Articles

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (494) 494
Publication (60) 60
Patent (38) 38
Data Set (31) 31
Book Chapter (7) 7
Conference Proceeding (3) 3
Book / eBook (2) 2
Book Review (2) 2
Magazine Article (2) 2
Trade Publication Article (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (241) 241
index medicus (166) 166
male (130) 130
neurosciences (117) 117
female (116) 116
animals (105) 105
mutation (98) 98
genetics & heredity (95) 95
clinical neurology (73) 73
parkinson's disease (73) 73
middle aged (72) 72
mice (65) 65
parkinson disease - genetics (62) 62
adult (61) 61
biochemistry & molecular biology (61) 61
disease models, animal (54) 54
gene (50) 50
aged (49) 49
rats (44) 44
alpha-synuclein (43) 43
genetics (43) 43
genetic aspects (42) 42
genotype (41) 41
nerve tissue proteins - genetics (41) 41
phenotype (41) 41
analysis (37) 37
adolescent (35) 35
molecular sequence data (35) 35
child (34) 34
genes (34) 34
neurodegeneration (34) 34
neurology (34) 34
medical genetics (33) 33
huntington disease - genetics (32) 32
nuclear proteins - genetics (32) 32
research (32) 32
mice, transgenic (31) 31
base sequence (30) 30
age of onset (28) 28
proteins (28) 28
mouse model (27) 27
alleles (26) 26
brain - pathology (26) 26
expression (26) 26
machado-joseph-disease (26) 26
spinocerebellar ataxia (26) 26
brain (25) 25
gene expression (25) 25
genetic predisposition to disease (25) 25
mutations (25) 25
pedigree (25) 25
dna mutational analysis (24) 24
genomics (24) 24
neurodegenerative diseases (24) 24
article (23) 23
huntington's chorea (23) 23
huntington's disease (23) 23
huntingtons-disease (23) 23
nerve tissue proteins - metabolism (23) 23
blasting (22) 22
brain - metabolism (22) 22
engineering elements and units (22) 22
general measures for producing and maintaining effectivefunctioning of machines or installations (22) 22
heating (22) 22
lighting (22) 22
mechanical engineering (22) 22
parkinsons-disease (22) 22
parkinson’s disease (22) 22
rodents (22) 22
thermal insulation in general (22) 22
weapons (22) 22
lewy bodies (21) 21
risk factors (21) 21
transgenic mice (21) 21
association (20) 20
disease (20) 20
gene frequency (20) 20
medicine (20) 20
neurons (20) 20
polymorphism, single nucleotide (20) 20
genetic research (19) 19
microbiology (19) 19
polyglutamine (19) 19
ataxin-3 (18) 18
machado-joseph disease - genetics (18) 18
neurons - metabolism (18) 18
parkinson disease - metabolism (18) 18
polymorphism, genetic (18) 18
protein (18) 18
biochemistry (17) 17
case-control studies (17) 17
child, preschool (17) 17
genetic engineering (17) 17
huntington disease - pathology (17) 17
life sciences (17) 17
machado-joseph disease (17) 17
abridged index medicus (16) 16
aged, 80 and over (16) 16
alpha-synuclein - genetics (16) 16
animal models (16) 16
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (553) 553
German (39) 39
French (23) 23
Portuguese (2) 2
Chinese (1) 1
Japanese (1) 1
Spanish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
by Rauch, Anita, Prof and Wieczorek, Dagmar, MD and Graf, Elisabeth, MSc and Wieland, Thomas, MSc and Endele, Sabine, PhD and Schwarzmayr, Thomas, MSc and Albrecht, Beate, MD and Bartholdi, Deborah, MD and Beygo, Jasmin, MSc and Di Donato, Nataliya, MD and Dufke, Andreas, MD and Cremer, Kirsten, MD and Hempel, Maja, MD and Horn, Denise, MD and Hoyer, Juliane, MD and Joset, Pascal, PhD and Röpke, Albrecht, PhD and Moog, Ute, MD and Riess, Angelika, MD and Thiel, Christian T, MD and Tzschach, Andreas, MD and Wiesener, Antje, MD and Wohlleber, Eva, MD and Zweier, Christiane, MD and Ekici, Arif B, PhD and Zink, Alexander M, MSc and Rump, Andreas, PhD and Meisinger, Christa, MD and Grallert, Harald, PhD and Sticht, Heinrich, PhD and Schenck, Annette, PhD and Engels, Hartmut, PhD and Rappold, Gudrun, Prof and Schröck, Evelin, Prof and Wieacker, Peter, Prof and Riess, Olaf, Prof and Meitinger, Thomas, Prof and Reis, André, Prof and Strom, Tim M, Dr
Lancet, The, ISSN 0140-6736, 2012, Volume 380, Issue 9854, pp. 1674 - 1682
Summary Background The genetic cause of intellectual disability in most patients is unclear because of the absence of morphological clues, information about... 
Internal Medicine | DELINEATION | MEDICINE, GENERAL & INTERNAL | DE-NOVO MUTATIONS | MENTAL-RETARDATION | VARIANTS | RECEPTOR | DEVELOPMENTAL DELAY | PATIENT | EPILEPSY | AUTISM SPECTRUM DISORDERS | NONSENSE MUTATION | Exome - genetics | Humans | Female | Male | Mutation - genetics | Child | Case-Control Studies | Intellectual Disability - genetics | Intelligence levels | Gene mutations | Intellect | Genetic aspects | Mental illness | Health aspects | Risk factors | Studies | Genetics | Mutation | Mental retardation
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology
by Ripperger, Tim and Bielack, Stefan S and Borkhardt, Arndt and Brecht, Ines B and Burkhardt, Birgit and Calaminus, Gabriele and Debatin, Klaus‐Michael and Deubzer, Hedwig and Dirksen, Uta and Eckert, Cornelia and Eggert, Angelika and Erlacher, Miriam and Fleischhack, Gudrun and Frühwald, Michael C and Gnekow, Astrid and Goehring, Gudrun and Graf, Norbert and Hanenberg, Helmut and Hauer, Julia and Hero, Barbara and Hettmer, Simone and von Hoff, Katja and Horstmann, Martin and Hoyer, Juliane and Illig, Thomas and Kaatsch, Peter and Kappler, Roland and Kerl, Kornelius and Klingebiel, Thomas and Kontny, Udo and Kordes, Uwe and Körholz, Dieter and Koscielniak, Ewa and Kramm, Christof M and Kuhlen, Michaela and Kulozik, Andreas E and Lamottke, Britta and Leuschner, Ivo and Lohmann, Dietmar R and Meinhardt, Andrea and Metzler, Markus and Meyer, Lüder H and Moser, Olga and Nathrath, Michaela and Niemeyer, Charlotte M and Nustede, Rainer and Pajtler, Kristian W and Paret, Claudia and Rasche, Mareike and Reinhardt, Dirk and Rieß, Olaf and Russo, Alexandra and Rutkowski, Stefan and Schlegelberger, Brigitte and Schneider, Dominik and Schneppenheim, Reinhard and Schrappe, Martin and Schroeder, Christopher and von Schweinitz, Dietrich and Simon, Thorsten and Sparber‐Sauer, Monika and Spix, Claudia and Stanulla, Martin and Steinemann, Doris and Strahm, Brigitte and Temming, Petra and Thomay, Kathrin and von Bueren, Andre O and Vorwerk, Peter and Witt, Olaf and Wlodarski, Marcin and Wössmann, Willy and Zenker, Martin and Zimmermann, Stefanie and Pfister, Stefan M and Kratz, Christian P
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2017, Volume 173, Issue 4, pp. 1017 - 1037
Heritable predisposition is an important cause of cancer in children and adolescents. Although a large number of cancer predisposition genes and their... 
hereditary cancer syndrome | genetic predisposition testing | genetic screening | genetic cancer predisposition | germline mutation | LI-FRAUMENI SYNDROME | ACUTE MYELOGENOUS LEUKEMIA | TUMOR-SUPPRESSOR GENE | ACUTE MYELOID-LEUKEMIA | TUBEROUS SCLEROSIS COMPLEX | BIALLELIC FANCD1/BRCA2 MUTATIONS | ACUTE LYMPHOBLASTIC-LEUKEMIA | GENETICS & HEREDITY | JUVENILE MYELOMONOCYTIC LEUKEMIA | FAMILIAL ADENOMATOUS POLYPOSIS | GASTROINTESTINAL STROMAL TUMORS | Hematologic Neoplasms - diagnosis | Gene Expression | Genetic Predisposition to Disease | Genetics, Medical - methods | History, 21st Century | Humans | Genetics, Medical - history | Hematologic Neoplasms - pathology | Neoplasms - diagnosis | Genetics, Medical - instrumentation | Focus Groups - methods | Genetic Counseling - ethics | Genetic Testing - methods | Syndrome | Societies, Medical - history | Neoplasms - genetics | Adolescent | Hematologic Neoplasms - genetics | Mutation | Neoplasm Proteins - genetics | Neoplasms - pathology | Child | Pediatrics | Cancer in children | Oncology | Society | Hematology | Cancer
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text 14-3-3 proteins in the nervous system
by Riess, Olaf and Holzmann, Carsten and Berg, Daniela
Nature Reviews Neuroscience, ISSN 1471-003X, 09/2003, Volume 4, Issue 9, pp. 752 - 762
14- 3- 3 proteins are abundantly expressed in the brain and have been detected in the cerebrospinal fluid of patients with different neurological disorders.... 
TAU-PROTEIN | EXPANDED POLYGLUTAMINE | ALZHEIMERS-DISEASE | ACTIVATES TRYPTOPHAN 5-MONOOXYGENASE | MULTIPLE SIGNALING PATHWAYS | CREUTZFELDT-JAKOB-DISEASE | ALPHA-SYNUCLEIN | CEREBROSPINAL-FLUID | NEUROSCIENCES | LEWY BODIES | SPORADIC PARKINSONS-DISEASE | Tyrosine 3-Monooxygenase - metabolism | Humans | Nervous System - metabolism | Nervous System - chemistry | Protein Isoforms - physiology | Tyrosine 3-Monooxygenase - genetics | Animals | Protein Isoforms - metabolism | Tyrosine 3-Monooxygenase - chemistry | Tyrosine 3-Monooxygenase - physiology | Nervous System - pathology | Protein Isoforms - chemistry | 14-3-3 Proteins | Apoptosis - physiology | Protein Isoforms - genetics
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis
by Schöls, Ludger and Bauer, Peter and Schmidt, Thorsten and Schulte, Thorsten and Riess, Olaf
Lancet Neurology, ISSN 1474-4422, 2004, Volume 3, Issue 5, pp. 291 - 304
Autosomal dominant cerebellar ataxias are hereditary neurodegenerative disorders that are known as spinocerebellar ataxias (SCA) in genetic nomenclature. In... 
NEURONAL INTRANUCLEAR INCLUSIONS | EXPANDED POLYGLUTAMINE | RESTLESS LEGS SYNDROME | CREB-BINDING PROTEIN | MACHADO-JOSEPH-DISEASE | SPINOCEREBELLAR-ATAXIA | DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY | TRINUCLEOTIDE REPEAT EXPANSION | CAG-REPEAT | HUNTINGTONS-DISEASE | CLINICAL NEUROLOGY | Neuropsychology - methods | Prevalence | Humans | Spinocerebellar Ataxias - classification | Spinocerebellar Ataxias - epidemiology | Genotype | Spinocerebellar Ataxias - physiopathology | Trinucleotide Repeats - genetics | Molecular Biology - methods | Incidence | Diagnostic Imaging - methods | Electrophysiology - methods | Cell Death | Models, Neurological | Disease Models, Animal | Genetic Linkage | Spinocerebellar Ataxias - genetics
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text International Charter of principles for sharing bio-specimens and data
by Mascalzoni, Deborah and Dove, Edward S and Rubinstein, Yaffa and Dawkins, Hugh J.S and Kole, Anna and Mccormack, Pauline and Woods, Simon and Riess, Olaf and Schaefer, Franz and Lochmüller, Hanns and Knoppers, Bartha M and Hansson, Mats and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Uppsala universitet and Institutionen för folkhälso- och vårdvetenskap and Centrum för forsknings- och bioetik
European Journal of Human Genetics, ISSN 1018-4813, 06/2015, Volume 23, Issue 6, pp. 721 - 728
There is a growing international agreement on the need to provide greater access to research data and bio-specimen collections to optimize their long-term... 
BROAD CONSENT | BIOBANKS | PRIVACY | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | ETHICS | Biomedical research | Data collections | Genomics | Bioethics | Patients | Charters | Ethics | Privacy | Researchers | Information sharing | Genetics | Agreements | Public health | Cancer | Hälsovetenskaper | Medical Ethics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinsk etik | Health Sciences
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights