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Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 51"
Page 1
GCH1 mutations in hereditary spastic paraplegia.
Varghaei P, Yoon G, Estiar MA, Veyron S, Leveille E, Dupré N, Trempe JF, Rouleau GA, Gan-Or Z. Varghaei P, et al. Clin Genet. 2021 Jul;100(1):51-58. doi: 10.1111/cge.13955. Epub 2021 Mar 18. Clin Genet. 2021. PMID: 33713342
Recently, GCH1 mutations have been reported in five patients with hereditary spastic paraplegia (HSP). Here, we analyzed a total of 400 HSP patients (291 families) from different centers across Canada by whole exome sequencing (WES). ...(Ser77_Leu82del) varia …
Recently, GCH1 mutations have been reported in five patients with hereditary spastic paraplegia (HSP). Here, we analyze …
Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients.
Du J. Du J. J Clin Neurosci. 2021 Mar;85:67-71. doi: 10.1016/j.jocn.2020.11.036. Epub 2021 Jan 15. J Clin Neurosci. 2021. PMID: 33581793
Hereditary spastic paraplegia type 11 (SPG11) is the most common subtype of autosomal recessive hereditary spastic paraplegia (HSP), to date, there are more than 181 different KIAA1840 gene mutations detected, and yet the genetic landscap …
Hereditary spastic paraplegia type 11 (SPG11) is the most common subtype of autosomal recessive hereditary sp …
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, Brandner S, Xiromerisiou G, Wiethoff S, Schottlaender L, Proukakis C, Morris H, Warner T, Bhatia KP, Korlipara LV, Singleton AB, Hardy J, Wood NW, Lewis PA, Houlden H. Kara E, et al. Brain. 2016 Jul;139(Pt 7):1904-18. doi: 10.1093/brain/aww111. Epub 2016 May 23. Brain. 2016. PMID: 27217339 Free PMC article.
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower limb spasticity, or complex where spastic paraplegia is complicated with additional neurological …
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as eithe …
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.
Yogev Y, Perez Y, Noyman I, Madegem AA, Flusser H, Shorer Z, Cohen E, Kachko L, Michaelovsky A, Birk R, Koifman A, Drabkin M, Wormser O, Halperin D, Kadir R, Birk OS. Yogev Y, et al. Eur J Hum Genet. 2017 Aug;25(8):966-972. doi: 10.1038/ejhg.2017.85. Epub 2017 May 10. Eur J Hum Genet. 2017. PMID: 28488683 Free PMC article.
Twelve individuals of consanguineous Bedouin kindred presented with autosomal recessive progressive spastic paraplegia evident as of age 0-24 months, with spasticity of lower limbs, hyperreflexia, toe walking and equinus deformity. ...Genome-wide linkage analysis id …
Twelve individuals of consanguineous Bedouin kindred presented with autosomal recessive progressive spastic paraplegia evident …
Hereditary and idiopathic spastic paraparesis: preliminary findings of a single center experience.
Cui F, Sun L, Qiao J, Xiong J, Zhao Y, Li J, Li M, Chen S, Huang X. Cui F, et al. Neurol Res. 2018 Dec;40(12):1088-1093. doi: 10.1080/01616412.2018.1522412. Neurol Res. 2018. PMID: 30352018
OBJECTIVES: Hereditary spastic paraplegias (HSP) is a heterogeneous group of inherited neurologic disorders with diversified clinical manifestations. ...Reduced cognitive function was the most common manifestation (55.6%) of the complicated HSP patients. The mean di …
OBJECTIVES: Hereditary spastic paraplegias (HSP) is a heterogeneous group of inherited neurologic disorders with diversified c …
Magnetic resonance imaging in degenerative ataxic disorders.
Ormerod IE, Harding AE, Miller DH, Johnson G, MacManus D, du Boulay EP, Kendall BE, Moseley IF, McDonald WI. Ormerod IE, et al. J Neurol Neurosurg Psychiatry. 1994 Jan;57(1):51-7. doi: 10.1136/jnnp.57.1.51. J Neurol Neurosurg Psychiatry. 1994. PMID: 8301305 Free PMC article. Review.
Atrophy of intracranial structures was not seen in patients with the pure type of hereditary spastic paraplegia, or in early cases of Friedreich's ataxia. ...Cerebral white matter lesions, although usually few in number, were observed in significantly …
Atrophy of intracranial structures was not seen in patients with the pure type of hereditary spastic paraplegia, or in …
A Single-Sensor Approach to Quantify Gait in Patients with Hereditary Spastic Paraplegia.
van Gelder LMA, Bonci T, Buckley EE, Price K, Salis F, Hadjivassiliou M, Mazzà C, Hewamadduma C. van Gelder LMA, et al. Sensors (Basel). 2023 Jul 20;23(14):6563. doi: 10.3390/s23146563. Sensors (Basel). 2023. PMID: 37514857 Free PMC article.
Hereditary spastic paraplegia (HSP) is characterised by progressive lower-limb spasticity and weakness resulting in ambulation difficulties. During clinical practice, walking is observed and/or assessed by timed 10-metre walk tests; time, feasibility, …
Hereditary spastic paraplegia (HSP) is characterised by progressive lower-limb spasticity and weakness resulting in amb …
Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage.
Agosta F, Scarlato M, Spinelli EG, Canu E, Benedetti S, Bassi MT, Casali C, Sessa M, Copetti M, Pagani E, Comi G, Ferrari M, Falini A, Filippi M. Agosta F, et al. Radiology. 2015 Jul;276(1):207-18. doi: 10.1148/radiol.14141715. Epub 2015 Jan 22. Radiology. 2015. PMID: 25611737
PURPOSE: To investigate whether specific patterns of brain gray matter (GM) regional volumes and white matter (WM) microstructural abnormalities and spinal cord atrophy occur in patients with pure and complicated hereditary spastic paraplegias (HSPs). Relationships …
PURPOSE: To investigate whether specific patterns of brain gray matter (GM) regional volumes and white matter (WM) microstructural abnormali …
Functional and Clinical Outcomes of Combined Simultaneous Bilateral Anterior Distal Femoral Plate Hemiepiphysiodesis and Hamstrings Release in Management of Knee Flexion Contractures in Children With Neuromuscular Disorders.
Zaghloul A, Manoukian D, Barrett MC, Geronta I, Maizen C. Zaghloul A, et al. J Pediatr Orthop. 2021 Oct 1;41(9):559-565. doi: 10.1097/BPO.0000000000001942. J Pediatr Orthop. 2021. PMID: 34387232
Relevant demographics, Gross Motor Functional Classification Score and preoperative and postoperative knee flexion contractures and popliteal angles were documented. ...Diagnoses included cerebral palsy (n=16), Cornelia de Lange syndrome (n=1), hereditary spastic …
Relevant demographics, Gross Motor Functional Classification Score and preoperative and postoperative knee flexion contractures and p …
Spinal cord stimulation improves motor function and gait in spastic paraplegia type 4 (SPG4): Clinical and neurophysiological evaluation.
Pinto de Souza C, Coelho DB, Campos DDSF, Dos Santos Ghilardi MG, de Oliveira Vicente EC, González-Salazar C, Junior MCF, Barsottini OGP, Pedroso JL, Fonoff ET. Pinto de Souza C, et al. Parkinsonism Relat Disord. 2021 Feb;83:1-5. doi: 10.1016/j.parkreldis.2020.12.008. Epub 2020 Dec 15. Parkinsonism Relat Disord. 2021. PMID: 33385858
INTRODUCTION: Hereditary spastic paraplegia is a heterogeneous group of genetic disorders characterized by degeneration of the corticospinal tracts, coursing with progressive weakness and spasticity of the lower limbs. To date, there are no effective treatmen …
INTRODUCTION: Hereditary spastic paraplegia is a heterogeneous group of genetic disorders characterized by degeneration …
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