Search Results

The parkin V380L variant is a genetic modifier of Machado–Joseph disease with impact on mitophagy.

• Authors : Weber, Jonasz J.; Czisch, Leah; Pereira Sena, Priscila

• Source: Acta Neuropathologica; 8/1/2024, Vol. 148 Issue 1, p1-18, 18p

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Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G > A mutation.

• Authors : Ribeiro, Marta; Jager, Joanna; Furtado, Marta

Subjects: INDUCED pluripotent stem cells; HYPERTROPHIC cardiomyopathy; MONONUCLEAR leukocytes

• Source: Human Cell; Jul2024, Vol. 37 Issue 4, p1205-1214, 10p

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Combining artificial neural networks and hematological data to diagnose Covid-19 infection in Brazilian population.

• Authors : Martins, Tiago D. (AUTHOR); Martins, Sandra D. (AUTHOR); Montalvão, Silmara (AUTHOR)

Subjects: ARTIFICIAL neural networks; COVID-19; BRAZILIANS

• Source: Neural Computing & Applications. Mar2024, Vol. 36 Issue 8, p4387-4399. 13p.

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Functional implications of paralog genes in polyglutamine spinocerebellar ataxias.

• Authors : Felício, Daniela; du Mérac, Tanguy Rubat; Amorim, António

Subjects: POLYGLUTAMINE; PROTEIN conformation; GENES

• Source: Human Genetics; Dec2023, Vol. 142 Issue 12, p1651-1676, 26p

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Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.

• Authors : Martins, Sandra; Yahia, Ashraf; Costa, Inês P. D.

Subjects: AFRICAN American families; HAPLOTYPES; FAMILIESSUDAN; EAST Africa

• Source: Human Genetics; Dec2023, Vol. 142 Issue 12, p1747-1754, 8p

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Low EGFL7 expression is associated with high lymph node spread and invasion of lymphatic vessels in colorectal cancer.

• Authors : de Oliveira, Cristiane; Martins, Sandra Fátima Fernandes; Gonçalves, Paola Gyuliane

Subjects: GENE expression; COLORECTAL cancer; LYMPH nodes

• Source: Scientific Reports; 11/13/2023, Vol. 13 Issue 1, p1-9, 9p

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The Role of Spirituality in the Lives of Women Coping with Early Motherhood.

• Authors : Martins, Sandra (AUTHOR); Gall, Terry Lynn (AUTHOR)

Subjects: MOTHERHOOD; SPIRITUALITY; POSTPARTUM depression

• Source: Pastoral Psychology. Jun2021, Vol. 70 Issue 3, p209-224. 16p. 1 Diagram, 4 Charts.

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Serum inflammatory biomarkers are associated with increased choroidal thickness in keratoconus.

• Authors : Pinheiro-Costa, João; Lima Fontes, Mário; Luís, Carla

Subjects: CHOROID; KERATOCONUS; BIOMARKERS

• Source: Scientific Reports; 7/5/2023, Vol. 13 Issue 1, p1-11, 11p

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Non-coding variants in VAMP2 and SNAP25 affect gene expression: potential implications in migraine susceptibility.

• Authors : Felício, Daniela; Dias, Andreia; Martins, Sandra

Subjects: MIGRAINE risk factors; MIGRAINE; MOLECULAR pathology

• Source: Journal of Headache & Pain; 6/29/2023, Vol. 24 Issue 1, p1-7, 7p

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Evaluation of urinary cysteinyl leukotrienes as biomarkers of severity and putative therapeutic targets in COVID-19 patients.

• Authors : Reina-Couto, Marta; Roboredo-Madeira, Mariana; Pereira-Terra, Patrícia

Subjects: COVID-19; DRUG target; LEUKOTRIENES

• Source: Inflammation Research; Mar2023, Vol. 72 Issue 3, p475-491, 17p

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