Volltext

Lissencephaly With Cerebellar Hypoplasia Due To a New RELN Mutation von Igreja, Liliana, Menezes, Catarina, Pinto, Pedro S., Freixo, João Parente, Chorão, Rui

Volltext

Hereditary angioedema with normal C1-inhibitor: Clinical and genetic characterization of 15 Portuguese unrelated families von Dias de Castro, Eunice, Pinhal, Ana Luísa, Bragança, Mariana, Parente Freixo, João, Martinho, António

Volltext

Familial occipital lobe epilepsy associated with GABAA receptor variants von Fonte, Joana, Videira, Gonçalo, Chorão, Rui, Freitas, Joel, Carrilho, Inês, Freixo, João Parente, Oliveira, Jorge, Chaves, João

Volltext

TANGO2 Deficiency Disorder: Two Cases of Developmental Delay Preceding Metabolic Crisis von Dias, Joana Valente, Carvalho, Ana Araújo, Freixo, João Parente, Antunes, Diana, Martins, Ana Antunes, Painho, Teresa, Jacinto, Sandra

Volltext

DYNC2H1 splicing variants causing severe prenatal short-rib polydactyly syndrome and postnatal orofaciodigital syndrome von Porto Vasconcelos, Alice, Quental, Sofia, Freixo, João Parente, Pacheco, João Machado, Rodrigues, Sofia, Magalhães, Magda, Oliveira, Renata, Braga, Ana Costa, Quental, Rita

Volltext

Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30 von Santos, Mariana, Massano, João, Lopes, Alexandra Manuel, Brandão, Ana Filipa, Freixo, João Parente, Oliveira, Jorge

Volltext

Diagnosis across a cohort of “atypical” atypical and complex parkinsonism von Malaquias, Maria João, Igreja, Liliana, Nogueira, Célia, Pereira, Cristina, Vilarinho, Laura, Quelhas, Dulce, Freixo, João Parente, Oliveira, Jorge, Magalhães, Marina

Volltext

Parkinsonism and iron deposition in two adult patients with L-2-hydroxiglutaric aciduria von Malaquias, Maria João, Costa, Diogo, Pinto, Eduarda, Videira, Gonçalo, Oliveira, Jorge, Freixo, João Parente, Vilarinho, Laura, Magalhães, Marina

Volltext

X-linked hypophosphatemic rickets: a new mutation von Maio, Patrícia, Mano, Lia, Rocha, Sara, Baptista, Rute Baeta, Francisco, Telma, Sousa, Helena, Freixo, João Parente, Abranches, Margarida

Volltext

Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1 von Malaquias, Maria João, Mendes Pinto, Catarina, Sardoeira, Ana, Oliveira, Jorge, Parente Freixo, João, Aires Silva, Ana, Abreu, Pedro, Rosado Coelho, Cristina, Damásio, Joana, Vila-Chã, Nuno, Magalhães, Marina

Volltext