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Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 56"
Page 1
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.
Durand CM, Dhers L, Tesson C, Tessa A, Fouillen L, Jacqueré S, Raymond L, Coupry I, Benard G, Darios F, El-Hachimi KH, Astrea G, Rivier F, Banneau G, Pujol C, Lacombe D, Durr A, Babin PJ, Santorelli FM, Pietrancosta N, Boucher JL, Mansuy D, Stevanin G, Goizet C. Durand CM, et al. Hum Mutat. 2018 Jan;39(1):140-151. doi: 10.1002/humu.23359. Epub 2017 Nov 11. Hum Mutat. 2018. PMID: 29034544 Free article.
Hereditary spastic paraplegia (HSP) is an inherited disorder of the central nervous system mainly characterized by gradual spasticity and weakness of the lower limbs. ...We also showed that functional data do not necessarily correlate with in silico predic …
Hereditary spastic paraplegia (HSP) is an inherited disorder of the central nervous system mainly characterized by grad …
Toe Walking: A Neurological Perspective After Referral From Pediatric Orthopaedic Surgeons.
Haynes KB, Wimberly RL, VanPelt JM, Jo CH, Riccio AI, Delgado MR. Haynes KB, et al. J Pediatr Orthop. 2018 Mar;38(3):152-156. doi: 10.1097/BPO.0000000000001115. J Pediatr Orthop. 2018. PMID: 29309384
Final pathologic diagnoses were: 37% (40/108) previously undiagnosed cerebral palsy (CP), 16.7% (18/108) peripheral neuropathy, 15.7% (17/108) autism spectrum disorder, 13.9% (15/108) hereditary spastic paraparesis, 8.3% (9/108) attention deficit hyperactivity disor …
Final pathologic diagnoses were: 37% (40/108) previously undiagnosed cerebral palsy (CP), 16.7% (18/108) peripheral neuropathy, 15.7% (17/10 …
Cerebrospinal Fluid Neurofilaments May Discriminate Upper Motor Neuron Syndromes: A Pilot Study.
Zucchi E, Bedin R, Fasano A, Fini N, Gessani A, Vinceti M, Mandrioli J. Zucchi E, et al. Neurodegener Dis. 2018;18(5-6):255-261. doi: 10.1159/000493986. Epub 2018 Nov 14. Neurodegener Dis. 2018. PMID: 30428468
BACKGROUND: Patients presenting with upper motor neuron (UMN) signs may widely diverge in prognosis, ranging from amyotrophic lateral sclerosis (ALS) to primary lateral sclerosis (PLS) and hereditary spastic paraplegia (hSP). Neurofilaments are emergin …
BACKGROUND: Patients presenting with upper motor neuron (UMN) signs may widely diverge in prognosis, ranging from amyotrophic lateral …
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X, Zhang L, Wu Y, Li G, Chen S, Xia Y, Li H. Zhang X, et al. BMC Neurol. 2018 Nov 29;18(1):196. doi: 10.1186/s12883-018-1199-9. BMC Neurol. 2018. PMID: 30497413 Free PMC article.
BACKGROUND: Autosomal recessive hereditary spastic paraplegias (ARHSPs) are a group of clinically and genetically heterogeneous neurodegenerative diseases with progressive spasticity and weakness in the lower limbs. Mutations in the Spastic Paraplegia …
BACKGROUND: Autosomal recessive hereditary spastic paraplegias (ARHSPs) are a group of clinically and genetically heterogeneou …
Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families.
Coutinho P, Barros J, Zemmouri R, Guimarães J, Alves C, Chorão R, Lourenço E, Ribeiro P, Loureiro JL, Santos JV, Hamri A, Paternotte C, Hazan J, Silva MC, Prud'homme JF, Grid D. Coutinho P, et al. Arch Neurol. 1999 Aug;56(8):943-9. doi: 10.1001/archneur.56.8.943. Arch Neurol. 1999. PMID: 10448799
BACKGROUND: Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by progressive and predominant spasticity of the lower limbs, in which dominant, recessive, and X-linked forms have been described. ...Pyramidal …
BACKGROUND: Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by pr …