1.
Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8
by Ichinose, Yuta
Clinical neurology and neurosurgery, 2016, Vol.144, p.36-38
2.
Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia
by López, Eva
Neurogenetics, 2014, Vol.16 (2), p.97-105
3.
Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
by Oates, Emily C
American journal of human genetics, 2013, Vol.92 (6), p.965-973
4.
Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature
by JAMRA, Rami Abou
American journal of human genetics, 2011, Vol.88 (6), p.788-795
5.
A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1–12q14
by Wilkinson, P A
Journal of medical genetics, 2005, Vol.42 (1), p.80-82
6.
A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy
by Miyabayashi, Takuya
Journal of human genetics, 2019, Vol.64 (2), p.171-176
7.
Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 ( MCT8) Gene
by Schwartz, Charles E
American journal of human genetics, 2005, Vol.77 (1), p.41-53
8.
Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1
by Yamamoto-Shimojima, Keiko
Journal of human genetics, 2019, Vol.64 (7), p.665-671
9.
Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia
by Boukhris, Amir
American journal of human genetics, 2013, Vol.93 (1), p.118-123
10.
Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene
by Bayrakli, Fatih
Journal of human genetics, 2015, Vol.60 (12), p.763-768
11.
SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia
by Leveille, Etienne
Journal of human genetics, 2019, Vol.64 (11), p.1145-1151
12.
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23
by Lee, John Y.W
American journal of human genetics, 2017, Vol.100 (2), p.364-370
13.
Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia
by Martin, Elodie
American journal of human genetics, 2013, Vol.92 (2), p.238-244
14.
Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia
by Tesson, Christelle
American journal of human genetics, 2012, Vol.91 (6), p.1051-1064
15.
Cellular Pathways of Hereditary Spastic Paraplegia
by BLACKSTONE, Craig
Annual review of neuroscience, 2012, Vol.35 (1), p.25-47
16.
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment
by Koh, Kishin
Journal of human genetics, 2018, Vol.63 (9), p.1009-1013
17.
PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2
by INOUE, Ken
Neurogenetics, 2005, Vol.6 (1), p.1-16
18.
Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome
by Hanein, Sylvain
American journal of human genetics, 2008, Vol.82 (4), p.992-1002
19.
UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes
by Nan, Haitian
Journal of human genetics, 2019, Vol.64 (11), p.1055-1065
20.
Spartin Regulates Synaptic Growth and Neuronal Survival by Inhibiting BMP-Mediated Microtubule Stabilization
by Nahm, Minyeop
Neuron (Cambridge, Mass.), 2013, Vol.77 (4), p.680-695
