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Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 74"
Page 1
Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia.
Perić S, Marković V, Candayan A, De Vriendt E, Momčilović N, Savić A, Dragašević-Mišković N, Svetel M, Stević Z, Božović I, Mesaroš Š, Drulović J, Basta I, Petrović I, Tamaš O, Mijajlović M, Novaković I, Sokić D, Jordanova A. Perić S, et al. Cells. 2022 Sep 8;11(18):2804. doi: 10.3390/cells11182804. Cells. 2022. PMID: 36139378 Free PMC article.
Hereditary spastic paraplegia (HSP) is among the most genetically diverse of all monogenic diseases. The aim was to analyze the genetic causes of HSP among adult Serbian patients. The study comprised 74 patients from 65 families clinically diagnosed wi …
Hereditary spastic paraplegia (HSP) is among the most genetically diverse of all monogenic diseases. The aim was to ana …
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.
Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CM. Erichsen AK, et al. Brain. 2009 Jun;132(Pt 6):1577-88. doi: 10.1093/brain/awp056. Epub 2009 Mar 31. Brain. 2009. PMID: 19339254
One hundred seventy-one subjects from 87 unrelated families with hereditary ataxia and 194 subjects from 65 unrelated families with hereditary spastic paraplegia were included. ...Hereditary spastic paraplegia prevalence was 7.4/10 …
One hundred seventy-one subjects from 87 unrelated families with hereditary ataxia and 194 subjects from 65 unrelated families with …
Intrathecal baclofen therapy for the symptomatic treatment of hereditary spastic paraplegia.
Margetis K, Korfias S, Boutos N, Gatzonis S, Themistocleous M, Siatouni A, Dalivigka Z, Flaskas T, Stranjalis G, Boviatsis E, Sakas D. Margetis K, et al. Clin Neurol Neurosurg. 2014 Aug;123:142-5. doi: 10.1016/j.clineuro.2014.05.024. Epub 2014 Jun 4. Clin Neurol Neurosurg. 2014. PMID: 24973568 Clinical Trial.
OBJECTIVE: We study the effectiveness and safety of intrathecal baclofen therapy for the treatment of spasticity and gait improvement in patients suffering from hereditary spastic paraplegia. METHODS: Sixteen patients diagnosed with hereditary spast …
OBJECTIVE: We study the effectiveness and safety of intrathecal baclofen therapy for the treatment of spasticity and gait improvement in pat …
Automated assessment of foot elevation in adults with hereditary spastic paraplegia using inertial measurements and machine learning.
Ollenschläger M, Höfner P, Ullrich M, Kluge F, Greinwalder T, Loris E, Regensburger M, Eskofier BM, Winkler J, Gaßner H. Ollenschläger M, et al. Orphanet J Rare Dis. 2023 Aug 29;18(1):249. doi: 10.1186/s13023-023-02854-8. Orphanet J Rare Dis. 2023. PMID: 37644478 Free PMC article.
BACKGROUND: Hereditary spastic paraplegias (HSPs) cause characteristic gait impairment leading to an increased risk of stumbling or even falling. ...For classifying symptom severity, the algorithm reached an accuracy of 74%. CONCLUSION: Here, we show that the …
BACKGROUND: Hereditary spastic paraplegias (HSPs) cause characteristic gait impairment leading to an increased risk of stumbli …
Bone mineral density in patients with multiple sclerosis, hereditary ataxia or hereditary spastic paraplegia after at least 10 years of disease - a case control study.
Simonsen CS, Celius EG, Brunborg C, Tallaksen C, Eriksen EF, Holmøy T, Moen SM. Simonsen CS, et al. BMC Neurol. 2016 Dec 5;16(1):252. doi: 10.1186/s12883-016-0771-4. BMC Neurol. 2016. PMID: 27919248 Free PMC article.
The aim of this study was to assess whether patients with MS are more likely to develop low BMD (osteopenia or osteoporosis) than patients with the non-inflammatory neurological diseases Hereditary Spastic Paraplegia (HSP) and Hereditary Ataxia (HA). M …
The aim of this study was to assess whether patients with MS are more likely to develop low BMD (osteopenia or osteoporosis) than patients w …
Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort.
Tazelaar GHP, Dekker AM, van Vugt JJFA, van der Spek RA, Westeneng HJ, Kool LJBG, Kenna KP, van Rheenen W, Pulit SL, McLaughlin RL, Sproviero W, Iacoangeli A, Hübers A, Brenner D, Morrison KE, Shaw PJ, Shaw CE, Panadés MP, Mora Pardina JS, Glass JD, Hardiman O, Al-Chalabi A, van Damme P, Robberecht W, Landers JE, Ludolph AC, Weishaupt JH, van den Berg LH, Veldink JH, van Es MA; Project MinE ALS Sequencing Consortium. Tazelaar GHP, et al. Neurobiol Aging. 2019 Feb;74:234.e9-234.e15. doi: 10.1016/j.neurobiolaging.2018.09.012. Epub 2018 Sep 22. Neurobiol Aging. 2019. PMID: 30342764 Free PMC article.
NIPA1 (nonimprinted in Prader-Willi/Angelman syndrome 1) mutations are known to cause hereditary spastic paraplegia type 6, a neurodegenerative disease that phenotypically overlaps to some extent with amyotrophic lateral sclerosis (ALS). ...
NIPA1 (nonimprinted in Prader-Willi/Angelman syndrome 1) mutations are known to cause hereditary spastic paraplegia typ …
A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).
Shimazaki H, Takiyama Y, Ishiura H, Sakai C, Matsushima Y, Hatakeyama H, Honda J, Sakoe K, Naoi T, Namekawa M, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Goto Y, Nakano I; Japan Spastic Paraplegia Research Consortium (JASPAC). Shimazaki H, et al. J Med Genet. 2012 Dec;49(12):777-84. doi: 10.1136/jmedgenet-2012-101212. J Med Genet. 2012. PMID: 23188110
BACKGROUND: Autosomal recessive hereditary spastic paraplegias (AR-HSP) constitute a heterogeneous group of neurodegenerative diseases involving pyramidal tracts dysfunction. ...RESULTS: We identified a homozygous nonsense mutation (c.394C>T, p.R132X) in C12orf65 …
BACKGROUND: Autosomal recessive hereditary spastic paraplegias (AR-HSP) constitute a heterogeneous group of neurodegenerative …
Motor and somatosensory evoked potentials in Autosomal Dominant Hereditary Spastic Paraparesis (ADHSP) linked to chromosome 2p, SPG4.
Sartucci F, Tovani S, Murri L, Sagliocco L. Sartucci F, et al. Brain Res Bull. 2007 Sep 28;74(4):243-9. doi: 10.1016/j.brainresbull.2007.06.018. Epub 2007 Jul 17. Brain Res Bull. 2007. PMID: 17720546
The aim of our study was to evaluate Motor Evoked Potentials (MEPs) and cortical excitability, using Transcranial Magnetic Stimulation (TMS) as well as short latency Somatosensory Evoked Potentials (SEPs) in Autosomal Dominant Hereditary Spastic Paraparesis (ADHSP) …
The aim of our study was to evaluate Motor Evoked Potentials (MEPs) and cortical excitability, using Transcranial Magnetic Stimulation (TMS) …
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
Coarelli G, Schule R, van de Warrenburg BPC, De Jonghe P, Ewenczyk C, Martinuzzi A, Synofzik M, Hamer EG, Baets J, Anheim M, Schöls L, Deconinck T, Masrori P, Fontaine B, Klockgether T, D'Angelo MG, Monin ML, De Bleecker J, Migeotte I, Charles P, Bassi MT, Klopstock T, Mochel F, Ollagnon-Roman E, D'Hooghe M, Kamm C, Kurzwelly D, Papin M, Davoine CS, Banneau G, Tezenas du Montcel S, Seilhean D, Brice A, Duyckaerts C, Stevanin G, Durr A. Coarelli G, et al. Neurology. 2019 Jun 4;92(23):e2679-e2690. doi: 10.1212/WNL.0000000000007606. Epub 2019 May 8. Neurology. 2019. PMID: 31068484 Free PMC article.
OBJECTIVE: We took advantage of a large multinational recruitment to delineate genotype-phenotype correlations in a large, trans-European multicenter cohort of patients with spastic paraplegia gene 7 (SPG7). METHODS: We analyzed clinical and genetic data from 241 pa …
OBJECTIVE: We took advantage of a large multinational recruitment to delineate genotype-phenotype correlations in a large, trans-European mu …
Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene.
Bönsch D, Schwindt A, Navratil P, Palm D, Neumann C, Klimpe S, Schickel J, Hazan J, Weiller C, Deufel T, Liepert J. Bönsch D, et al. J Neurol Neurosurg Psychiatry. 2003 Aug;74(8):1109-12. doi: 10.1136/jnnp.74.8.1109. J Neurol Neurosurg Psychiatry. 2003. PMID: 12876245 Free PMC article.
BACKGROUND: Hereditary spastic paraparesis (HSP) denotes a group of inherited neurological disorders with progressive lower limb spasticity as their clinical hallmark; a large proportion of autosomal dominant HSP belongs to HSP type 4, which has been linked to the S …
BACKGROUND: Hereditary spastic paraparesis (HSP) denotes a group of inherited neurological disorders with progressive lower li …
11 results