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1 ure, renal and splenic microinfarctions, and paraplegia.
2 gene mutated in a form of hereditary spastic paraplegia.
3 mutated in the axonopathy hereditary spastic paraplegia.
4 ith the clinical phenomenon of delayed onset paraplegia.
5 oo-common clinical syndrome of delayed-onset paraplegia.
6 hic lateral sclerosis and hereditary spastic paraplegia.
7 ble immediate treatment to prevent permanent paraplegia.
8 the morbidity and mortality associated with paraplegia.
9 g endograft treatment suffered postoperative paraplegia.
10 common autosomal dominant hereditary spastic paraplegia.
11 sal treatment strategy in hereditary spastic paraplegia.
12 clinical presentation of progressive spastic paraplegia.
13 the chief gene mutated in hereditary spastic paraplegia.
14 complex but virtually eliminates the risk of paraplegia.
15 w" is simple but has an unacceptable risk of paraplegia.
16 ith a 50% probability of resultant permanent paraplegia.
17 with 22/38 (6.6% of cohort) sustaining total paraplegia.
18 pass support (P =.0005) were associated with paraplegia.
19 nd is associated with a reduced incidence of paraplegia.
20 e KIF5A, in a family with hereditary spastic paraplegia.
21 to phenotypes resembling hereditary spastic paraplegia.
22 rectly over the posterior cortex resulted in paraplegia.
23 mild Pelizaeus-Merzbacher disease or spastic paraplegia.
24 ed, and there were no instances of stroke or paraplegia.
25 ers such as Pelizaeus-Merzbacher and spastic paraplegia.
26 r spinal cord, remove macroglia, and produce paraplegia.
27 xia, Wilson's disease and hereditary spastic paraplegia.
28 e show progressive motor symptoms, a spastic paraplegia.
29 system for understanding hereditary spastic paraplegia.
30 e most frequent metabolic hereditary spastic paraplegia.
31 ighting the genetic heterogeneity of spastic paraplegia.
32 stent with a diagnosis of hereditary spastic paraplegia.
33 neuron diseases, such as hereditary spastic paraplegia.
34 ctor to early autonomic symptoms and spastic paraplegia.
35 ental defects and a familial form of spastic paraplegia.
36 n associated with a familial form of spastic paraplegia.
37 the most common cause of hereditary spastic paraplegia.
38 a diverse set of complex hereditary spastic paraplegias.
41 ice-site) associated with hereditary spastic paraplegia 4 (HSP-SPG4) (SPG4:OMIM#182601) has suggested
42 ns in which cause autosomal-dominant spastic paraplegia 4 [SPG4]) have been described, their origins
43 d a necessary and conserved role for spastic paraplegia 7 (SPG7) in Ca(2+)- and ROS-induced PTP openi
44 dity included rupture (4.7%), stroke (4.7%), paraplegia (8.5%), bowel ischemia (7%), acute renal fail
45 p-Feil syndrome (8q22.2), hereditary spastic paraplegia (8q24), and benign adult familial myoclonic e
46 PG5) is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous group of neurodegener
47 with various subtypes of hereditary spastic paraplegia, a highly heterogeneous group of neurodegener
48 entified in patients with hereditary spastic paraplegias, a diverse group of neurological disorders c
50 tations in AP5Z1 and presenting with spastic paraplegia accompanied by neuropathy, parkinsonism and/o
51 Autosomal-dominant pure hereditary spastic paraplegia (AD-HSP) is characterized by the degeneration
53 h autosomal dominant pure hereditary spastic paraplegia (ADPHSP), to examine the relative frequency o
54 ic occlusion is critical in the mechanism of paraplegia after aortic cross-clamping and may provide t
58 many candidate genes for hereditary spastic paraplegia also have central roles in lipid-droplet form
60 n genes usually associated with pure spastic paraplegia and also in the Parkinson's disease-associate
61 , we screened a cohort of hereditary spastic paraplegia and cerebellar ataxia cases (n = 618) for mut
64 ease the risk of spinal cord ischemia and/or paraplegia and consists of permissive hypertension after
65 gene data could explain a report of spastic paraplegia and dementia cosegregating in a family with d
66 who presented with bilateral lower extremity paraplegia and development of rhabdomyolysis of the para
68 suffering from SPG4-type hereditary spastic paraplegia and explain why single amino acid exchanges l
72 infantile-onset ascending hereditary spastic paraplegia and juvenile primary lateral sclerosis, sugge
74 intellectual disability, progressive spastic paraplegia and short stature, born to a consanguineous f
77 ovement disorders such as hereditary spastic paraplegias and cerebellar ataxias remain genetically un
78 frontotemporal dementia, hereditary spastic paraplegia, and 1-2% of familial amyotrophic lateral scl
81 um hypoplasia, retardation, aphasia, spastic paraplegia, and hydrocephalus), and L1 knock-out mice di
83 ated in the human disease hereditary spastic paraplegia, and its link to WASH suggests that misregula
85 neurodegenerative disease hereditary spastic paraplegia, and of ichthyin, mutated in autosomal recess
86 c neuropathy, complicated hereditary spastic paraplegia, and select hereditary metabolic neuropathies
88 on locus for mutations in hereditary spastic paraplegias, and katanin are related microtubule-severin
89 ta, rates of procedural success, stroke, and paraplegia appeared similar, while those for major compl
96 s and autosomal recessive hereditary spastic paraplegias (ARHSPs) are clinically and genetically hete
98 as a complicated form of hereditary spastic paraplegia, associated with mutation in the ethanolamine
100 ave been shown to cause a Hereditary Spastic Paraplegia called NTE-related Motor-Neuron Disorder.
101 axons, and support a model in which spastic paraplegia can be caused by impairment of axonal the SER
102 G)1 to -57], over half of hereditary spastic paraplegia cases are caused by pathogenic mutations in f
103 is an autosomal recessive hereditary spastic paraplegia caused by mutation in the spartin (SPG20) gen
104 Mutations in PNPLA6 also cause human spastic paraplegia characterized by motor neuron degeneration.
105 ous female member were affected with spastic paraplegia characterized by relatively late onset and mi
109 hese patients included dementia with spastic paraplegia, corticobasal degeneration syndrome, and stro
110 linked to diseases such as familial spastic paraplegia, developmental delay with premature death, an
114 sorders, particularly the hereditary spastic paraplegias, emphasizing the importance of proper ER mor
115 veral causative genes for hereditary spastic paraplegia encode proteins with intramembrane hairpin lo
123 ommon autosomal recessive hereditary spastic paraplegia gene products, the SPG15 protein spastizin an
126 s in a number of other known complex spastic paraplegia genes, including five in SPG7 (5/97), four in
127 ore, the life expectancy of individuals with paraplegia has increased to near that of able-bodied ind
130 our experience, no episodes of postoperative paraplegia have occurred with the use of this technique.
132 scular diseases including hereditary spastic paraplegia, hereditary sensory neuropathy type 1, and no
133 milar problems that cause hereditary spastic paraplegia (HSP) and Charcot-Marie-Tooth type 2 (CMT2) d
134 and lower motor neurons, hereditary spastic paraplegia (HSP) and distal hereditary motor neuropathy
135 al recessive (AR) complex hereditary spastic paraplegia (HSP) and juvenile onset amyotrophic lateral
138 is an autosomal recessive hereditary spastic paraplegia (HSP) caused by frameshift mutations in the S
148 mal recessive complicated hereditary spastic paraplegia (HSP) that occurs with high frequency in the
151 rumpellin, or REEP1 cause hereditary spastic paraplegia (HSP), a disease characterized by axonal dege
152 utosomal dominant form of hereditary spastic paraplegia (HSP), a motor-neurological disorder manifest
153 ranched ER morphology and hereditary spastic paraplegia (HSP), a neurodegenerative disease characteri
154 the most common cause of hereditary spastic paraplegia (HSP), a neurodegenerative disease that affli
155 n patients suffering from hereditary spastic paraplegia (HSP), a neurodegenerative disorder affecting
156 ns of various genes cause hereditary spastic paraplegia (HSP), a neurological disease involving dying
157 ve been reported to cause hereditary spastic paraplegia (HSP), although their impact at the cellular
159 e-Tooth disease (CMT) and Hereditary Spastic Paraplegia (HSP), but the mechanism of its involvement i
179 ly of genes implicated in hereditary spastic paraplegias (HSPs) is quickly expanding, mostly owing to
191 duration of ischemia that produces permanent paraplegia in 50% of the animals in a group) of the cont
194 far the most common cause of complex spastic paraplegia in the UK, with severe and progressive clinic
196 ures, severe developmental delay and spastic paraplegia, in whom whole-genome sequencing revealed com
197 013) on acute complicated type B AD, stroke, paraplegia, in-hospital mortality and follow-up mortalit
199 RMS in three unrelated patients with spastic paraplegia, intellectual disability, nystagmus, and obes
202 pure, autosomal dominant hereditary spastic paraplegia is caused by mutation in the ATL1 gene encodi
203 rm of autosomal recessive hereditary spastic paraplegia is caused by mutations in the SPG11/KIAA1840
205 as either 'pure' or 'complex' where spastic paraplegia is complicated with additional neurological f
206 er limb spasticity, or complex where spastic paraplegia is complicated with additional neurological f
208 lity and morbidity associated with permanent paraplegia justifies the risks and uncertainties associa
211 inary retention as prodromes of irreversible paraplegia may allow earlier diagnosis and treatment in
212 ossibly of other forms of hereditary spastic paraplegia may involve perturbation of neuronal anterogr
213 uscular hypotonia that progressed to spastic paraplegia, microcephaly, foot deformity, decreased musc
216 ces similar phenotypes of hereditary spastic paraplegia (mitochondrial dysfunction and defects in lip
217 al defects of an atypical hereditary spastic paraplegia mutant, ATL1-F151S, that is impaired in its n
229 low (ERPF) measurements in 197 patients with paraplegia or quadriplegia performed over a 21-y period,
231 nction were more likely to have irreversible paraplegia (P < 0.01), despite presenting with a monopha
232 0.01]) retained independent association with paraplegia-paraparesis after multivariate analysis.
233 . 22 minutes, P <.0001) and a higher rate of paraplegia/paresis (30% vs. 2%, P =.01) as compared to t
235 hts into the pathology of hereditary spastic paraplegia, particularly how mutations in multiple, conv
236 linico-genetic work-up of hereditary spastic paraplegia, particularly in dominant cases, as the assoc
240 sonism, muscle weakness, neuropathy, spastic paraplegia, personality/behavioral problems, and dystoni
241 fied as a complex form of hereditary spastic paraplegia, present in families from Kuwait, Italy and t
242 nstration of a role for a hereditary spastic paraplegia protein or ichthyin family member in a specif
243 2) and Bhlhb5 (mutated in Hereditary Spastic Paraplegia), providing a molecular handle to investigate
245 ogression rate of 0.56 points on the Spastic Paraplegia Rating Scale per year was slightly lower than
248 eries of 97 index cases with complex spastic paraplegia referred to a tertiary referral neurology cen
252 ment, and the postoperative complications of paraplegia, renal failure, and pulmonary insufficiency.
253 ariables including congestive heart failure, paraplegia, reoperation, dyspnea at rest, nongastric ban
255 metabolism account for approximately 80% of paraplegia risk and intercostal blood flow accounts for
256 al aneurysm repair for factors that affected paraplegia risk including aneurysm extent, acuity, cardi
259 (IRP) using a highly accurate (r(2) > 0.88) paraplegia risk index we developed and published previou
261 previously demonstrated an 80% reduction in paraplegia risk using hypothermia, naloxone, steroids, s
262 erging field support this prediction of high paraplegia risk with thoracoabdominal branched endograft
263 f other diseases--including familial spastic paraplegia, schizophrenia, bipolar affective disorder an
264 injuries has reduced the rates of death and paraplegia seen with open surgical treatment in the past
269 drome, and three forms of hereditary spastic paraplegia, SPG11, SPG15 and SPG49 caused by SPG11, ZFYV
270 s cause specific types of hereditary spastic paraplegia (SPG28 and SPG54, respectively), and the yeas
271 ntified in both a form of hereditary spastic paraplegia (SPG35) and a progressive familial leukodystr
275 es disease mechanisms for hereditary spastic paraplegia that involve dependence of the microtubule cy
276 osis and its differentiation from hysterical paraplegia, the second transverse myelitis and its conse
278 Motor signs developed ascending from spastic paraplegia to tetraplegia and pseudobulbar palsy in the
280 Using a mouse model of hereditary spastic paraplegia type 2 due to a null mutation of the myelin P
282 estigation; recent studies show that spastic paraplegia type 5, a progressive neuropathy, is caused b
285 ns cause a common form of hereditary spastic paraplegia, we suggest ER-shaping defects as a neuropath
286 utosomal dominant form of hereditary spastic paraplegia, which is a retrograde axonopathy primarily c
287 the use of bypass, no CI/R patient developed paraplegia, while all CI/R patients experienced parapleg
288 paired via clamp-and-sew technique developed paraplegia, while none of the seven CI/R patients repair
289 s with adult onset leukodystrophy or spastic paraplegia with early onset of urinary symptoms and spin
290 , and predominant complex hereditary spastic paraplegia with marked cognitive impairment, without any
291 ed to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal peripher
292 se of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and peripheral axon
293 ings were neurogenic bladder (100%), spastic paraplegia with vibration loss (90%), and axonal neuropa
294 set, slowly progressive, complicated spastic paraplegia, with normal or near-normal psychomotor devel
295 centrifugal pump to reduce the incidence of paraplegia without the risk of systemic anticoagulation
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