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For: Parodi L, Coarelli G, Stevanin G, Brice A, Durr A. Hereditary ataxias and paraparesias: clinical and genetic update. Current Opinion in Neurology 2018;31:462-71. [DOI: 10.1097/wco.0000000000000585] [Cited by in Crossref: 44] [Cited by in F6Publishing: 26] [Article Influence: 11.0] [Reference Citation Analysis]
Number Citing Articles
1 D'Amore A, Tessa A, Casali C, Dotti MT, Filla A, Silvestri G, Antenora A, Astrea G, Barghigiani M, Battini R, Battisti C, Bruno I, Cereda C, Dato C, Di Iorio G, Donadio V, Felicori M, Fini N, Fiorillo C, Gallone S, Gemignani F, Gigli GL, Graziano C, Guerrini R, Gurrieri F, Kariminejad A, Lieto M, Marques LourenḈo C, Malandrini A, Mandich P, Marcotulli C, Mari F, Massacesi L, Melone MAB, Mignarri A, Milone R, Musumeci O, Pegoraro E, Perna A, Petrucci A, Pini A, Pochiero F, Pons MR, Ricca I, Rossi S, Seri M, Stanzial F, Tinelli F, Toscano A, Valente M, Federico A, Rubegni A, Santorelli FM. Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study. Front Neurol 2018;9:981. [PMID: 30564185 DOI: 10.3389/fneur.2018.00981] [Cited by in Crossref: 29] [Cited by in F6Publishing: 27] [Article Influence: 7.3] [Reference Citation Analysis]
2 Webb BD, Evans A, Naidich TP, M Bird L, Parikh S, Fernandez Garcia M, Henderson LB, Millan F, Si Y, Brennand KJ, Hung P, Rucker JC, Wheeler PG, Schadt EE. Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor. Hum Mutat 2021;42:685-93. [PMID: 33783914 DOI: 10.1002/humu.24201] [Reference Citation Analysis]
3 Verdura E, Schlüter A, Fernández-Eulate G, Ramos-Martín R, Zulaica M, Planas-Serra L, Ruiz M, Fourcade S, Casasnovas C, López de Munain A, Pujol A. A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases. Ann Clin Transl Neurol 2020;7:105-11. [PMID: 31854126 DOI: 10.1002/acn3.50967] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 2.3] [Reference Citation Analysis]
4 Pujol C, Legrand A, Parodi L, Thomas P, Mochel F, Saracino D, Coarelli G, Croon M, Popovic M, Valet M, Villain N, Elshafie S, Issa M, Zuily S, Renaud M, Marelli-Tosi C, Legendre M, Trimouille A, Kemlin I, Mathieu S, Gleeson JG, Lamari F, Galatolo D, Alkouri R, Tse C, Rodriguez D, Ewenczyk C, Fellmann F, Kuntzer T, Blond E, El Hachimi KH, Darios F, Seyer A, Gazi AD, Giavalisco P, Perin S, Boucher JL, Le Corre L, Santorelli FM, Goizet C, Zaki MS, Picaud S, Mourier A, Steculorum SM, Mignot C, Durr A, Trifunovic A, Stevanin G. Implication of folate deficiency in CYP2U1 loss of function. J Exp Med 2021;218:e20210846. [PMID: 34546337 DOI: 10.1084/jem.20210846] [Reference Citation Analysis]
5 Yahia A, Chen ZS, Ahmed AE, Emad S, Adil R, Abubaker R, Taha SOMA, Salih MA, Elsayed L, Chan HYE, Stevanin G. A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report. BMC Neurol 2021;21:78. [PMID: 33602173 DOI: 10.1186/s12883-021-02113-y] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
6 Marchionni E, Méneret A, Keren B, Melki J, Denier C, Durr A, Apartis E, Boespflug-Tanguy O, Mochel F. KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins. Tremor Other Hyperkinet Mov (N Y) 2019;9. [PMID: 31413903 DOI: 10.7916/tohm.v0.641] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
7 Servelhere KR, Casseb RF, de Lima FD, Rezende TJR, Ramalho LP, França MC Jr. Spinal Cord Gray and White Matter Damage in Different Hereditary Spastic Paraplegia Subtypes. AJNR Am J Neuroradiol 2021;42:610-5. [PMID: 33478946 DOI: 10.3174/ajnr.A7017] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 6.0] [Reference Citation Analysis]
8 Paparella G, Vavla M, Bernardi L, Girardi G, Stefan C, Martinuzzi A. Efficacy of a Combined Treatment of Botulinum Toxin and Intensive Physiotherapy in Hereditary Spastic Paraplegia. Front Neurosci 2020;14:111. [PMID: 32153352 DOI: 10.3389/fnins.2020.00111] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 2.5] [Reference Citation Analysis]
9 Schiavoni S, Spagnoli C, Rizzi S, Salerno GG, Frattini D, Pisani F, Fusco C. Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study. Dev Med Child Neurol 2020;62:1068-74. [PMID: 32277485 DOI: 10.1111/dmcn.14547] [Cited by in Crossref: 3] [Article Influence: 1.5] [Reference Citation Analysis]
10 Chaudhary R, Agarwal V, Rehman M, Kaushik AS, Mishra V. Genetic architecture of motor neuron diseases. J Neurol Sci 2021;434:120099. [PMID: 34965490 DOI: 10.1016/j.jns.2021.120099] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
11 Morgan NV, Yngvadottir B, O'Driscoll M, Clark GR, Walsh D, Martin E, Tee L, Reid E, Titheradge HL, Maher ER. Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL. Brain Commun 2021;3:fcab002. [PMID: 33634263 DOI: 10.1093/braincomms/fcab002] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
12 Barbuto S, Martelli D, Isirame O, Lee N, Bishop L, Kuo SH, Agrawal S, Lee S, O'Dell M, Stein J. Phase I Single-Blinded Randomized Controlled Trial Comparing Balance and Aerobic Training in Degenerative Cerebellar Disease. PM R 2021;13:364-71. [PMID: 32383352 DOI: 10.1002/pmrj.12401] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
13 Montanaro D, Vavla M, Frijia F, Aghakhanyan G, Baratto A, Coi A, Stefan C, Girardi G, Paparella G, De Cori S, Totaro P, Lombardo F, Piccoli G, Martinuzzi A. Multimodal MRI Longitudinal Assessment of White and Gray Matter in Different SPG Types of Hereditary Spastic Paraparesis. Front Neurosci 2020;14:325. [PMID: 32581663 DOI: 10.3389/fnins.2020.00325] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
14 Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan KM, Waldrop MA, Schrader R, Juusola J, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan QK, Schaaf CP, Meng L. Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. Hum Mutat 2020;41:632-40. [PMID: 31696996 DOI: 10.1002/humu.23950] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
15 Cotti Piccinelli S, Bassi MT, Citterio A, Manganelli F, Tozza S, Santorelli FM, Gallo Cassarino S, Caria F, Baldelli E, Galvagni A, Santoro L, Padovani A, Filosto M. A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family. Front Neurol 2019;10:580. [PMID: 31231303 DOI: 10.3389/fneur.2019.00580] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 2.3] [Reference Citation Analysis]
16 Chou CT, Soong BW, Lin KP, Tsai YS, Jih KY, Liao YC, Lee YC. Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5. Ann Clin Transl Neurol 2020;7:486-96. [PMID: 32202070 DOI: 10.1002/acn3.51019] [Cited by in Crossref: 4] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
17 Yahia A, Stevanin G. The History of Gene Hunting in Hereditary Spinocerebellar Degeneration: Lessons From the Past and Future Perspectives. Front Genet 2021;12:638730. [PMID: 33833777 DOI: 10.3389/fgene.2021.638730] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
18 Ringman JM, Qiao Y, Garbin A, Fisher BE, Fogel B, Watari Knoell K, Chui HC, Shi Y, Rexach JE. Emotional detachment, gait ataxia, and cerebellar dysconnectivity associated with compound heterozygous mutations in the SPG7 gene. Neurocase 2020;26:299-304. [PMID: 32893728 DOI: 10.1080/13554794.2020.1817493] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
19 Méreaux JL, Firanescu C, Coarelli G, Kvarnung M, Rodrigues R, Pegoraro E, Tazir M, Taithe F, Valter R, Huin V, Lidström K, Banneau G, Morais S, Parodi L, Coutelier M, Papin M, Svenningsson P, Azulay JP, Alonso I, Nilsson D, Brice A, Le Guern E, Press R, Vazza G, Loureiro JL, Goizet C, Durr A, Paucar M, Stevanin G. Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations. Neurogenetics 2021;22:71-9. [PMID: 33486633 DOI: 10.1007/s10048-020-00633-2] [Reference Citation Analysis]
20 Cheng HL, Shao YR, Dong Y, Dong HL, Yang L, Ma Y, Shen Y, Wu ZY. Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias. Transl Neurodegener 2021;10:40. [PMID: 34663476 DOI: 10.1186/s40035-021-00264-z] [Reference Citation Analysis]
21 Kim DH, Kim R, Lee JY, Lee KM. Clinical, Imaging, and Laboratory Markers of Premanifest Spinocerebellar Ataxia 1, 2, 3, and 6: A Systematic Review. J Clin Neurol 2021;17:187-99. [PMID: 33835738 DOI: 10.3988/jcn.2021.17.2.187] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
22 Elsayed LEO, Eltazi IZ, Ahmed AE, Stevanin G. Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview. Front Mol Biosci 2021;8:690899. [PMID: 34901147 DOI: 10.3389/fmolb.2021.690899] [Reference Citation Analysis]
23 Nuzhnyi EP, Abramycheva NY, Safonov DG, Fedotova EY, Illarioshkin SN. Massive Parallel Sequencing and the Problem of Overlapping Phenotypes in Hereditary Spastic Paraplegias and Spinocerebellar Ataxias. Russ J Genet 2022;58:456-61. [DOI: 10.1134/s1022795422040111] [Reference Citation Analysis]
24 Votsi C, Ververis A, Nicolaou P, Christou Y, Christodoulou K, Zamba-papanicolaou E. A Novel SPG7 Gene Pathogenic Variant in a Cypriot Family With Autosomal Recessive Spastic Ataxia. Front Genet 2022;12:812640. [DOI: 10.3389/fgene.2021.812640] [Reference Citation Analysis]
25 Güner F, Pozner T, Krach F, Prots I, Loskarn S, Schlötzer-Schrehardt U, Winkler J, Winner B, Regensburger M. Axon-Specific Mitochondrial Pathology in SPG11 Alpha Motor Neurons. Front Neurosci 2021;15:680572. [PMID: 34326717 DOI: 10.3389/fnins.2021.680572] [Reference Citation Analysis]
26 Riso V, Rossi S, Nicoletti TF, Tessa A, Travaglini L, Zanni G, Aiello C, Perna A, Barghigiani M, Pomponi MG, Santorelli FM, Silvestri G. Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience. Brain Sci 2021;11:246. [PMID: 33669240 DOI: 10.3390/brainsci11020246] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
27 Bellofatto M, De Michele G, Iovino A, Filla A, Santorelli FM. Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature. Front Neurol 2019;10:3. [PMID: 30723448 DOI: 10.3389/fneur.2019.00003] [Cited by in Crossref: 14] [Cited by in F6Publishing: 12] [Article Influence: 4.7] [Reference Citation Analysis]
28 Algahtani H, Shirah B, Ullah I, Al-Qahtani MH, Abdulkareem AA, Naseer MI. Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family. Genes Dis 2021;8:110-4. [PMID: 33569519 DOI: 10.1016/j.gendis.2019.07.009] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
29 Qiu Y, Zhong S, Cong L, Xin L, Gao X, Zhang J, Hong D. A novel KIF5A gene variant causes spastic paraplegia and cerebellar ataxia. Ann Clin Transl Neurol 2018;5:1415-20. [PMID: 30480035 DOI: 10.1002/acn3.650] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 0.8] [Reference Citation Analysis]
30 Chen R, Du S, Yao Y, Zhang L, Luo J, Shen Y, Xu Z, Zeng X, Zhang L, Liu M, Yin C, Tang B, Tan J, Xu X, Liu JY. A Novel SPAST Mutation Results in Spastin Accumulation and Defects in Microtubule Dynamics. Mov Disord 2021. [PMID: 34927746 DOI: 10.1002/mds.28885] [Reference Citation Analysis]
31 Lallemant-Dudek P, Darios F, Durr A. Recent advances in understanding hereditary spastic paraplegias and emerging therapies. Fac Rev 2021;10:27. [PMID: 33817696 DOI: 10.12703/r/10-27] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
32 Vavouraki N, Tomkins JE, Kara E, Houlden H, Hardy J, Tindall MJ, Lewis PA, Manzoni C. Integrating protein networks and machine learning for disease stratification in the Hereditary Spastic Paraplegias. iScience 2021;24:102484. [PMID: 34113825 DOI: 10.1016/j.isci.2021.102484] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
33 Giangiardi VF, Perracini MR, da Silva ML, Setti GBR, Curzio LE, Vegas M, Alouche SR. Functional Outcomes Associated With Independence in Walking Among People With Hereditary Ataxias: An Exploratory Cross-sectional Study. Phys Ther 2022;102:pzac006. [PMID: 35079839 DOI: 10.1093/ptj/pzac006] [Reference Citation Analysis]