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Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 01/2015, Volume 74, Issue 1, pp. 15 - 24
Journal Article
Journal Article
The Journal of Pathology, ISSN 0022-3417, 01/2013, Volume 229, Issue 1, pp. 49 - 61
Journal Article
Journal of Neuroscience, ISSN 0270-6474, 01/2015, Volume 35, Issue 3, pp. 936 - 942
Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PCH) is an infantile SMA variant with additional manifestations, particularly severe microcephaly.... 
SMA-PCH (spinal muscular atrophy pontocerebellar hypoplasia) | APP | Neuronal migration | VRK1 | PHENOTYPE | DISORDERS | DEPLETION | IDENTIFICATION | NEUROSCIENCES | INTERACT | SIGNALING PATHWAY | neuronal migration | EXPRESSION | KINASES | Cell Cycle - genetics | Spinal Muscular Atrophies of Childhood - genetics | Developmental Disabilities - metabolism | Humans | Neurons - cytology | Developmental Disabilities - genetics | Intracellular Signaling Peptides and Proteins - metabolism | Cerebellum - abnormalities | Spinal Muscular Atrophies of Childhood - metabolism | Cerebral Cortex - cytology | Cell Movement - genetics | Cerebral Cortex - metabolism | Developmental Disabilities - pathology | Cerebellar Diseases - pathology | Nervous System Malformations - metabolism | Amyloid beta-Protein Precursor - metabolism | Neurons - metabolism | Nervous System Malformations - genetics | Intracellular Signaling Peptides and Proteins - genetics | Protein-Serine-Threonine Kinases - metabolism | Cerebellar Diseases - metabolism | Nervous System Malformations - pathology | Cerebellum - metabolism | Protein-Serine-Threonine Kinases - genetics | Spinal Muscular Atrophies of Childhood - pathology | Cerebellum - pathology | Magnetic Resonance Imaging | Amyloid beta-Protein Precursor - genetics | Animals | Cerebellar Diseases - genetics | Cell Line, Tumor | Mice | Index Medicus | Brief Communications
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 09/2018, Volume 46, Issue 16, pp. 8326 - 8346
Abstract Chronic low levels of survival motor neuron (SMN) protein cause spinal muscular atrophy (SMA). SMN is ubiquitously expressed, but the mechanisms... 
REPAIR | GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY | TRANSCRIPTIONAL PAUSE SITES | OCULOMOTOR APRAXIA TYPE-2 | R-LOOPS | SMN DEFICIENCY | ATAXIA | MUTATIONS | HELICASE | FINGER PROTEIN ZPR1 | RNA, Small Interfering - genetics | Spinal Muscular Atrophies of Childhood - genetics | Humans | Male | DNA Breaks, Double-Stranded | DNA-Binding Proteins - deficiency | Motor Neurons - pathology | RNA Helicases - physiology | RNA Interference | Cell Division | DNA-Activated Protein Kinase - genetics | Nuclear Proteins - deficiency | Survival of Motor Neuron 2 Protein - genetics | RNA Helicases - deficiency | Survival of Motor Neuron 1 Protein - genetics | Fibroblasts | RNA Helicases - genetics | Survival of Motor Neuron 2 Protein - deficiency | Nuclear Proteins - genetics | Nucleic Acid Conformation | DNA Helicases - genetics | DNA-Activated Protein Kinase - deficiency | Survival of Motor Neuron 1 Protein - physiology | Disease Models, Animal | DNA-Binding Proteins - physiology | RNA, Small Interfering - pharmacology | Cells, Cultured | DNA-Activated Protein Kinase - physiology | DNA Helicases - deficiency | DNA-Binding Proteins - genetics | Spinal Muscular Atrophies of Childhood - pathology | Motor Neurons - metabolism | Animals | Aged | Mice | Nuclear Proteins - physiology | DNA Damage | Nerve Degeneration | DNA Helicases - physiology | Genome Integrity, Repair and
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