| Journal article |
- van der Ende EL; Xiao M; Xu D; Poos JM; Panman JL; Jiskoot LC; Meeter LH; et al. "Neuronal pentraxin 2: a synapse-derived
CSF biomarker in genetic frontotemporal dementia.". Journal of neurology, neurosurgery, and psychiatry (2020): http://europepmc.org/abstract/med/32273328.
10.1136/jnnp-2019-322493
- Le Blanc G; Jetté Pomerleau V; McCarthy J; Borroni B; van Swieten J; Galimberti D; Sanchez-Valle R; et al. "Faster Cortical
Thinning and Surface Area Loss in Presymptomatic and Symptomatic C9orf72 Repeat Expansion Adult Carriers.". Annals of neurology
(2020): http://europepmc.org/abstract/med/32285980.
10.1002/ana.25748
- Azevedo O; Gago MF; Miltenberger-Miltenyi G; Robles AR; Costa MA; Pereira O; Vide AT; et al. "Natural history of the late-onset
phenotype of Fabry disease due to the p.F113L mutation.". Molecular genetics and metabolism reports (2020): http://europepmc.org/abstract/med/32099817.
10.1016/j.ymgmr.2020.100565
- Gago MF; Azevedo O; Guimarães A; Teresa Vide A; Lamas NJ; Oliveira TG; Gaspar P; et al. "Parkinson's Disease and Fabry Disease:
Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees.". Journal of Parkinson's disease (2020): http://europepmc.org/abstract/med/31594250.
10.3233/JPD-191704
- Heller C; Foiani MS; Moore K; Convery R; Bocchetta M; Neason M; Cash DM; et al. "Plasma glial fibrillary acidic protein is
raised in progranulin-associated frontotemporal dementia.". Journal of neurology, neurosurgery, and psychiatry (2020):
http://europepmc.org/abstract/med/31937580.
10.1136/jnnp-2019-321954
- Gabriel Miltenberger-Miltenyi; Ana Rita Cruz-Machado; Jennifer Saville; Vasco A Conceição; Ângelo Calado; Inês Lopes; Maria
Fuller; João Eurico Fonseca. "Increased monohexosylceramide levels in the serum of established rheumatoid arthritis patients".
Rheumatology (2019): https://doi.org/10.1093/rheumatology/kez545.
10.1093/rheumatology/kez545
- van der Ende EL; Meeter LH; Poos JM; Panman JL; Jiskoot LC; Dopper EGP; Papma JM; et al. "Serum neurofilament light chain
in genetic frontotemporal dementia: a longitudinal, multicentre cohort study.". The Lancet. Neurology (2019): http://europepmc.org/abstract/med/31701893.
10.1016/s1474-4422(19)30354-0
- Moore KM; Nicholas J; Grossman M; McMillan CT; Irwin DJ; Massimo L; Van Deerlin VM; et al. "Age at symptom onset and death
and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.". The Lancet. Neurology
(2019): http://europepmc.org/abstract/med/31810826.
10.1016/s1474-4422(19)30394-1
- Azevedo O; Marques N; Craveiro N; Pereira AR; Antunes H; Reis L; Guerreiro RA; et al. "Screening for Fabry disease in patients
with left ventricular noncompaction.". Revista Portuguesa De Cardiologia (2019): http://europepmc.org/abstract/med/31901299.
10.1016/j.repc.2019.02.014
- Carvalho Silva DM; Marques N; Azevedo O; Miltenberger-Miltenyi G; Bento D; Guedes J; Azevedo P; et al. "p.G360R Is a Pathogenic
GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease.". Cardiology (2019): http://europepmc.org/abstract/med/31634893.
10.1159/000502437
- Tavares TP; Mitchell DGV; Coleman K; Shoesmith C; Bartha R; Cash DM; Moore KM; et al. "Ventricular volume expansion in presymptomatic
genetic frontotemporal dementia.". Neurology (2019): http://europepmc.org/abstract/med/31578297.
10.1212/WNL.0000000000008386
- Ribeiro S; Coelho L; Puentes K; Miltenberger-Miltenyi G; Faria B; Calvo L; Primo J; Sanfins V; Lourenço A. "Post mortem genetic
test, the clinical diagnosis is not fade with the death of the patient.". Revista Portuguesa De Cardiologia (2019):
http://europepmc.org/abstract/med/31522937.
10.1016/j.repc.2018.12.004
- Azevedo O; Gal A; Faria R; Gaspar P; Miltenberger-Miltenyi G; Gago MF; Dias F; et al. "Founder effect of Fabry disease due
to p.F113L mutation: Clinical profile of a late-onset phenotype.". Molecular genetics and metabolism (2019): http://europepmc.org/abstract/med/31519519.
10.1016/j.ymgme.2019.07.012
- Costa MR; Gromicho M; Pronto-Laborinho AC; Miltenberger Miltényi G; de Carvalho M. "Novel TBK1 LoF variant in a family with
upper motor neuron predominant motor neuron disease.". Journal of the neurological sciences (2019): http://europepmc.org/abstract/med/31276859.
10.1016/j.jns.2019.06.029
- Gabriel Miltenberger-Miltenyi; Vasco A Conceição; Marta Gromicho; Ana Catarina Pronto-Laborinho; Susana Pinto; Peter M Andersen;
Mamede de Carvalho. "C9orf72 expansion is associated with accelerated decline of respiratory function and decreased survival
in amyotrophic lateral sclerosis". Journal of Neurology, Neurosurgery & Psychiatry 90 1 (2019): 118-120. https://doi.org/10.1136/jnnp-2018-318032.
10.1136/jnnp-2018-318032
- Baradaran-Heravi Y; Dillen L; Nguyen HP; Van Mossevelde S; Baets J; De Jonghe P; Engelborghs S; et al. "No supportive evidence
for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients.". Neurobiology of aging (2018): http://europepmc.org/abstract/med/29886022.
10.1016/j.neurobiolaging.2018.05.005
- Philtjens S; Van Mossevelde S; van der Zee J; Wauters E; Dillen L; Vandenbulcke M; Vandenberghe R; et al. "Rare nonsynonymous
variants in SORT1 are associated with increased risk for frontotemporal dementia.". Neurobiology of aging (2018): http://europepmc.org/abstract/med/29555433.
10.1016/j.neurobiolaging.2018.02.011
- Pinho R; Guedes LC; Soreq L; Lobo PP; Mestre T; Coelho M; Rosa MM; et al. "Correction: Gene Expression Differences in Peripheral
Blood of Parkinson's Disease Patients with Distinct Progression Profiles.". PloS one (2017): http://europepmc.org/abstract/med/29284061.
10.1371/journal.pone.0190552
- Guedes LC; Chan RB; Gomes MA; Conceição VA; Machado RB; Soares T; Xu Y; et al. "Serum lipid alterations in GBA-associated
Parkinson's disease.". Parkinsonism & related disorders (2017): http://europepmc.org/abstract/med/28890071.
10.1016/j.parkreldis.2017.08.026
- De Carvalho M; Ryczkowski A; Andersen P; Gromicho M; Grosskreutz J; Kuzma-Kozakiewicz M; Petri S; Piotrkiewicz M; Miltenberger
Miltenyi G. "International Survey of ALS Experts about Critical Questions for Assessing Patients with ALS.". Amyotrophic
lateral sclerosis & frontotemporal degeneration (2017): http://europepmc.org/abstract/med/28705085.
10.1080/21678421.2017.1349150
- Premi E; Grassi M; van Swieten J; Galimberti D; Graff C; Masellis M; Tartaglia C; et al. "Cognitive reserve and TMEM106B genotype
modulate brain damage in presymptomatic frontotemporal dementia: a GENFI study.". Brain : a journal of neurology (2017):
http://europepmc.org/abstract/med/28460069.
10.1093/brain/awx103
- Brito D; Magalhães A; Cortez-Dias N; Miltenberger-Miltenyi G. "Rare Association of two Genetic Causes of Sudden Death in a
Young Survivor.". Arquivos brasileiros de cardiologia (2017): http://europepmc.org/abstract/med/28327871.
10.5935/abc.20170016
- Azevedo O; Gago M; Miltenberger-Miltenyi G; Gaspar P; Sousa N; Cunha D. "Mild Left Ventricular Hypertrophy Unravels a Novel
Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry Disease.". Cardiology (2017): http://europepmc.org/abstract/med/28152533.
10.1159/000455117
- van der Zee J; Gijselinck I; Van Mossevelde S; Perrone F; Dillen L; Heeman B; Bäumer V; et al. "TBK1 Mutation Spectrum in
an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.". Human mutation
(2017): http://europepmc.org/abstract/med/28008748.
10.1002/humu.23161
- Pinho R; Guedes LC; Soreq L; Lobo PP; Mestre T; Coelho M; Rosa MM; et al. "Gene Expression Differences in Peripheral Blood
of Parkinson's Disease Patients with Distinct Progression Profiles.". PloS one (2016): http://europepmc.org/abstract/med/27322389.
10.1371/journal.pone.0157852
- van der Zee J; Van Langenhove T; Kovacs GG; Dillen L; Deschamps W; Engelborghs S; Matej R; et al. "Rare mutations in SQSTM1
modify susceptibility to frontotemporal lobar degeneration.". Acta neuropathologica (2014): http://europepmc.org/abstract/med/24899140.
10.1007/s00401-014-1298-7
- Machado MV; Janeiro A; Miltenberger-Miltenyi G; Cortez-Pinto H. "Genetic polymorphisms of proangiogenic factors seem to favor
hepatocellular carcinoma development in alcoholic cirrhosis.". European journal of gastroenterology & hepatology (2014):
http://europepmc.org/abstract/med/24445728.
10.1097/meg.0000000000000044
- Brito D; Miltenberger-Miltenyi G; Moldovan O; Navarro C; Madeira HC. "Cardiac Anderson-Fabry disease: lessons from a 25-year-follow
up.". Revista Portuguesa De Cardiologia (2014): http://europepmc.org/abstract/med/24830310.
10.1016/j.repc.2013.10.014
- Madruga Dias JA; Rosa RS; Perpétuo I; Rodrigues AM; Janeiro A; Costa MM; Gaião L; et al. "Pachydermoperiostosis in an African
patient caused by a Chinese/Japanese SLCO2A1 mutation-Case report and review of literature.". (2013): http://europepmc.org/abstract/med/24012041.
10.1016/j.semarthrit.2013.07.015
- van der Zee J; Gijselinck I; Dillen L; Van Langenhove T; Theuns J; Engelborghs S; Philtjens S; et al. "A pan-European study
of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.". (2013):
http://europepmc.org/abstract/med/23111906.
10.1002/humu.22244
- Silva D; Miltenberger-Miltenyi G; Correia MJ; Diogo AN. "Novel mutation in the KCNH2 gene associated with long QT syndrome.".
(2013): http://europepmc.org/abstract/med/23351921.
10.1016/j.repc.2012.06.012
- Pires C; Coelho M; Valadas A; Barroso C; Pimentel J; Martins M; Duyckaerts C; et al. "Phenotypic variability of familial and
sporadic Progranulin p.Gln257Profs*27 mutation.". (2013): http://europepmc.org/abstract/med/23813535.
10.3233/JAD-130146
- Dijkstra, J.R.; Heideman, D.A.M.; Meijer, G.A.; Boers, J.E.; 'T Hart, N.A.; Diebold, J.; Hirschmann, A.; et al. "KRAS mutation
analysis on low percentage of colon cancer cells: The importance of quality assurance". Virchows Archiv 462 1 (2013):
39-46. http://www.scopus.com/inward/record.url?eid=2-s2.0-84872301767&partnerID=MN8TOARS.
10.1007/s00428-012-1356-2
- Michou L; Conceição N; Morissette J; Gagnon E; Miltenberger-Miltenyi G; Siris ES; Brown JP; Cancela ML. "Genetic association
study of UCMA/GRP and OPTN genes (PDB6 locus) with Paget's disease of bone.". (2012): http://europepmc.org/abstract/med/22796589.
10.1016/j.bone.2012.06.028
- Andreasson A; Sulaiman L; do Vale S; Martins JM; Ferreira F; Miltenberger-Miltenyi G; Batista L; et al. "Molecular characterization
of parathyroid tumors from two patients with hereditary colorectal cancer syndromes.". (2012): http://europepmc.org/abstract/med/22395475.
10.1007/s10689-012-9520-z
- Brito D; Miltenberger-Miltenyi G; Vale Pereira S; Silva D; Diogo AN; Madeira H. "Sarcomeric hypertrophic cardiomyopathy: genetic
profile in a Portuguese population.". (2012): http://europepmc.org/abstract/med/22857948.
10.1016/j.repc.2011.12.020
- Jorge C; Marques JS; Miltenberger-Miltényi G; Pinto FJ. "Hypertrophic cardiomyopathy or non-compaction? How the first impression
can be wrong.". (2012): http://europepmc.org/abstract/med/22078399.
10.1016/j.ijcard.2011.10.110
- Chester C; de Carvalho M; Miltenberger G; Pereira S; Dillen L; van der Zee J; van Broeckhoven C; de Mendonça A. "Rapidly progressive
frontotemporal dementia and bulbar amyotrophic lateral sclerosis in Portuguese patients with C9orf72 mutation.". Amyotrophic
lateral sclerosis & frontotemporal degeneration (2012): http://europepmc.org/abstract/med/22742426.
10.3109/17482968.2012.690418
- Neutel D; Miltenberger-Miltenyi G; Silva I; de Carvalho M. "Chorea-acanthocytosis presenting as motor neuron disease.". (2012):
http://europepmc.org/abstract/med/22246890.
10.1002/mus.22269
- Taipa R; Tuna A; Damásio J; Pinto PS; Cavaco S; Pereira S; Milterberger-Miltenyi G; Galimberti D; Melo-Pires M. "Clinical,
neuropathological, and genetic characteristics of the novel IVS9+1delG GRN mutation in a patient with frontotemporal dementia.".
Journal of Alzheimer's disease : JAD (2012): http://europepmc.org/abstract/med/22366770.
10.3233/jad-2012-112084
- Neutel, D.; Miltenberger-Miltenyi, G.; Silva, I.; de Carvalho, M.. "Chorea-acanthocytosis presenting as motor neuron disease".
Muscle and Nerve 45 2 (2012): 293-295. http://www.scopus.com/inward/record.url?eid=2-s2.0-84855857600&partnerID=MN8TOARS.
10.1002/mus. 22269
- Jorge C; Marques JS; Veiga A; Nóbrega J; Cruz J; Peralta R; Correia MJ; et al. "[Novel mutation in long QT syndrome in a patient
with prior diagnosis of epilepsy].". (2011): http://europepmc.org/abstract/med/22104571.
10.1016/j.repc.2011.10.003
- de Oliveira RM; Marijanovic Z; Carvalho F; Miltényi GM; Matos JE; Tenreiro S; Oliveira S; et al. "Impaired proteostasis contributes
to renal tubular dysgenesis.". PloS one (2011): http://europepmc.org/abstract/med/21695262.
10.1371/journal.pone.0020854
- Carvalho FA; Connell S; Miltenberger-Miltenyi G; Pereira SV; Tavares A; Ariëns RA; Santos NC. "Atomic force microscopy-based
molecular recognition of a fibrinogen receptor on human erythrocytes.". (2010): http://europepmc.org/abstract/med/20731444.
10.1021/nn1009648
- Cardoso BM; Dupont J; Castanhinha S; Ejarque-Albuquerque M; Pereira S; Miltenberger-Miltenyi G; Oliveira G. "Cleidocranial
dysplasia with severe parietal bone dysplasia: a new (p.Val124Serfs) RUNX2 mutation.". (2010): http://europepmc.org/abstract/med/20299969.
10.1097/MCD.0b013e32833593a1
- Antunes J; Filipe P; André M; Fraga A; Miltenyi G; Marques Gomes M. "Livedoid vasculopathy associated with plasminogen activator
inhibitor-1 promoter homozygosity (4G/4G) and prothrombin G20210A heterozygosity: response to t-PA therapy.". Acta dermato-venereologica
(2010): http://europepmc.org/abstract/med/20107738.
10.2340/00015555-0760
- Miltenberger-Miltenyi G; Schwarzbraun T; Löscher WN; Wanschitz J; Windpassinger C; Duba HC; Seidl R; et al. "Identification
and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.". (2009): http://europepmc.org/abstract/med/19259128.
10.1038/ejhg.2009.29
- Auer-Grumbach M; Fischer C; Papic L; John E; Plecko B; Bittner RE; Bernert G; et al. "Two novel mutations in the GDAP1 and
PRX genes in early onset Charcot-Marie-Tooth syndrome.". Neuropediatrics (2008): http://europepmc.org/abstract/med/18504680.
10.1055/s-2008-1077085
- Rohkamm B; Reilly MM; Lochmüller H; Schlotter-Weigel B; Barisic N; Schöls L; Nicholson G; et al. "Further evidence for genetic
heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.". (2007): http://europepmc.org/abstract/med/17663003.
10.1016/j.jns.2007.06.047
- Miltenberger-Miltenyi G; Janecke AR; Wanschitz JV; Timmerman V; Windpassinger C; Auer-Grumbach M; Löscher WN. "Clinical and
electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.". (2007): http://europepmc.org/abstract/med/17620486.
10.1001/archneur.64.7.966
- Finsterer J; Miltenberger G; Rauschka H; Janecke A. "Novel C59T leader peptide mutation in the MPZ gene associated with late-onset,
axonal, sensorimotor polyneuropathy.". European journal of neurology (2006): http://europepmc.org/abstract/med/16987171.
10.1111/j.1468-1331.2006.01479.x
- Miltenberger-Miltenyi, G.; Szonyi, L.; Balogh, L.; Utermann, G.; Janecke, A.R.. "Mutation spectrum of type I glycogen storage
disease in Hungary". Journal of Inherited Metabolic Disease 28 6 (2005): 939-944. http://www.scopus.com/inward/record.url?eid=2-s2.0-31644448422&partnerID=MN8TOARS.
10.1007/s10545-005-0186-7
- Grünig E; Koehler R; Miltenberger-Miltenyi G; Zimmermann R; Gorenflo M; Mereles D; Arnold K; et al. "Primary pulmonary hypertension
in children may have a different genetic background than in adults.". (2004): http://europepmc.org/abstract/med/15295086.
10.1203/01.PDR.0000139481.20847.D0
- Miltenberger-Miltenyi G; Laccone F. "Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.". (2003):
http://europepmc.org/abstract/med/12872250.
10.1002/humu.10243
- Rindermann M; Grünig E; von Hippel A; Koehler R; Miltenberger-Miltenyi G; Mereles D; Arnold K; et al. "Primary pulmonary hypertension
may be a heterogeneous disease with a second locus on chromosome 2q31.". (2003): http://europepmc.org/abstract/med/12821254.
10.1016/S0735-1097(03)00491-1
- Janssen B; Rindermann M; Barth U; Miltenberger-Miltenyi G; Mereles D; Abushi A; Seeger W; et al. "Linkage analysis in a large
family with primary pulmonary hypertension: genetic heterogeneity and a second primary pulmonary hypertension locus on 2q31-32.".
(2002): http://europepmc.org/abstract/med/11893685.
10.1378/chest.121.3_suppl.54S
- Grünig E; Mereles D; Arnold K; Benz A; Olschewski H; Miltenberger-Miltenyi G; Borst MM; et al. "Primary pulmonary hypertension
is predominantly a hereditary disease.". Chest (2002): http://europepmc.org/abstract/med/11893705.
10.1378/chest.121.3_suppl.81s
- Grünig, E.; Mereles, D.; Arnold, K.; Benz, A.; Olschewski, H.; Miltenberger-Miltenyi, G.; Borst, M.M.; et al. "Primary pulmonary
hypertension is predominantly a hereditary disease". Chest 121 3 (2002): http://www.scopus.com/inward/record.url?eid=2-s2.0-0036126483&partnerID=MN8TOARS.
- Janssen, B.; Rindermann, M.; Barth, U.; Miltenberger-Miltenyi, G.; Mereles, D.; Abushi, A.; Seeger, W.; et al. "Linkage analysis
in a large family with primary pulmonary hypertension: Genetic heterogeneity and a second primary pulmonary hypertension locus
on 2q31-32". Chest 121 3 (2002): http://www.scopus.com/inward/record.url?eid=2-s2.0-0036128018&partnerID=MN8TOARS.
- Amann K; Miltenberger-Miltenyi G; Simonoviciene A; Koch A; Orth S; Ritz E. "Remodeling of resistance arteries in renal failure:
effect of endothelin receptor blockade.". Journal of the American Society of Nephrology : JASN (2001): http://europepmc.org/abstract/med/11562402.
- Amann, K.; Miltenberger-Miltenyi, G.; Simonoviciene, A.; Koch, A.; Orth, S.; Ritz, E.. "Remodeling of resistance arteries
in renal failure: Effect of endothelin receptor blockade". Journal of the American Society of Nephrology 12 10 (2001):
2040-2050. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034836302&partnerID=MN8TOARS.
- Amann, K.; Buzello, M.; Simonaviciene, A.; Miltenberger-Miltenyi, G.; Koch, A.; Nabokov, A.; Gross, M.-L.; et al. "Capillary/myocyte
mismatch in the heart in renal failure - A role for erythropoietin?". Nephrology Dialysis Transplantation 15 7 (2000):
964-969. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034130587&partnerID=MN8TOARS.
- Ritz, E.; Miltenberger-Miltenyi, G.; Rychlik, I.; Fliser, D.. "Endstage renal failure in diabetes type II - A silent epidemic".
Nephrology 4 5-6 (1998): 299-302. http://www.scopus.com/inward/record.url?eid=2-s2.0-0032454342&partnerID=MN8TOARS.
- Ritz, E.; Rychlík, I.; Miltenberger-Miltenyi, G.. "Optimizing antihypertensive therapy in patients with diabetic nephropathy".
Journal of Hypertension, Supplement 16 7 (1998): http://www.scopus.com/inward/record.url?eid=2-s2.0-0031753741&partnerID=MN8TOARS.
- Ritz, E.; Miltenberger-Miltenyi, G.; Wagner, J.; Rychlik, I.. "Diabetes - Renal function - What are the special problems?".
Basic Research in Cardiology, Supplement 93 1 (1998): 125-130. http://www.scopus.com/inward/record.url?eid=2-s2.0-0031793105&partnerID=MN8TOARS.
- Rychlik, I.; Miltenberger-Miltenyi, G.; Ritz, E.. "The drama of the continuous increase in end-stage renal failure in patients
with type II diabetes mellitus". Nephrology Dialysis Transplantation 13 SUPPL. 8 (1998): 6-10. http://www.scopus.com/inward/record.url?eid=2-s2.0-0031723833&partnerID=MN8TOARS.
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