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Author/Creator Troncoso, Monica

1. Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings. Issue 5 (3rd February 2023)

Authors:
Paiva, Anderson Rodrigues Brandão de; Pessoa, André Luiz Santos; Nóbrega, Paulo Ribeiro; Moreno, Cristiane Araujo Martins; Lynch, David S; Taniguti, Lucas Mitsuo; Kitajima, João Paulo; Freua, Fernando; Della-Ripa, Bruno; Cunha, Paulina; Peixoto de Barcelos, Isabella; Macedo-Souza, Lúcia Inês; Tak...
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 94:Issue 5(2023)
Page Start:
405
Record Type:
Journal Article
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3. Monogenic variants in dystonia: an exome-wide sequencing study. Issue 11 (November 2020)

Authors:
Zech, Michael; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpál, Ján; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fečíková, Anna; Havránková,...
Journal:
Lancet neurology
Issue:
Volume 19:Issue 11(2020)
Page Start:
908
Record Type:
Journal Article
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4. The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome. (July 2019)

Authors:
Maria del Mar, O'Callaghan; Garcia-Cazorla, Àngels; del Carmen Serrano Munuera, Maria; García, Silvia Cuso; Troncoso, Monica; Fariña, Guillermo; García Peñas, Juan José; Fournier, Belen Gil; León, Soraya Ramiro; Guitart, Miriam; Baena, Neus; de Nanclares, Guiomar Perez; Oci, Intzane Ocio; Gutiérr...
Journal:
European journal of paediatric neurology
Issue:
Volume 23:Number 4(2019:Jul.)
Page Start:
609
Record Type:
Journal Article
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5. The phenotypic spectrum of SCN8A encephalopathy. (3rd February 2015)

Authors:
Larsen, Jan; Carvill, Gemma L.; Gardella, Elena; Kluger, Gerhard; Schmiedel, Gudrun; Barisic, Nina; Depienne, Christel; Brilstra, Eva; Mang, Yuan; Nielsen, Jens Erik Klint; Kirkpatrick, Martin; Goudie, David; Goldman, Rebecca; Jähn, Johanna A.; Jepsen, Birgit; Gill, Deepak; Döcker, Miriam; Biskup...
Journal:
Neurology
Issue:
Volume 84:Number 5(2015)
Page Start:
Record Type:
Journal Article
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