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European Journal of Medical Genetics, ISSN 1769-7212, 12/2018, Volume 61, Issue 12, pp. 741 - 743
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2012, Volume 44, Issue 8, pp. 934 - 940
Journal Article
Neurology, ISSN 0028-3878, 10/2019, Volume 93, Issue 14, pp. e1360 - e1373
OBJECTIVETo better evaluate the imaging spectrum of subcortical heterotopic gray matter brain malformations (subcortical heterotopia [SUBH]), we systematically... 
Journal Article
Nature, ISSN 0028-0836, 01/2017, Volume 541, Issue 7635, pp. 87 - 91
XRCC1 is a molecular scaffold protein that assembles multiprotein complexes involved in DNA single-strand break repair(1,2). Here we show that biallelic... 
POLY(ADP-RIBOSE) POLYMERASE | CELLS | RATES | STRAND BREAK REPAIR | SPINOCEREBELLAR ATAXIA | REPLICATION | BASE EXCISION-REPAIR | GENE | DNA | MULTIDISCIPLINARY SCIENCES | DISEASE | Chromatin - metabolism | Humans | Adenosine Diphosphate Ribose - metabolism | DNA Repair Enzymes - genetics | Male | DNA Repair - genetics | DNA-Binding Proteins - deficiency | DNA Breaks, Single-Stranded | DNA-Binding Proteins - metabolism | Apraxias - congenital | Apraxias - genetics | DNA Repair Enzymes - metabolism | Poly (ADP-Ribose) Polymerase-1 - deficiency | Female | Ataxia - genetics | Cogan Syndrome - genetics | Cerebellum - metabolism | Phosphotransferases (Alcohol Group Acceptor) - genetics | Poly (ADP-Ribose) Polymerase-1 - metabolism | Cerebellar Ataxia - pathology | DNA-Binding Proteins - genetics | Interneurons - pathology | Cerebellum - pathology | Phosphotransferases (Alcohol Group Acceptor) - metabolism | Phenotype | Animals | Cerebellar Ataxia - genetics | Interneurons - metabolism | Pedigree | Axons - pathology | Alleles | Mice | Mutation | X-ray Repair Cross Complementing Protein 1 | Poly (ADP-Ribose) Polymerase-1 - genetics | Genetic aspects | Gene mutations | Health aspects | Cerebellar ataxia | Proteins | Studies | Genotype & phenotype | Disease | Fibroblasts | Ataxia | Peripheral neuropathy | Patients | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
EMBO Journal, ISSN 0261-4189, 06/2015, Volume 34, Issue 12, pp. 1612 - 1629
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 440 - 444, S1-2
Journal Article
Nature Genetics, ISSN 1061-4036, 01/2014, Volume 46, Issue 5, pp. 510 - 515
Journal Article
Human Mutation, ISSN 1059-7794, 04/2009, Volume 30, Issue 4, pp. 695 - 702
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 04/2018, Volume 14, Issue 4, p. e1007363
The hereditary spastic paraplegias (HSP) are a clinically and genetically heterogeneous group of disorders characterized by progressive lower limb spasticity.... 
INTELLECTUAL DISABILITY | RECESSIVE LOSS | COMPLEX-4 AP-4 | HEREDITARY SPASTIC PARAPLEGIA | ALZHEIMERS-DISEASE | CORPUS-CALLOSUM | ADAPTER | GENETICS & HEREDITY | VICI SYNDROME | AMYLOID PRECURSOR PROTEIN | AUTOPHAGY | Receptors, Glutamate - metabolism | Spastic Paraplegia, Hereditary - genetics | Spinal Cord - metabolism | Vesicular Transport Proteins - metabolism | Humans | Adaptor Protein Complex 4 - chemistry | Male | Adaptor Protein Complex 4 - genetics | Spastic Paraplegia, Hereditary - metabolism | Brain - metabolism | trans-Golgi Network - metabolism | Protein Aggregates - genetics | Spinal Cord - pathology | Adaptor Protein Complex 4 - deficiency | Female | Membrane Proteins - metabolism | Neurons - metabolism | Spastic Paraplegia, Hereditary - pathology | Protein Aggregation, Pathological - genetics | Disease Models, Animal | Adaptor Protein Complex Subunits - deficiency | Huntingtin Protein - metabolism | Mice, Inbred C57BL | Axons - metabolism | Behavior, Animal - physiology | Adaptor Protein Complex Subunits - chemistry | Huntingtin Protein - chemistry | Mice, Knockout | Animals | Brain - pathology | Mice | Huntingtin Protein - genetics | Mutation | Autophagy-Related Proteins - metabolism | Adaptor Protein Complex Subunits - genetics | Protein Aggregation, Pathological - metabolism | Development and progression | Genetic aspects | Diagnosis | Paralysis, Spastic | Visualization | Spinal cord | Neurosciences | Huntingtin | Funding | Intellectual disabilities | Genes | Neurobiology | Childrens health | Biology | Microcephaly | Autophagy | Proteins | Fibroblasts | Paralysis | Seizures | Phenotypes | Language disorders | Neurons | Spasticity | Corpus callosum | Golgi apparatus | Axons | Microencephaly | Skin | Dystrophy | Phagocytosis | Cytoplasm
Journal Article