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Human Molecular Genetics, ISSN 0964-6906, 03/2019, Volume 28, Issue 6, pp. 961 - 971
Abstract Spastic paraplegia gene 11(SPG11)-linked hereditary spastic paraplegia is a complex monogenic neurodegenerative disease that in addition to spastic... 
PLURIPOTENT STEM-CELLS | SPASTIC PARAPLEGIA | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | NEURONS | SPATACSIN | MODEL | MUTATIONS | SPECTRUM | General
Journal Article
AMERICAN JOURNAL OF NEURORADIOLOGY, ISSN 0195-6108, 01/2019, Volume 40, Issue 1, pp. 199 - 203
BACKGROUND AND PURPOSE: The "ears of the lynx" MR imaging sign has been described in case reports of hereditary spastic paraplegia with a thin corpus callosum,... 
PHENOTYPES | PATIENT | MUTATIONS | SPATACSIN | SPECTRUM | THIN CORPUS-CALLOSUM | NEUROIMAGING | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | CLINICAL NEUROLOGY
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 07/2018, Volume 27, Issue 14, pp. 2517 - 2530
Abstract Mechanisms by which long corticospinal axons degenerate in hereditary spastic paraplegia (HSP) are largely unknown. Here, we have generated induced... 
PLURIPOTENT STEM-CELLS | TRANSPORT | FUSION | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | GENETICS & HEREDITY | NEURONS | SPG15 | SPATACSIN | MUTATIONS | FISSION | CYTOCHROME-C RELEASE | Index Medicus
Journal Article
NEUROLOGICAL SCIENCES, ISSN 1590-1874, 09/2018, Volume 39, Issue 9, pp. 1547 - 1550
Dysarthrophonia is often reported by hereditary spastic paraplegia (HSP) patients with SPG11 mutations but it has been poorly investigated. The goal of this... 
Hereditary spastic paraplegia | Dysarthrophonia | Acoustics | Electroglottography | SPATACSIN | NEUROSCIENCES | CLINICAL NEUROLOGY
Journal Article
Journal Article
Annals of Neurology, ISSN 0364-5134, 05/2016, Volume 79, Issue 5, pp. 826 - 840
Objective: Mutations in the spastic paraplegia gene 11 (SPG11), encoding spatacsin, cause the most frequent form of autosomal-recessive complex hereditary... 
CYTOKINESIS | DEFECTS | GENE | HEREDITARY SPASTIC PARAPLEGIA | PROLIFERATION | SPATACSIN | MUTATIONS | THIN CORPUS-CALLOSUM | SPG11 | NEUROSCIENCES | PROGRESSION | CLINICAL NEUROLOGY
Journal Article
Brain, ISSN 0006-8950, 07/2016, Volume 139, Issue 7, pp. 1904 - 1918
Journal Article
Journal Article
Journal Article
Autophagy, ISSN 1554-8627, 01/2019, Volume 15, Issue 1, pp. 34 - 57
ZFYVE26/Spastizin and SPG11/Spatacsin encode 2 large proteins that are mutated in hereditary autosomal-recessive spastic paraplegia/paraparesis (HSP) type 15... 
RAB11 | AR-SPG11 | ZFYVE26 | autophagy | endocytosis | RAB5A | SPG11 | AR-SPG15 | autophagosome-endosome fusion | COMPLEX | RAB5 | SPATACSIN | MATURATION | CELL BIOLOGY | MULTIVESICULAR BODIES | EARLY ENDOSOMES | PROTEINS | THIN CORPUS-CALLOSUM | EGF RECEPTOR
Journal Article
Human Mutation, ISSN 1059-7794, 02/2018, Volume 39, Issue 2, pp. 193 - 196
Single‐nucleotide variants that abolish the stop codon (“nonstop” alterations) are a unique type of substitution in genomic DNA. Whether they confer... 
REEP1 | motor neuron disorder | hereditary spastic paraplegia | aggregation | Charcot‐Marie‐Tooth disease | nonstop variant | hereditary motor neuropathy | Charcot-Marie-Tooth disease | CRYPTIC AMYLOIDOGENIC ELEMENTS | SPASTIC PARAPLEGIA | GENETICS & HEREDITY | MUTATIONS | SPATACSIN
Journal Article