List of works by Marta Gromicho

Assessing upper limb function with ALSFRS-R in amyotrophic lateral sclerosis patients

scientific article published on 28 April 2019

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scientific article

Brain white matter demyelinating lesions and amyotrophic lateral sclerosis in a patient with C9orf72 hexanucleotide repeat expansion

scientific article published on 21 June 2017

C9orf72 expansion is associated with accelerated decline of respiratory function and decreased survival in amyotrophic lateral sclerosis

scientific article published on 16 April 2018

Cervical muscle weakness is a marker of respiratory dysfunction in amyotrophic lateral sclerosis

scientific article published on 06 November 2019

Clinical characteristics in young-adult ALS - results from a Portuguese cohort study

scientific article published on 11 July 2020

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

preprint

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

Contrast between extensive variation of 28S rDNA and stability of 5S rDNA and telomeric repeats in the diploid-polyploid Squalius alburnoides complex and in its maternal ancestor Squalius pyrenaicus (Teleostei, Cyprinidae)

article published in 2006

Cytogenetic analysis of Anaecypris hispanica and its relationship with the paternal ancestor of the diploid-polyploid Squalius alburnoides complex

article

DNA Repair and Resistance to Cancer Therapy

DNA damage response in imatinib resistant chronic myeloid leukemia K562 cells

scientific article published on 21 May 2012

Development of imatinib and dasatinib resistance: dynamics of expression of drug transportersABCB1, ABCC1, ABCG2, MVP, and SLC22A1

article

Diaphragmatic CMAP amplitude from phrenic nerve stimulation predicts functional decline in ALS

scientific article published on 06 April 2020

Dynamics of Expression of Drug Transporters: Methods for Appraisal

scientific article published on January 2016

Family history of neurodegenerative disorders in patients with amyotrophic lateral sclerosis: population-based case-control study

scientific article published on 12 March 2020

Frequency of C9orf72 hexanucleotide repeat expansion and SOD1 mutations in Portuguese patients with amyotrophic lateral sclerosis

article

Genomics and cancer drug resistance.

scientific article published on April 2012

Impact of comorbidities and co-medication on disease onset and progression in a large German ALS patient group

scientific article published on 07 April 2020

Instability of mRNA expression signatures of drug transporters in chronic myeloid leukemia patients resistant to imatinib.

scientific article

Interleukin-6 and amyotrophic lateral sclerosis

scientific article published on 16 January 2019

International Survey of ALS Experts about Critical Questions for Assessing Patients with ALS.

scientific article published on 13 July 2017

Investigating LGALS3BP/90 K glycoprotein in the cerebrospinal fluid of patients with neurological diseases

scientific article published on 27 March 2020

Lack of correspondence between CMA 3 -, Ag-positive signals and 28S rDNA loci in two Iberian minnows (Teleostei, Cyprinidae) evidenced by sequential banding

article

Learning Prognostic Models Using Disease Progression Patterns: Predicting the Need for Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis

scientific article published in 2022

Learning prognostic models using a mixture of biclustering and triclustering: Predicting the need for non-invasive ventilation in Amyotrophic Lateral Sclerosis

scientific article published in 2022

Novel TBK1 LoF variant in a family with upper motor neuron predominant motor neuron disease

scientific article published on 27 June 2019

Peripheral neuropathy in ALS: phenotype association

scientific article published on 28 December 2020

Phosphoneurofilament heavy chain and vascular endothelial growth factor as cerebrospinal fluid biomarkers for ALS

scientific article published on 11 August 2016

Plasma level of club-cell (CC-16) predicts outcome in amyotrophic lateral sclerosis.

scientific article

Polymorphism of major ribosomal gene chromosomal sites (NOR-phenotypes) in the hybridogenetic fish Squalius alburnoides complex (Cyprinidae) assessed through crossing experiments

article

Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model

scientific article published on 26 March 2018

Reliability of phrenic nerve conduction study: In healthy controls and in patients with primary lateral sclerosis

scientific article published on 03 March 2020

Sialorrhoea and reversals in ALS functional rating scale

scientific article published on 15 September 2016

Simultaneous production of triploid and haploid eggs by triploid Squalius alburnoides (Teleostei: Cyprinidae)

scientific article published on 01 July 2004

Targeted next-generation sequencing study in familial ALS-FTD Portuguese patients negative for C9orf72 HRE

scientific article published on 07 July 2020

Transforming growth factor-β plasma levels and its role in amyotrophic lateral sclerosis

scientific article published on 14 February 2020

VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease

scientific article published on 03 April 2020

Very late-onset amyotrophic lateral sclerosis in a Portuguese cohort

scientific article published on 28 September 2018

Young-onset rapidly progressive ALS associated with heterozygous FUS mutation

scientific article published on 13 March 2017

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