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2016, ISBN 9783903131514, 208
Book
Clinical research in cardiology, ISSN 1861-0684, 04/2020, Volume 109, Issue 4, pp. 527 - 528
Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Electrophysiologic Techniques, Cardiac - history | Arrhythmias, Cardiac - therapy | History, 21st Century | Cardiac Electrophysiology - history | History, 20th Century | Humans | Biomedical Research - history | Arrhythmias, Cardiac - history | Arrhythmias, Cardiac - diagnosis | Arrhythmias, Cardiac - physiopathology | Electrophysiology | Index Medicus | Seipel
Journal Article
Zeitschrift für Bibliothekswesen und Bibliographie, ISSN 0044-2380, 02/2010, Volume 57, Issue 1, pp. 60 - 61
Journal Article
2017, Originalausg., ISBN 3451377861, 316
Book
European economic review, ISSN 0014-2921, 2006, Volume 50, Issue 3, pp. 695 - 736
Journal Article
American journal of human genetics, ISSN 0002-9297, 02/2013, Volume 92, Issue 2, pp. 238 - 244
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Neuroimaging | Spastic Paraplegia, Hereditary - genetics | Humans | Middle Aged | Child, Preschool | Infant | Male | Zebrafish | Mutation - genetics | Motor Neurons - pathology | Young Adult | Animals | Pedigree | beta-Glucosidase - genetics | Adolescent | Brain - pathology | Adult | Family | Female | Aged | Zebrafish Proteins - genetics | Spastic Paraplegia, Hereditary - enzymology | Child | Motor neurons | Gene mutations | Genetic variation | Paralysis, Spastic | Physiological aspects | Causes of | Genetic aspects | Research | Enzyme activation | Glucose metabolism | Enzymes | Molecular genetics | RNA | Neurons | Heat shock proteins | Glucose | Dextrose | Deoxycholic acid | Brain | Genotype & phenotype | Paralysis | Enzyme kinetics | Chromosomes | Index Medicus | Report
Journal Article
Human mutation, ISSN 1059-7794, 02/2013, Volume 34, Issue 2, pp. 363 - 373
European Early‐Onset Dementia consortium | repeat expansion | FTLD | C9orf72 | intermediate alleles | Repeat expansion | Intermediate alleles | European Early-Onset Dementia consortium | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Haplotypes | Genomic Instability | Prevalence | Humans | Middle Aged | Molecular Sequence Data | Chromosomes, Human, Pair 9 - genetics | DNA Repeat Expansion | Base Sequence | Aged, 80 and over | Adult | C9orf72 Protein | Europe - epidemiology | Sweden - epidemiology | Germany - epidemiology | Proteins - genetics | Spain - epidemiology | Age of Onset | Alleles | Aged | Frontotemporal Lobar Degeneration - genetics | Alzheimer Disease - genetics | Frontotemporal Lobar Degeneration - epidemiology | Genome-Wide Association Study - methods | Finland - epidemiology | Cohort Studies | Analysis | Genes | Genetic research | Universities and colleges | Genetic transcription | Alzheimer's disease | Prevalence studies (Epidemiology) | Index Medicus | Medicin och hälsovetenskap
Journal Article
Nature genetics, ISSN 1061-4036, 03/2009, Volume 41, Issue 3, pp. 277 - 279
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Neurology | Biological and medical sciences | Nervous system as a whole | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Nervous system (semeiology, syndromes) | Genetics, Population | Genetic Predisposition to Disease | Genome-Wide Association Study | Essential Tremor - genetics | Membrane Proteins - genetics | United States | Gene Frequency | Humans | Risk Factors | Polymorphism, Single Nucleotide - physiology | Nerve Tissue Proteins - genetics | Iceland | Linkage Disequilibrium | Mice, Knockout | Austria | Animals | Mice | Germany | Genetic aspects | Research | Tremor | Genetic variation | Risk factors | Studies | Medical research | Beta blockers | Genetic linkage | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 08/2013, Volume 45, Issue 8, pp. 933 - 936
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Prognosis | Humans | Molecular Sequence Data | Aneuploidy | Male | Gene Expression Profiling | DNA Copy Number Variations | Exome | Chromosomes, Human, Pair 3 | Neoplasm Metastasis | Melanoma - genetics | Ribonucleoprotein, U2 Small Nuclear - genetics | Eukaryotic Initiation Factor-1 - chemistry | Female | Microsatellite Repeats | Amino Acid Sequence | Uveal Neoplasms - genetics | Uveal Neoplasms - pathology | Eukaryotic Initiation Factor-1 - genetics | RNA Splicing Factors | Melanoma - pathology | Phosphoproteins - genetics | Monosomy - genetics | Sequence Alignment | Uveal Neoplasms - mortality | High-Throughput Nucleotide Sequencing | Mutation | Melanoma - mortality | Usage | Gene mutations | Melanoma | Physiological aspects | Genetic aspects | Research | Nucleotide sequencing | Risk factors | DNA sequencing | Gene expression | Tumors | Index Medicus
Journal Article
Brain (London, England : 1878), ISSN 0006-8950, 05/2016, Volume 139, Issue 5, pp. 1378 - 1393
motor neuron disease | genetics | ataxia | hereditary spastic paraplegia | Nesprin 1 | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neuroimaging | Heredodegenerative Disorders, Nervous System - genetics | Evoked Potentials, Motor - physiology | Humans | Middle Aged | Male | Positron-Emission Tomography | Mutation, Missense | Brain - metabolism | Young Adult | Cerebellar Ataxia - physiopathology | Cerebellar Ataxia - diagnostic imaging | Adult | Female | Heredodegenerative Disorders, Nervous System - diagnostic imaging | Muscles - metabolism | Nuclear Proteins - genetics | Heredodegenerative Disorders, Nervous System - diagnosis | Nuclear Proteins - metabolism | Heredodegenerative Disorders, Nervous System - physiopathology | Genes, Recessive | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Magnetic Resonance Imaging | Phenotype | Cerebellar Ataxia - genetics | Aged | High-Throughput Nucleotide Sequencing | Cerebellar Ataxia - diagnosis | Index Medicus | Abridged Index Medicus | Life Sciences | Human health and pathology | Neurons and Cognition | Original
Journal Article
Acta neuropathologica, ISSN 0001-6322, 9/2014, Volume 128, Issue 3, pp. 397 - 410
Pathology | Neurosciences | Medicine & Public Health | FTLD | Rare variants | ALS | Sequestosome 1 | SQSTM1 | p62 | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Frontotemporal Lobar Degeneration - pathology | Genetic Predisposition to Disease - genetics | Meta-Analysis as Topic | Sequestosome-1 Protein | Europe | Humans | Middle Aged | Male | International Cooperation | DNA-Binding Proteins - genetics | Amyotrophic Lateral Sclerosis | Animals | DNA Mutational Analysis | Adaptor Proteins, Signal Transducing - genetics | Aged, 80 and over | Polymorphism, Single Nucleotide - genetics | Adult | Female | Aged | Frontotemporal Lobar Degeneration - genetics | Cohort Studies | Physiological aspects | Amyotrophic lateral sclerosis | Development and progression | Genetic aspects | Population genetics | Analysis | Index Medicus | Original Paper | Medicin och hälsovetenskap
Journal Article