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TITLE: Sphingolipid and Phospholipid Levels Are Altered in Human Brain in Chorea-Acanthocytosis  Full Text
AUTHORS: Miltenberger Miltenyi, G; Jones, A; Tetlow, AM; Conceição, VA; Crary, JF; Ditzel, RM; ; Farrell, K; Nandakumar, R; Barton, B; Karp, BI; Kirby, A; Lett, DJ; Mente, K; Morgello, S; Simon, DK; Walker, RH;
PUBLISHED: 2023, SOURCE: MOVEMENT DISORDERS
INDEXED IN: Scopus WOS
2
TITLE: Serum Phospholipid Profile Changes in Gaucher Disease and Parkinson's Disease  Full Text
AUTHORS: Lopez de Frutos, Laura; Almeida, Francisco; Murillo Saich, Jessica; Conceicao, Vasco A.; Guma, Monica; Queheberger, Oswald; Giraldo, Pilar; Miltenberger Miltenyi, Gabriel;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 23, ISSUE: 18
INDEXED IN: Scopus WOS
3
TITLE: Fabry Disease Therapy: State-of-the-Art and Current Challenges  Full Text
AUTHORS: Azevedo, O; Gago, MF; Miltenberger Miltenyi, G; Sousa, N; Cunha, D;
PUBLISHED: 2021, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 22, ISSUE: 1
INDEXED IN: Scopus WOS
4
TITLE: Fabry Disease and the Heart: A Comprehensive Review  Full Text
AUTHORS: Azevedo, O; Cordeiro, F; Gago, MF; Miltenberger Miltenyi, G; Ferreira, C; Sousa, N; Cunha, D;
PUBLISHED: 2021, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 22, ISSUE: 9
INDEXED IN: Scopus WOS
5
TITLE: Increased monohexosylceramide levels in the serum of established rheumatoid arthritis patients
AUTHORS: Gabriel Miltenberger Miltenyi; Ana Rita Cruz Machado; Jennifer Saville; Vasco A Conceicao; Angelo Calado; Ines Lopes; Maria Fuller; Joao Eurico Fonseca;
PUBLISHED: 2020, SOURCE: RHEUMATOLOGY, VOLUME: 59, ISSUE: 8
INDEXED IN: Scopus WOS
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TITLE: Novel TBK1 LoF variant in a family with upper motor neuron predominant motor neuron disease  Full Text
AUTHORS: Costa, MR; Gromicho, M; Pronto Laborinho, AC; Miltenberger M Miltenyi; de Carvalho, M;
PUBLISHED: 2019, SOURCE: JOURNAL OF THE NEUROLOGICAL SCIENCES, VOLUME: 403
INDEXED IN: Scopus WOS
9
TITLE: Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia  Full Text
AUTHORS: Stephanie Philtjens; Sara Van Mossevelde; Julie van der Zee; Eline Wauters; Lubina Dillen; Mathieu Vandenbulcke; Rik Vandenberghe; Adrian Ivanoiu; Anne Sieben; Christiana Willems; Luisa Benussi; Roberta Ghidoni; Giuliano Binetti; Barbara Borroni; Alessandro Padovani; Pau Pastor; Monica Diez Fairen; Miquel Aguilar; Alexandre de Mendonca; Gabriel Miltenberger Miltenyi; Isabel Hernandez; Merce Boada; Agustin Ruiz; Benedetta Nacmias; Sandro Sorbi; Maria Rosario Almeida; Isabel Santana; Jordi Clarimon; Alberto Lleo; Giovanni B Frisoni; Raquel Sanchez Valle; Albert Llado; Estrella Gomez Tortosa; Ellen Gelpi; Marleen Van den Broeck; Karin Peeters; Patrick Cras; Peter P De Deyn; Sebastiaan Engelborghs; Marc Cruts; Christine Van Broeckhoven; ...More
PUBLISHED: 2018, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 66
INDEXED IN: Scopus WOS
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TITLE: Serum lipid alterations in GBA-associated Parkinson's disease  Full Text
AUTHORS: Leonor Correia Guedes; Robin Barry Chan; Marcos Antonio Gomes; Vasco A Conceicao; Raquel Bouca Machado; Tiago Soares; Yimeng M Xu; Paulo Gaspar; Joao Andre Carrico; Roy N Alcalay; Joaquim J Ferreira; Tiago Fleming Outeiro; Gabriel Miltenberger Miltenyi;
PUBLISHED: 2017, SOURCE: PARKINSONISM & RELATED DISORDERS, VOLUME: 44
INDEXED IN: WOS
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