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1 ighting the genetic heterogeneity of spastic paraplegia.
2 stent with a diagnosis of hereditary spastic paraplegia.
3 neuron diseases, such as hereditary spastic paraplegia.
4 cur in the perioperative period resulting in paraplegia.
5 ctor to early autonomic symptoms and spastic paraplegia.
6 ental defects and a familial form of spastic paraplegia.
7 dolescent-onset, isolated hereditary spastic paraplegia.
8 n associated with a familial form of spastic paraplegia.
9 the most common cause of hereditary spastic paraplegia.
10 and validated with two patients with chronic paraplegia.
11 ure, renal and splenic microinfarctions, and paraplegia.
12 gene mutated in a form of hereditary spastic paraplegia.
13 mutated in the axonopathy hereditary spastic paraplegia.
14 inked to SPG13, a form of hereditary spastic paraplegia.
15 ith the clinical phenomenon of delayed onset paraplegia.
16 oo-common clinical syndrome of delayed-onset paraplegia.
17 hic lateral sclerosis and hereditary spastic paraplegia.
18 lved in MND, particularly hereditary spastic paraplegia.
19 ble immediate treatment to prevent permanent paraplegia.
20 the morbidity and mortality associated with paraplegia.
21 g endograft treatment suffered postoperative paraplegia.
22 common autosomal dominant hereditary spastic paraplegia.
23 clinical presentation of progressive spastic paraplegia.
24 ) gene, which co-segregated with the spastic paraplegia.
25 complex but virtually eliminates the risk of paraplegia.
26 w" is simple but has an unacceptable risk of paraplegia.
27 ith a 50% probability of resultant permanent paraplegia.
28 with 22/38 (6.6% of cohort) sustaining total paraplegia.
29 pass support (P =.0005) were associated with paraplegia.
30 nd is associated with a reduced incidence of paraplegia.
31 e KIF5A, in a family with hereditary spastic paraplegia.
32 on was a pure lower limb predominant spastic paraplegia.
33 P1 can cause pure autosomal dominant spastic paraplegia.
34 sal treatment strategy in hereditary spastic paraplegia.
35 the chief gene mutated in hereditary spastic paraplegia.
36 e show progressive motor symptoms, a spastic paraplegia.
37 system for understanding hereditary spastic paraplegia.
38 e most frequent metabolic hereditary spastic paraplegia.
39 a diverse set of complex hereditary spastic paraplegias.
42 ice-site) associated with hereditary spastic paraplegia 4 (HSP-SPG4) (SPG4:OMIM#182601) has suggested
43 ns in which cause autosomal-dominant spastic paraplegia 4 [SPG4]) have been described, their origins
44 cellular activities (m-AAA) protease spastic paraplegia 7 (SPG7) has been recently implicated as eith
45 d a necessary and conserved role for spastic paraplegia 7 (SPG7) in Ca(2+)- and ROS-induced PTP openi
46 dity included rupture (4.7%), stroke (4.7%), paraplegia (8.5%), bowel ischemia (7%), acute renal fail
47 PG5) is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous group of neurodegener
48 with various subtypes of hereditary spastic paraplegia, a highly heterogeneous group of neurodegener
49 entified in patients with hereditary spastic paraplegias, a diverse group of neurological disorders c
51 tations in AP5Z1 and presenting with spastic paraplegia accompanied by neuropathy, parkinsonism and/o
52 atures of AP-4-associated hereditary spastic paraplegia across the age spectrum our results will faci
53 Autosomal-dominant pure hereditary spastic paraplegia (AD-HSP) is characterized by the degeneration
55 ic occlusion is critical in the mechanism of paraplegia after aortic cross-clamping and may provide t
60 many candidate genes for hereditary spastic paraplegia also have central roles in lipid-droplet form
62 n genes usually associated with pure spastic paraplegia and also in the Parkinson's disease-associate
63 , we screened a cohort of hereditary spastic paraplegia and cerebellar ataxia cases (n = 618) for mut
66 se gene for a new complex hereditary spastic paraplegia and confirm that etherlipid homeostasis is im
67 ease the risk of spinal cord ischemia and/or paraplegia and consists of permissive hypertension after
68 gene data could explain a report of spastic paraplegia and dementia cosegregating in a family with d
69 who presented with bilateral lower extremity paraplegia and development of rhabdomyolysis of the para
71 suffering from SPG4-type hereditary spastic paraplegia and explain why single amino acid exchanges l
75 infantile-onset ascending hereditary spastic paraplegia and juvenile primary lateral sclerosis, sugge
76 ith an autosomal dominant hereditary spastic paraplegia and lacking mutations in known hereditary spa
78 intellectual disability, progressive spastic paraplegia and short stature, born to a consanguineous f
81 candidate key pathway for hereditary spastic paraplegias and cerebellar ataxias and thus prioritize t
82 ovement disorders such as hereditary spastic paraplegias and cerebellar ataxias remain genetically un
83 s with autosomal dominant hereditary spastic paraplegias and lacking mutations in known causative gen
85 frontotemporal dementia, hereditary spastic paraplegia, and 1-2% of familial amyotrophic lateral scl
89 ated in the human disease hereditary spastic paraplegia, and its link to WASH suggests that misregula
91 neurodegenerative disease hereditary spastic paraplegia, and of ichthyin, mutated in autosomal recess
93 c neuropathy, complicated hereditary spastic paraplegia, and select hereditary metabolic neuropathies
95 on locus for mutations in hereditary spastic paraplegias, and katanin are related microtubule-severin
96 leads to childhood-onset hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG
97 ta, rates of procedural success, stroke, and paraplegia appeared similar, while those for major compl
104 s and autosomal recessive hereditary spastic paraplegias (ARHSPs) are clinically and genetically hete
106 as a complicated form of hereditary spastic paraplegia, associated with mutation in the ethanolamine
108 ave been shown to cause a Hereditary Spastic Paraplegia called NTE-related Motor-Neuron Disorder.
109 axons, and support a model in which spastic paraplegia can be caused by impairment of axonal the SER
110 G)1 to -57], over half of hereditary spastic paraplegia cases are caused by pathogenic mutations in f
111 ols of previously unknown hereditary spastic paraplegia causative genes and subtypes, we performed wh
112 is an autosomal recessive hereditary spastic paraplegia caused by mutation in the spartin (SPG20) gen
113 Mutations in PNPLA6 also cause human spastic paraplegia characterized by motor neuron degeneration.
117 hese patients included dementia with spastic paraplegia, corticobasal degeneration syndrome, and stro
118 linked to diseases such as familial spastic paraplegia, developmental delay with premature death, an
122 sorders, particularly the hereditary spastic paraplegias, emphasizing the importance of proper ER mor
123 veral causative genes for hereditary spastic paraplegia encode proteins with intramembrane hairpin lo
128 ommon autosomal recessive hereditary spastic paraplegia gene products, the SPG15 protein spastizin an
131 s in a number of other known complex spastic paraplegia genes, including five in SPG7 (5/97), four in
132 taxia type 2, ataxia telangiectasia, spastic paraplegia, giant axonal neuropathy, and fumarate hydrat
133 ore, the life expectancy of individuals with paraplegia has increased to near that of able-bodied ind
135 our experience, no episodes of postoperative paraplegia have occurred with the use of this technique.
137 scular diseases including hereditary spastic paraplegia, hereditary sensory neuropathy type 1, and no
138 neurodegeneration, FAHN), hereditary spastic paraplegia (HSP type SPG35) and leukodystrophy (leukodys
140 milar problems that cause hereditary spastic paraplegia (HSP) and Charcot-Marie-Tooth type 2 (CMT2) d
141 and lower motor neurons, hereditary spastic paraplegia (HSP) and distal hereditary motor neuropathy
142 al recessive (AR) complex hereditary spastic paraplegia (HSP) and juvenile onset amyotrophic lateral
145 is an autosomal recessive hereditary spastic paraplegia (HSP) caused by frameshift mutations in the S
147 e-Tooth type 2 (CMT2) and Hereditary Spastic Paraplegia (HSP) depending on the affected neurons: peri
150 tosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geog
157 es of Atlastin-1 found in Hereditary Spastic Paraplegia (HSP) patients show similar ER phenotypes, su
161 rumpellin, or REEP1 cause hereditary spastic paraplegia (HSP), a disease characterized by axonal dege
162 ative diseases, including hereditary spastic paraplegia (HSP), a disorder characterized by spasticity
163 utosomal dominant form of hereditary spastic paraplegia (HSP), a motor-neurological disorder manifest
164 ranched ER morphology and hereditary spastic paraplegia (HSP), a neurodegenerative disease characteri
165 the most common cause of hereditary spastic paraplegia (HSP), a neurodegenerative disease that affli
166 n patients suffering from hereditary spastic paraplegia (HSP), a neurodegenerative disorder affecting
167 ns of various genes cause hereditary spastic paraplegia (HSP), a neurological disease involving dying
168 ve been reported to cause hereditary spastic paraplegia (HSP), although their impact at the cellular
170 have been associated with hereditary spastic paraplegia (HSP), autosomal-recessive cerebellar ataxia
171 e-Tooth disease (CMT) and Hereditary Spastic Paraplegia (HSP), but the mechanism of its involvement i
193 ly of genes implicated in hereditary spastic paraplegias (HSPs) is quickly expanding, mostly owing to
205 far the most common cause of complex spastic paraplegia in the UK, with severe and progressive clinic
207 ures, severe developmental delay and spastic paraplegia, in whom whole-genome sequencing revealed com
208 013) on acute complicated type B AD, stroke, paraplegia, in-hospital mortality and follow-up mortalit
210 RMS in three unrelated patients with spastic paraplegia, intellectual disability, nystagmus, and obes
211 gia gene 11(SPG11)-linked hereditary spastic paraplegia is a complex monogenic neurodegenerative dise
214 pure, autosomal dominant hereditary spastic paraplegia is caused by mutation in the ATL1 gene encodi
215 rm of autosomal recessive hereditary spastic paraplegia is caused by mutations in the SPG11/KIAA1840
216 nerative disease that in addition to spastic paraplegia is characterized by childhood onset cognitive
218 as either 'pure' or 'complex' where spastic paraplegia is complicated with additional neurological f
219 er limb spasticity, or complex where spastic paraplegia is complicated with additional neurological f
220 lity and morbidity associated with permanent paraplegia justifies the risks and uncertainties associa
221 inary retention as prodromes of irreversible paraplegia may allow earlier diagnosis and treatment in
222 ossibly of other forms of hereditary spastic paraplegia may involve perturbation of neuronal anterogr
223 uscular hypotonia that progressed to spastic paraplegia, microcephaly, foot deformity, decreased musc
225 ces similar phenotypes of hereditary spastic paraplegia (mitochondrial dysfunction and defects in lip
226 al defects of an atypical hereditary spastic paraplegia mutant, ATL1-F151S, that is impaired in its n
234 nction were more likely to have irreversible paraplegia (P < 0.01), despite presenting with a monopha
235 . 22 minutes, P <.0001) and a higher rate of paraplegia/paresis (30% vs. 2%, P =.01) as compared to t
237 hts into the pathology of hereditary spastic paraplegia, particularly how mutations in multiple, conv
238 linico-genetic work-up of hereditary spastic paraplegia, particularly in dominant cases, as the assoc
242 sonism, muscle weakness, neuropathy, spastic paraplegia, personality/behavioral problems, and dystoni
243 fied as a complex form of hereditary spastic paraplegia, present in families from Kuwait, Italy and t
244 Here, we show that the hereditary spastic paraplegia protein M1 Spastin, a membrane-bound AAA ATPa
245 nstration of a role for a hereditary spastic paraplegia protein or ichthyin family member in a specif
246 2) and Bhlhb5 (mutated in Hereditary Spastic Paraplegia), providing a molecular handle to investigate
248 ogression rate of 0.56 points on the Spastic Paraplegia Rating Scale per year was slightly lower than
251 eries of 97 index cases with complex spastic paraplegia referred to a tertiary referral neurology cen
253 ment, and the postoperative complications of paraplegia, renal failure, and pulmonary insufficiency.
254 ariables including congestive heart failure, paraplegia, reoperation, dyspnea at rest, nongastric ban
255 rization of patients with hereditary spastic paraplegias represents progressive spasticity, exaggerat
257 Troyer syndrome, a recessive form of spastic paraplegia resulting in muscle weakness, short stature,
258 metabolism account for approximately 80% of paraplegia risk and intercostal blood flow accounts for
259 al aneurysm repair for factors that affected paraplegia risk including aneurysm extent, acuity, cardi
262 (IRP) using a highly accurate (r(2) > 0.88) paraplegia risk index we developed and published previou
264 previously demonstrated an 80% reduction in paraplegia risk using hypothermia, naloxone, steroids, s
265 erging field support this prediction of high paraplegia risk with thoracoabdominal branched endograft
266 injuries has reduced the rates of death and paraplegia seen with open surgical treatment in the past
270 drome, and three forms of hereditary spastic paraplegia, SPG11, SPG15 and SPG49 caused by SPG11, ZFYV
271 s cause specific types of hereditary spastic paraplegia (SPG28 and SPG54, respectively), and the yeas
272 ntified in both a form of hereditary spastic paraplegia (SPG35) and a progressive familial leukodystr
274 ildhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1)
278 es disease mechanisms for hereditary spastic paraplegia that involve dependence of the microtubule cy
279 osis and its differentiation from hysterical paraplegia, the second transverse myelitis and its conse
281 , ranging from muscular dystrophy to spastic paraplegia to a childhood blinding disorder to bone defo
282 Motor signs developed ascending from spastic paraplegia to tetraplegia and pseudobulbar palsy in the
283 Using a mouse model of hereditary spastic paraplegia type 2 due to a null mutation of the myelin P
286 estigation; recent studies show that spastic paraplegia type 5, a progressive neuropathy, is caused b
289 ns cause a common form of hereditary spastic paraplegia, we suggest ER-shaping defects as a neuropath
290 utosomal dominant form of hereditary spastic paraplegia, which is a retrograde axonopathy primarily c
291 the use of bypass, no CI/R patient developed paraplegia, while all CI/R patients experienced parapleg
292 paired via clamp-and-sew technique developed paraplegia, while none of the seven CI/R patients repair
293 s with adult onset leukodystrophy or spastic paraplegia with early onset of urinary symptoms and spin
294 , and predominant complex hereditary spastic paraplegia with marked cognitive impairment, without any
295 ed to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal peripher
296 se of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and peripheral axon
297 ings were neurogenic bladder (100%), spastic paraplegia with vibration loss (90%), and axonal neuropa
298 set, slowly progressive, complicated spastic paraplegia, with normal or near-normal psychomotor devel
299 centrifugal pump to reduce the incidence of paraplegia without the risk of systemic anticoagulation