At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years
Guatibonza Moreno, Pilar, Pardo, Luba M, Pereira, Catarina, Schroeder, Sabine, Vagiri, Deepthi, Almeida, Ligia S, Juaristi, Carlos, Hosny, Heba, Loh, Clarice C Y, Leubauer, Anika, Torres Morales, Galina, Oppermann, Sebastian, Iurașcu, Marius-Ionuț, Fischer, Steffen, Steinicke, Tara-Marisa, Viceconte, Nikenza, Cozma, Claudia, Kandaswamy, Krishna Kumar, Pinto Basto, Jorge, Böttcher, Tobias, Bauer, Peter, Bertoli-Avella, Aida
Published in European journal of human genetics : EJHG (01.10.2023)
Published in European journal of human genetics : EJHG (01.10.2023)
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Journal Article
Exocytotic release of creatine in rat brain
Almeida, Ligia S., Salomons, Gajja S., Hogenboom, Francois, Jakobs, Cornelis, Schoffelmeer, Anton N.M.
Published in Synapse (New York, N.Y.) (01.08.2006)
Published in Synapse (New York, N.Y.) (01.08.2006)
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Journal Article
High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation
Rosenberg, Efraim H., Almeida, Ligia S., Kleefstra, Tjitske, deGrauw, Rose S., Yntema, Helger G., Bahi, Nadia, Moraine, Claude, Ropers, Hans-Hilger, Fryns, Jean-Pierre, deGrauw, Ton J., Jakobs, Cornelis, Salomons, Gajja S.
Published in American journal of human genetics (01.07.2004)
Published in American journal of human genetics (01.07.2004)
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Journal Article
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients
Almeida, Ligia S, Pereira, Catarina, Aanicai, Ruxandra, Schröder, Sabine, Bochinski, Tomasz, Kaune, Anett, Urzi, Alice, Spohr, Tania C L S, Viceconte, Nikenza, Oppermann, Sebastian, Alasel, Mohammed, Ebadat, Saeedeh, Iftikhar, Sana, Jasinge, Eresha, Elsayed, Solaf M, Tomoum, Hoda, Marzouk, Iman, Jalan, Anil B, Cerkauskaite, Agne, Cerkauskiene, Rimante, Tkemaladze, Tinatin, Nadeem, Anjum Muhammad, El Din Mahmoud, Iman Gamal, Mossad, Fawzia Amer, Kamel, Mona, Selim, Laila Abdel, Cheema, Huma Arshad, Paknia, Omid, Cozma, Claudia, Juaristi-Manrique, Carlos, Guatibonza-Moreno, Pilar, Böttcher, Tobias, Vogel, Florian, Pinto-Basto, Jorge, Bertoli-Avella, Aida, Bauer, Peter
Published in European journal of human genetics : EJHG (01.09.2022)
Published in European journal of human genetics : EJHG (01.09.2022)
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Journal Article
Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders
Cruz, Simão, Taipa, Ricardo, Nogueira, Célia, Pereira, Cristina, Almeida, Lígia S., Neiva, Raquel, Geraldes, Tiago, Guimarães, António, Melo‐Pires, Manuel, Vilarinho, Laura
Published in Muscle & nerve (01.11.2017)
Published in Muscle & nerve (01.11.2017)
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Journal Article
Syndromes associated with mitochondrial DNA depletion
Nogueira, Célia, Almeida, Ligia S, Nesti, Claudia, Pezzini, Ilaria, Videira, Arnaldo, Vilarinho, Laura, Santorelli, Filippo M
Published in Italian journal of pediatrics (03.04.2014)
Published in Italian journal of pediatrics (03.04.2014)
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Journal Article
Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients
Ferreira, Filipa, Esteves, Sofia, Almeida, Lígia S, Gaspar, Ana, da Costa, Cláudia Dias, Janeiro, Patrícia, Bandeira, Anabela, Martins, Esmeralda, Teles, Elisa Leão, Garcia, Paula, Azevedo, Luísa, Vilarinho, Laura
Published in Gene (15.09.2013)
Published in Gene (15.09.2013)
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Journal Article
Are cerebral creatine deficiency syndromes on the radar screen?
Almeida, Lígia S, Rosenberg, Efraim H, Verhoeven, Nanda M, Jakobs, Cornelis, Salomons, Gajja S
Published in Future Neurology (01.09.2006)
Published in Future Neurology (01.09.2006)
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Journal Article
Book Review
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology
CLARK, Amy J, ROSENBERG, Efraim H, ALMEIDA, Ligia S, WOOD, Tim C, JAKOBS, Cornelis, STEVENSON, Roger E, SCHWARTZ, Charles E, SALOMONS, Gajja S
Published in Human genetics (01.07.2006)
Published in Human genetics (01.07.2006)
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Journal Article
Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing
Zonic, Emir, Ferreira, Mariana, Pardo, Luba M., Martini, Javier, Rocha, Maria Eugenia, Aanicai, Ruxandra, Ordonez-Herrera, Natalia, Saravanakumar, Deepa, Almeida, Ligia S., Fernandes, Inês C., Gulati, Nishtha, Mannepalli, Sumanth, Hercegovac, Amela, Al-Ali, Ruslan, Pereira, Catarina, Paknia, Omid, Hladnik, Uros, Bauer, Peter, Pinto Basto, Jorge, Bertoli-Avella, Aida M.
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
Relative frequency of known causes of multiple mtDNA deletions: Two novel POLG mutations
Ferreira, Mariana, Evangelista, Teresinha, Almeida, Lígia S, Martins, João, Macario, Maria Carmo, Martins, Esmeralda, Moleirinho, Ana, Azevedo, Luísa, Vilarinho, Laura, Santorelli, Filippo M
Published in Neuromuscular disorders : NMD (01.07.2011)
Published in Neuromuscular disorders : NMD (01.07.2011)
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Journal Article
Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database
BETSALEL, Ofir T, ROSENBERG, Efraim H, DEN DUNNEN, Johan T, JAKOBS, Cornelis, SALOMONS, Gajja S, ALMEIDA, Ligia S, KLEEFSTRA, Tjitske, SCHWARTZ, Charles E, VALAYANNOPOULOS, Vassili, ABDUL-RAHMAN, Omar, POPLAWSKI, Nicola, VILARINHO, Laura, WOLF, Philipp
Published in European journal of human genetics : EJHG (01.01.2011)
Published in European journal of human genetics : EJHG (01.01.2011)
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Journal Article
Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport
Almeida, Lı́gia S, Verhoeven, Nanda M, Roos, Birthe, Valongo, Carla, Cardoso, Maria Luis, Vilarinho, Laura, Salomons, Gajja S, Jakobs, Cornelis
Published in Molecular genetics and metabolism (01.07.2004)
Published in Molecular genetics and metabolism (01.07.2004)
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Journal Article
Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene
David, Dezső, Almeida, Lígia S., Maggi, Maristella, Araújo, Carlos, Imreh, Stefan, Valentini, Giovanna, Fekete, György, Haltrich, Irén
Published in JIMD Reports, Volume 23 (01.01.2015)
Published in JIMD Reports, Volume 23 (01.01.2015)
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Book Chapter
Journal Article
Novel mutation in the mitochondrial transfer RNACys gene in a child with vomiting and migraine
Almeida, Lígia S., Martins, Esmeralda, Santorelli, Filippo M., Vilarinho, Laura
Published in Mitochondrion (01.11.2013)
Published in Mitochondrion (01.11.2013)
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Journal Article
“Double-trouble” or digenic disorder in complex I deficiency
Almeida, Lígia S., Ferreira, Mariana, Nogueira, Célia, Furtado, Fátima, Evangelista, Teresinha, Santorelli, Filippo M., Vilarinho, Laura
Published in Mitochondrion (01.09.2012)
Published in Mitochondrion (01.09.2012)
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Journal Article