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Eine Kinderkrankheit wird erwachsen: Das Krankheitsbild von Niemann-Pick Typ C bei pädiatrischen und erwachsenen Patient_innen.
- Published in:
- Zeitschrift für Neuropsychologie, 2023, v. 34, n. 1, p. 13, doi. 10.1024/1016-264X/a000369
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- Article
Drivers of Perceived Nuisance Growth by Aquatic Plants.
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- Environmental Management, 2023, v. 71, n. 5, p. 1024, doi. 10.1007/s00267-022-01781-x
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- Article
Movement Disorders in Patients with Subacute Sclerosing Panencephalitis: A Systematic Review.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 7, p. 770, doi. 10.1002/mdc3.14062
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- Article
Thyroid Disorders and Movement Disorders—A Systematic Review.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 3, p. 360, doi. 10.1002/mdc3.13656
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- Article
Hematologic Follow‐up as Clue to Polycythemia Vera due to JAK2 Mutation Presenting as Late Onset Chorea.
- Published in:
- 2018
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- Publication type:
- Case Study
Huntington's Disease, Huntington's Disease Look-Alikes , and Benign Hereditary Chorea: What's New?
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- Movement Disorders Clinical Practice, 2016, v. 3, n. 4, p. 342, doi. 10.1002/mdc3.12312
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- Publication type:
- Article
XPR1 Mutations: Another Cause of Primary Familial Brain Calcification.
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- Movement Disorders Clinical Practice, 2016, v. 3, n. 1, p. 27, doi. 10.1002/mdc3.12240
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- Publication type:
- Article
Abnormalities of Masseteric Inhibitory Reflex in Hereditary Geniospasm: Evidence for a Brainstem Myoclonus.
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- Movement Disorders Clinical Practice, 2015, v. 2, n. 1, p. 49, doi. 10.1002/mdc3.12097
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- Publication type:
- Article
Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease.
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- 2022
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- Publication type:
- journal article
Ecological correlates of riverine diatom and macroinvertebrate alpha and beta diversity across Arctic Fennoscandia.
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- Freshwater Biology, 2022, v. 67, n. 1, p. 49, doi. 10.1111/fwb.13616
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- Article
Biodiversity patterns of Arctic diatom assemblages in lakes and streams: Current reference conditions and historical context for biomonitoring.
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- Freshwater Biology, 2022, v. 67, n. 1, p. 116, doi. 10.1111/fwb.13490
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- Publication type:
- Article
Long-term effects of liming in Norwegian softwater lakes: the rise and fall of bulbous rush ( Juncus bulbosus) and decline of isoetid vegetation.
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- Freshwater Biology, 2016, v. 61, n. 5, p. 769, doi. 10.1111/fwb.12748
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- Publication type:
- Article
Nuisance growth of Juncus bulbosus: the roles of genetics and environmental drivers tested in a large-scale survey.
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- Freshwater Biology, 2013, v. 58, n. 1, p. 114, doi. 10.1111/fwb.12043
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- Publication type:
- Article
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome.
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- Clinical Genetics, 2010, v. 78, n. 6, p. 594, doi. 10.1111/j.1399-0004.2010.01447.x
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- Article
Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 4, p. 1389, doi. 10.1093/brain/awad357
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- Publication type:
- Article
Genome-wide association study in essential tremor identifies three new loci.
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- Brain: A Journal of Neurology, 2016, v. 139, n. 12, p. 3163, doi. 10.1093/brain/aww242
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- Publication type:
- Article
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.
- Published in:
- 2008
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- Publication type:
- journal article
Prominent Oromandibular Dystonia and Pharyngeal Telangiectasia in Atypical Ataxia Telangiectasia.
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- Cerebellum, 2009, v. 8, n. 1, p. 22, doi. 10.1007/s12311-008-0055-7
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- Publication type:
- Article
Neurodevelopmental disorder with dystonia due to SOX6 mutations.
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- 2022
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- Publication type:
- Case Study
Biochemical and genetic analysis of RNA cap guanine-N2 methyltransferases from Giardia lamblia and Schizosaccharomyces pombe.
- Published in:
- Nucleic Acids Research, 2007, v. 35, n. 5, p. 1411, doi. 10.1093/nar/gkl1150
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- Publication type:
- Article
Expression of resistance-related proteins in nephroblastoma after chemotherapy.
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- International Journal of Cancer, 1995, v. 63, n. 2, p. 193, doi. 10.1002/ijc.2910630208
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- Publication type:
- Article
The Balkan Macrophyte Index (BMI) for Assessment of Eutrophication in Lakes.
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- Acta Zoologica Bulgarica, 2020, v. 72, n. 3, p. 439
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- Publication type:
- Article
Analysis of short tandem repeat expansions and their methylation state with nanopore sequencing.
- Published in:
- Nature Biotechnology, 2019, v. 37, n. 12, p. 1478, doi. 10.1038/s41587-019-0293-x
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- Publication type:
- Article
Rapid and prognostically valid quantification of immunohistochemical reactions by immunohistometry of the most positive tumour focus. A prospective follow-up study on breast cancer using antibodies against MIB-1, PCNA, ER, and PR.
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- Journal of Pathology, 1998, v. 185, n. 1, p. 25, doi. 10.1002/(SICI)1096-9896(199805)185:1<25::AID-PATH40>3.0.CO;2-R
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- Publication type:
- Article
A case series of GRN mutations from German-speaking countries.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2014, v. 10, p. P628, doi. 10.1016/j.jalz.2014.05.1092
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- Publication type:
- Article
An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice.
- Published in:
- Nature Genetics, 2004, v. 36, n. 5, p. 481, doi. 10.1038/ng1350
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- Publication type:
- Article
The Trophic Index of Macrophytes (TIM) - a New Tool for Indicating the Trophic State of Running Waters.
- Published in:
- International Review of Hydrobiology, 2003, v. 88, n. 1, p. 49, doi. 10.1002/iroh.200390005
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- Publication type:
- Article
Recovery of benthic algal assemblages from acidification: how long does it take, and is there a link to eutrophication?
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- Hydrobiologia, 2018, v. 805, n. 1, p. 33, doi. 10.1007/s10750-017-3254-8
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- Publication type:
- Article
Distinct pattern of enteric phospho-alphasynuclein aggregates and gene expression profiles in patients with Parkinson's disease.
- Published in:
- Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-016-0408-2
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- Publication type:
- Article
Rapid colonization of aquatic communities in an urban stream after daylighting.
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- Restoration Ecology, 2021, v. 29, n. 5, p. 1, doi. 10.1111/rec.13394
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- Publication type:
- Article
No Association of the BDNF Val66met Polymorphism with Implicit Associative Vocabulary and Motor Learning.
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- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0048327
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- Publication type:
- Article
Comparative Examination of Testicular Biopsy Samples and Influence on Semen Characteristics in Budgerigars.
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- Journal of Avian Medicine & Surgery, 2008, v. 22, n. 4, p. 300, doi. 10.1647/2007-057.1
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- Publication type:
- Article
Nutrient retention by the littoral vegetation of a large lake: Can Lake Ohrid cope with current and future loading?
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- Limnology & Oceanography, 2020, v. 65, n. 10, p. 2390, doi. 10.1002/lno.11460
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- Publication type:
- Article
Neurodegeneration with Brain Iron Accumulation.
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- Current Neurology & Neuroscience Reports, 2016, v. 16, n. 1, p. 1, doi. 10.1007/s11910-015-0608-3
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- Publication type:
- Article
What Is the Role of Genetic Testing in Movement Disorders Practice?
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- Current Neurology & Neuroscience Reports, 2011, v. 11, n. 4, p. 351, doi. 10.1007/s11910-011-0200-4
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- Publication type:
- Article
Rare Causes of Dystonia Parkinsonism.
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- Current Neurology & Neuroscience Reports, 2010, v. 10, n. 6, p. 431, doi. 10.1007/s11910-010-0136-0
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- Publication type:
- Article
Sex steroid metabolism in human peripheral blood mononuclear cells changes with aging.
- Published in:
- 2005
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- Publication type:
- journal article
Beyond Adrenal and Ovarian Androgen Generation: Increased Peripheral 5α-Reductase Activity in Women with Polycystic Ovary Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 6, p. 2760, doi. 10.1210/jc.2002-021875
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- Publication type:
- Article
Causes of Stress among Healthcare Professionals and Successful Hospital Management Approaches to Mitigate It during the COVID-19 Pandemic: A Cross-Sectional Study.
- Published in:
- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 19, p. 12963, doi. 10.3390/ijerph191912963
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- Publication type:
- Article
Preserved micturition after intradetrusor onabotulinumtoxinA injection for treatment of neurogenic bladder dysfunction in Parkinson's disease.
- Published in:
- 2016
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- Publication type:
- journal article
Psychogenic tremor and related disorders.
- Published in:
- Journal of Neurology, 2007, v. 254, n. 5, p. 569, doi. 10.1007/s00415-006-0348-z
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- Publication type:
- Article
Wilms' tumor-specific methylation pattern in 11p13 detected by PFGE.
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- Genes, Chromosomes & Cancer, 1992, v. 5, n. 2, p. 132, doi. 10.1002/gcc.2870050207
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- Publication type:
- Article
Brain iron accumulation in Wilson's disease: A longitudinal imaging case study during anticopper treatment using 7.0T MRI and transcranial sonography.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Identification and functional analysis of novel THAP1 mutations.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 171, doi. 10.1038/ejhg.2011.159
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- Publication type:
- Article
Changes in the diatom community in the great lake (Lurë National Park, Albania) from 2005 to 2017 and first steps towards assessment the water quality.
- Published in:
- Biologia, 2020, v. 75, n. 11, p. 1815, doi. 10.2478/s11756-020-00538-3
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- Publication type:
- Article
Assessment of littoral eutrophication in Lake Ohrid by submerged macrophytes.
- Published in:
- Biologia, 2014, v. 69, n. 6, p. 756, doi. 10.2478/s11756-014-0365-9
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- Publication type:
- Article
Torn Between Two Plates: Exhumation of the Cer Massif (Internal Dinarides) as a Far‐Field Effect of Carpathian Slab Rollback Inferred From <sup>40</sup>Ar/<sup>39</sup>Ar Dating and Cross Section Balancing.
- Published in:
- Tectonics, 2021, v. 40, n. 6, p. 1, doi. 10.1029/2021TC006699
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- Publication type:
- Article
Faciobrachial dystonic seizures: the influence of immunotherapy on seizure control and prevention of cognitive impairment in a broadening phenotype.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 10, p. 3151, doi. 10.1093/brain/awt212
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- Publication type:
- Article
Revisiting global diversity and biogeography of freshwater diatoms: New insights from molecular data.
- Published in:
- Environmental DNA, 2023, v. 5, n. 6, p. 1505, doi. 10.1002/edn3.475
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- Publication type:
- Article
Charophytes in warm springs on Svalbard (Spitsbergen): DNA barcoding identifies Chara aspera and Chara canescens with unusual morphological traits.
- Published in:
- Environmental & Experimental Biology, 2022, v. 20, n. 2, p. 144
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- Publication type:
- Article