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Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 15"
Page 1
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Larivière R, Genís D, Molina Porcel L, Choquet K, Sakalla R, Provost S, Robertson R, Allard-Chamard X, Tétreault M, Reiling SJ, Nagy S, Nishadham V, Purushottam M, Vengalil S, Bardhan M, Nalini A, Chen Z, Mathieu J, Massie R, Chalk CH, Lafontaine AL, Evoy F, Rioux MF, Ragoussis J, Boycott KM, Dubé MP, Duquette A, Houlden H, Ravenscroft G, Laing NG, Lamont PJ, Saporta MA, Schüle R, Schöls L, La Piana R, Synofzik M, Zuchner S, Brais B. Pellerin D, et al. N Engl J Med. 2023 Jan 12;388(2):128-141. doi: 10.1056/NEJMoa2207406. Epub 2022 Dec 14. N Engl J Med. 2023. PMID: 36516086 Free PMC article.
There was significant association between FGF14 (GAA)(250) expansions and LOCA in the French Canadian series (odds ratio, 105.60; 95% confidence interval [CI], 31.09 to 334.20; P<0.001) and in the German series (odds ratio, 8.76; 95% CI, 3.45 to 20.84; P<0.001). The repeat …
There was significant association between FGF14 (GAA)(250) expansions and LOCA in the French Canadian series (odds ratio, 105.60; 95% confid …
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P. Ruano L, et al. Neuroepidemiology. 2014;42(3):174-83. doi: 10.1159/000358801. Epub 2014 Mar 5. Neuroepidemiology. 2014. PMID: 24603320 Free article. Review.
BACKGROUND: Hereditary cerebellar ataxias (HCA) and hereditary spastic paraplegias (HSP) are two groups of neurodegenerative disorders that usually present with progressive gait impairment, often leading to permanent disability. ...The prevalence of autosomal …
BACKGROUND: Hereditary cerebellar ataxias (HCA) and hereditary spastic paraplegias (HSP) are two groups of neurodegener …
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D. Saffari A, et al. Brain. 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. Brain. 2023. PMID: 36315648 Free PMC article.
In the field of hereditary spastic paraplegia (HSP), progress in molecular diagnostics needs to be translated into robust phenotyping studies to understand genetic and phenotypic heterogeneity and to support interventional trials. ZFYVE26-associated heredi …
In the field of hereditary spastic paraplegia (HSP), progress in molecular diagnostics needs to be translated into robu …
Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature.
Panwala TF, Garcia-Santibanez R, Vizcarra JA, Garcia AG, Verma S. Panwala TF, et al. Pediatr Neurol. 2022 May;130:7-13. doi: 10.1016/j.pediatrneurol.2022.02.007. Epub 2022 Mar 3. Pediatr Neurol. 2022. PMID: 35303589 Review.
BACKGROUND: Hereditary spastic paraplegia (HSP) encompasses several rare genetic disorders characterized by progressive lower extremity spasticity and weakness caused by corticospinal tract degeneration. ...RESULTS: Sixteen patients with HSP (eight males, eig …
BACKGROUND: Hereditary spastic paraplegia (HSP) encompasses several rare genetic disorders characterized by progressive …
Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia.
Saputra L, Kumar KR. Saputra L, et al. Curr Neurol Neurosci Rep. 2021 Feb 28;21(4):15. doi: 10.1007/s11910-021-01099-x. Curr Neurol Neurosci Rep. 2021. PMID: 33646413 Free PMC article. Review.
PURPOSE OF REVIEW: The hereditary spastic paraplegias (HSPs) are a group of disorders characterised by progressive lower limb weakness and spasticity. ...
PURPOSE OF REVIEW: The hereditary spastic paraplegias (HSPs) are a group of disorders characterised by progressive lower limb …
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A, Vélez-Santamaría V, Verdura E, Rodríguez-Palmero A, Ruiz M, Fourcade S, Planas-Serra L, Launay N, Guilera C, Martínez JJ, Homedes-Pedret C, Albertí-Aguiló MA, Zulaika M, Martí I, Troncoso M, Tomás-Vila M, Bullich G, García-Pérez MA, Sobrido-Gómez MJ, López-Laso E, Fons C, Del Toro M, Macaya A; HSP/ataxia workgroup; Beltran S, Gutiérrez-Solana LG, Pérez-Jurado LA, Aguilera-Albesa S, de Munain AL, Casasnovas C, Pujol A. Schlüter A, et al. Genome Med. 2023 Sep 7;15(1):68. doi: 10.1186/s13073-023-01214-2. Genome Med. 2023. PMID: 37679823 Free PMC article.
This algorithm was thoroughly benchmarked using a synthetic patient cohort and was subsequently tested on a heterogeneous prospective, real-world series of 135 families affected by hereditary spastic paraplegia (HSP) and/or cerebellar ataxia (CA). RESULTS: Cl …
This algorithm was thoroughly benchmarked using a synthetic patient cohort and was subsequently tested on a heterogeneous prospective, real- …
Dysarthria in hereditary spastic paraplegia type 4.
Jacinto-Scudeiro LA, Rothe-Neves R, Dos Santos VB, Machado GD, Burguêz D, Padovani MMP, Ayres A, Rech RS, González-Salazar C, Junior MCF, Saute JAM, Olchik MR. Jacinto-Scudeiro LA, et al. Clinics (Sao Paulo). 2022 Dec 3;78:100128. doi: 10.1016/j.clinsp.2022.100128. eCollection 2023. Clinics (Sao Paulo). 2022. PMID: 36473366 Free PMC article.
OBJECTIVE: To describe the speech pattern of patients with hereditary Spastic Paraplegia type 4 (SPG4) and correlated it with their clinical data. ...The speech assessment of both groups included: speech task recording, acoustic analysis, and auditory-percept …
OBJECTIVE: To describe the speech pattern of patients with hereditary Spastic Paraplegia type 4 (SPG4) and correlated i …
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. ...Twenty-three patients from 19 families (29.2%) had conclusive genetic findings, including 75.0% of families with autosomal dominant and 25.0% with autosoma …
Hereditary spastic paraplegia (HSP) is among the most genetically diverse of all monogenic diseases. ...Twenty-three pa …
Charcot-Marie-Tooth disease and related disorders: an evolving landscape.
Laurá M, Pipis M, Rossor AM, Reilly MM. Laurá M, et al. Curr Opin Neurol. 2019 Oct;32(5):641-650. doi: 10.1097/WCO.0000000000000735. Curr Opin Neurol. 2019. PMID: 31343428 Review.
We will review recent evidence of the increasingly recognized phenotypic overlap with other neurodegenerative conditions including hereditary spastic paraplegia, hereditary ataxias and mitochondrial diseases and highlight the importance of deep phenoty …
We will review recent evidence of the increasingly recognized phenotypic overlap with other neurodegenerative conditions including heredi …
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 …
96 results