Management of information within Portuguese families with Huntington disease: a transgenerational process for putting the puzzle together von Oliveira, Carla Roma, Mendes, Álvaro, Sequeiros, Jorge, Sousa, Liliana

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Updated frequency analysis of spinocerebellar ataxia in China von Chen, Zhao, Wang, Puzhi, Wang, Chunrong, Peng, Yun, Hou, Xiaocan, Zhou, Xin, Li, Tianjiao, Peng, Huirong, Qiu, Rong, Xia, Kun, Sequeiros, Jorge, Tang, Beisha, Jiang, Hong

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John MacMillan, M.D. (1959–2014): an inspiring example of a community clinical geneticist von Sequeiros, Jorge

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A genetic interaction of NRXN2 with GABRE, SYT1 and CASK in migraine patients: a case-control study von Alves-Ferreira, Miguel, Quintas, Marlene, Sequeiros, Jorge, Sousa, Alda, Pereira-Monteiro, José, Alonso, Isabel, Neto, João Luís, Lemos, Carolina

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Short Communication: Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal von Couto, Daniela, Sousa, Liliana, Sequeiros, Jorge, Lima, Manuela, Mendes, Álvaro

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Role of older generations in the family’s adjustment to Huntington disease von Oliveira, Carla Roma, Mendes, Álvaro, Sequeiros, Jorge, Sousa, Liliana

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Large normal alleles of ATXN2 decrease age at onset in transthyretin familial amyloid polyneuropathy Val30Met patients von Santos, Diana, Coelho, Teresa, Alves‐Ferreira, Miguel, Sequeiros, Jorge, Mendonça, Denisa, Alonso, Isabel, Sousa, Alda, Lemos, Carolina

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Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M) von Santos, Diana, Coelho, Teresa, Alves-Ferreira, Miguel, Sequeiros, Jorge, Mendonça, Denisa, Alonso, Isabel, Lemos, Carolina, Sousa, Alda

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Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing von Raposo, Mafalda, Bettencourt, Conceição, Melo, Ana Rosa Vieira, Ferreira, Ana F., Alonso, Isabel, Silva, Paulo, Vasconcelos, João, Kay, Teresa, Saraiva-Pereira, Maria Luiza, Costa, Marta D., Vilasboas-Campos, Daniela, Bettencourt, Bruno Filipe, Bruges-Armas, Jácome, Houlden, Henry, Heutink, Peter, Jardim, Laura Bannach, Sequeiros, Jorge, Maciel, Patrícia, Lima, Manuela

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Congenital ataxia due to novel variant in ATP8A2 von Damásio, Joana, Santos, Diana, Morais, Sara, Brás, José, Guerreiro, Rita, Sardoeira, Ana, Cavaco, Sara, Carrilho, Inês, Barbot, Clara, Barros, José, Sequeiros, Jorge

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A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37 von Loureiro, Joana Rocha, Oliveira, Cláudia Louro, Sequeiros, Jorge, Silveira, Isabel

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Professor Paula Coutinho (1941-2022) von Teive, Hélio Afonso Ghizoni, Coutinho, Léo, Ferreira, Joaquim José, Sequeiros, Jorge

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Yemenite-Jewish families with Machado-Joseph disease (MJD/SCA3) share a recent common ancestor von Sharony, Reuven, Martins, Sandra, Costa, Inês P D, Zaltzman, Roy, Amorim, António, Sequeiros, Jorge, Gordon, Carlos R

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Is the High Frequency of Machado-Joseph Disease in China Due to New Mutational Origins? von Li, Tianjiao, Martins, Sandra, Peng, Yun, Wang, Puzhi, Hou, Xiaocan, Chen, Zhao, Wang, Chunrong, Tang, Zhaoli, Qiu, Rong, Chen, Chao, Hu, Zhengmao, Xia, Kun, Tang, Beisha, Sequeiros, Jorge, Jiang, Hong

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A new scale informed by the Reciprocal-Engagement Model for quality evaluation of genetic counselling by patients: Development and initial validation von Paneque, Milena, Carvalho, Márcia, Rodrigues, Fidjy, Saraiva, Jorge, Leonardo, Alexandra, Sousa, Ana B., Machado, Vânia, Gonçalves-Rocha, Miguel, Sequeiros, Jorge, Costa, Patrício Soares, Serra de Lemos, Marina

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Twenty Years of a Pre-Symptomatic Testing Protocol for Late-Onset Neurological Diseases in Portugal von Paneque, Milena, Félix, Joana, Mendes, Álvaro, Lemos, Carolina, Lêdo, Susana, Silva, João, Sequeiros, Jorge

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A Pipeline to Assess Disease-Associated Haplotypes in Repeat Expansion Disorders: The Example of MJD/SCA3 Locus von Costa, Inês P D, Almeida, Beatriz C, Sequeiros, Jorge, Amorim, António, Martins, Sandra

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Molecular characterization of Portuguese patients with hereditary cerebellar ataxia von Santos, Mariana, Damásio, Joana, Carmona, Susana, Aguiar Martins Neto, João Luís, Dehghani, Nadia, Correia Guedes, Leonor, Barbot, Clara, Barros, José, Brás, José, Sequeiros, Jorge, Guerreiro, Rita

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The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin von Moreira, Maria-Céu, Barbot, Clara, Tachi, Nobutada, Kozuka, Naoki, Uchida, Eiji, Gibson, Toby, Mendonça, Pedro, Costa, Manuela, Barros, José, Yanagisawa, Takayuki, Watanabe, Mitsunori, Ikeda, Yoshio, Aoki, Masashi, Nagata, Tetsuya, Coutinho, Paula, Sequeiros, Jorge, Koenig, Michel

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Interaction between γ-aminobutyric acid A receptor genes: new evidence in migraine susceptibility von Quintas, Marlene, Neto, João Luís, Pereira-Monteiro, José, Barros, José, Sequeiros, Jorge, Sousa, Alda, Alonso, Isabel, Lemos, Carolina

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