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European Journal of Human Genetics, ISSN 1018-4813, 09/2018, Volume 26, Issue 9, pp. 1388 - 1391
In most patients with intellectual disability (ID), the etiology is unknown, but lately several de novo variants have been associated with ID. One of the... 
PROTEIN | CUT | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | NEURONS | PREVALENCE | MUTATIONS | CHILDREN | Autism | Etiology | Intellectual disabilities | Epilepsy | Encephalopathy | Cognitive ability | Seizures | Brief Communication
Journal Article
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2018, Volume 26, Issue 10, pp. 1512 - 1520
An intact and dynamic microtubule cytoskeleton is crucial for the development, differentiation, and maintenance of the mammalian cortex. Variants in a host of... 
NEURODEGENERATIVE ENCEPHALOPATHY | SPINAL MUSCULAR-ATROPHY | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | ISLANDS | MUTATIONS | TUBULIN | Neuroimaging | Phenotypes | Neurodegenerative diseases | Cortex | Chaperones | Survival | Patients | Genetic counseling | Tubulin | Magnetic resonance imaging | Neurodegeneration | Encephalopathy | Cytoskeleton
Journal Article
Journal Article
Human mutation, ISSN 1059-7794, 2018, Volume 39, Issue 5, pp. 621 - 634
Journal Article
ENVIRONMENTAL HEALTH PERSPECTIVES, ISSN 0091-6765, 05/2009, Volume 117, Issue 5, pp. 703 - 708
BACKGROUND: C-60 fullerenes and single-walled carbon nanotubes (SWCNT) are projected to be used in medicine and consumer products with potential human... 
DIESEL EXHAUST PARTICLES | TRANSLOCATION | PULMONARY TOXICITY | DNA damage | nanoparticle | KAPPA-B | DNA repair | LUNG-CANCER | NANOPARTICLES | ENVIRONMENTAL SCIENCES | PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH | GENE-EXPRESSION | 8-OXO-7,8-DIHYDRO-2'-DEOXYGUANOSINE EXCRETION | TOXICOLOGY | STRESS | oxidative stress | MOUSE LUNG
Journal Article
Ugeskrift for laeger, 04/2019, Volume 181, Issue 7A
New technology for genetic testing results in more precise diagnostics and individualised treatment but also identification of variants in genes with unknown... 
Journal Article
Neurology, ISSN 0028-3878, 05/2013, Volume 80, Issue 20, pp. 1908 - 1910
Journal Article
Neuropediatrics, ISSN 0174-304X, 10/2016, Volume 47, Issue 5, pp. 332 - 335
Abstract The hypomyelinating leukodystrophies (HMLs) encompass the X-linked Pelizaeus–Merzbacher disease (PMD) caused by PLP1 mutations and known as the... 
Short Communication | exome sequencing | Pelizaeus-Merzbacher disease | mitochondrial Hsp60 chaperonopathy | brain hypomyelination | HSP60 | GENE | PEDIATRICS | MERZBACHER-LIKE-DISEASE | CLINICAL NEUROLOGY | GJA12 MUTATIONS
Journal Article
Ugeskrift for Laeger, ISSN 0041-5782, 2017, Volume 179, Issue 16, pp. 1377 - 1381
Journal Article
CELLS, ISSN 2073-4409, 03/2019, Volume 8, Issue 3, p. 237
Mitochondrial DNA (mtDNA) replication is thought to be an integral part of exercise-training-induced mitochondrial adaptations. Thus, mtDNA level is often used... 
CAPACITY | mtDNA | mitochondria | WEIGHT-LOSS | INCREASES | mitochondrial biogenesis | DEFICIENCY | OXYGEN-UPTAKE | CELL BIOLOGY | BIOGENESIS | GENE | METABOLISM | ENZYMES | exercise training | PHYSICAL-ACTIVITY | skeletal muscle
Journal Article
European journal of medical genetics, ISSN 1769-7212, 04/2019, p. 103650
We present five Danish individuals with Hajdu-Cheney syndrome (HJCYS) (OMIM #102500), a rare multisystem skeletal disorder with distinctive facies, generalised... 
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 01/2015, Volume 19, Issue 1, pp. 69 - 71
A 10-year-old girl presented with exercise intolerance, learning difficulty, and muscle weakness in a limb girdle distribution. She had delayed achievement of... 
Journal Article