139 related articles for article (PubMed ID: 38286980)
1. A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review.
Kojima F; Okamoto Y; Ando M; Higuchi Y; Hobara T; Yuan J; Yoshimura A; Hashiguchi A; Matsuura E; Takashima H
Neurogenetics; 2024 Apr; 25(2):149-156. PubMed ID: 38286980
[TBL] [Abstract][Full Text] [Related]
2. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Wiessner M; Maroofian R; Ni MY; Pedroni A; Müller JS; Stucka R; Beetz C; Efthymiou S; Santorelli FM; Alfares AA; Zhu C; Uhrova Meszarosova A; Alehabib E; Bakhtiari S; Janecke AR; Otero MG; Chen JYH; Peterson JT; Strom TM; De Jonghe P; Deconinck T; De Ridder W; De Winter J; Pasquariello R; Ricca I; Alfadhel M; van de Warrenburg BP; Portier R; Bergmann C; Ghasemi Firouzabadi S; Jin SC; Bilguvar K; Hamed S; Abdelhameed M; Haridy NA; Maqbool S; Rahman F; Anwar N; Carmichael J; Pagnamenta A; Wood NW; Tran Mau-Them F; Haack T; ; Di Rocco M; Ceccherini I; Iacomino M; Zara F; Salpietro V; Scala M; Rusmini M; Xu Y; Wang Y; Suzuki Y; Koh K; Nan H; Ishiura H; Tsuji S; Lambert L; Schmitt E; Lacaze E; Küpper H; Dredge D; Skraban C; Goldstein A; Willis MJH; Grand K; Graham JM; Lewis RA; Millan F; Duman Ö; Dündar N; Uyanik G; Schöls L; Nürnberg P; Nürnberg G; Catala Bordes A; Seeman P; Kuchar M; Darvish H; Rebelo A; Bouçanova F; Medard JJ; Chrast R; Auer-Grumbach M; Alkuraya FS; Shamseldin H; Al Tala S; Rezazadeh Varaghchi J; Najafi M; Deschner S; Gläser D; Hüttel W; Kruer MC; Kamsteeg EJ; Takiyama Y; Züchner S; Baets J; Synofzik M; Schüle R; Horvath R; Houlden H; Bartesaghi L; Lee HJ; Ampatzis K; Pierson TM; Senderek J
Brain; 2021 Jun; 144(5):1422-1434. PubMed ID: 33970200
[TBL] [Abstract][Full Text] [Related]
3. Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Husain RA; Grimmel M; Wagner M; Hennings JC; Marx C; Feichtinger RG; Saadi A; Rostásy K; Radelfahr F; Bevot A; Döbler-Neumann M; Hartmann H; Colleaux L; Cordts I; Kobeleva X; Darvish H; Bakhtiari S; Kruer MC; Besse A; Ng AC; Chiang D; Bolduc F; Tafakhori A; Mane S; Ghasemi Firouzabadi S; Huebner AK; Buchert R; Beck-Woedl S; Müller AJ; Laugwitz L; Nägele T; Wang ZQ; Strom TM; Sturm M; Meitinger T; Klockgether T; Riess O; Klopstock T; Brandl U; Hübner CA; Deschauer M; Mayr JA; Bonnen PE; Krägeloh-Mann I; Wortmann SB; Haack TB
Am J Hum Genet; 2020 Aug; 107(2):364-373. PubMed ID: 32707086
[TBL] [Abstract][Full Text] [Related]
4. VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis.
Hausman-Kedem M; Ben-Shachar S; Menascu S; Geva K; Sagie L; Fattal-Valevski A
Neurogenetics; 2019 Oct; 20(4):187-195. PubMed ID: 31418091
[TBL] [Abstract][Full Text] [Related]
5. Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient.
Uhrova Meszarosova A; Safka Brozkova D; Vyhnalek M; Mazanec R; Lastuvkova J; Trkova M; Bittoova M; Soldatova I; Seeman P
J Clin Neurosci; 2019 Jan; 59():337-339. PubMed ID: 30446360
[TBL] [Abstract][Full Text] [Related]
6. Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.
Willkomm L; Heredia R; Hoffmann K; Wang H; Voit T; Hoffman EP; Cirak S
J Hum Genet; 2016 Jun; 61(6):571-3. PubMed ID: 26888483
[TBL] [Abstract][Full Text] [Related]
7. A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis.
Eker HK; Unlü SE; Al-Salmi F; Crosby AH
Eur J Med Genet; 2014; 57(6):275-8. PubMed ID: 24704789
[TBL] [Abstract][Full Text] [Related]
8. Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia.
Wakil SM; Alhissi S; Al Dossari H; Alqahtani A; Shibin S; Melaiki BT; Finsterer J; Al-Hashem A; Bohlega S; Alazami AM
BMC Med Genet; 2019 Jul; 20(1):119. PubMed ID: 31272422
[TBL] [Abstract][Full Text] [Related]
9. Hereditary spastic paraplegia: report of two siblings.
Yeh YC; Mak SC; Chi CS
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1998; 39(2):112-5. PubMed ID: 9599901
[TBL] [Abstract][Full Text] [Related]
10. SPTAN1 variants likely cause autosomal recessive complicated hereditary spastic paraplegia.
Xie F; Chen S; Liu P; Chen X; Luo W
J Hum Genet; 2022 Mar; 67(3):165-168. PubMed ID: 34526651
[TBL] [Abstract][Full Text] [Related]
11. Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
Estrada-Cuzcano A; Martin S; Chamova T; Synofzik M; Timmann D; Holemans T; Andreeva A; Reichbauer J; De Rycke R; Chang DI; van Veen S; Samuel J; Schöls L; Pöppel T; Mollerup Sørensen D; Asselbergh B; Klein C; Zuchner S; Jordanova A; Vangheluwe P; Tournev I; Schüle R
Brain; 2017 Feb; 140(2):287-305. PubMed ID: 28137957
[TBL] [Abstract][Full Text] [Related]
12. Hereditary spastic paraplegia with hypoplastic corpus callosum in a Turkish family.
Gucuyener K; Hirfanoglu T; Ok I; Cansu A; Serdaroglu A
J Child Neurol; 2007 Feb; 22(2):214-7. PubMed ID: 17621486
[TBL] [Abstract][Full Text] [Related]
13. A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81.
Sarma AS; Siddardha B; T PL; Ranganath P; Dalal A
J Gene Med; 2023 Jul; 25(7):e3501. PubMed ID: 36942482
[TBL] [Abstract][Full Text] [Related]
14. Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia.
Qiu Y; Xiong Y; Wang L; Zhu M; Tan D; Hong D
Ann Clin Transl Neurol; 2024 Apr; 11(4):1067-1074. PubMed ID: 38439593
[TBL] [Abstract][Full Text] [Related]
15. NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup.
Elsaid MF; Ibrahim K; Chalhoub N; Elsotouhy A; El Mudehki N; Abdel Aleem A
BMC Med Genet; 2017 Mar; 18(1):33. PubMed ID: 28327087
[TBL] [Abstract][Full Text] [Related]
16. Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Kara E; Tucci A; Manzoni C; Lynch DS; Elpidorou M; Bettencourt C; Chelban V; Manole A; Hamed SA; Haridy NA; Federoff M; Preza E; Hughes D; Pittman A; Jaunmuktane Z; Brandner S; Xiromerisiou G; Wiethoff S; Schottlaender L; Proukakis C; Morris H; Warner T; Bhatia KP; Korlipara LV; Singleton AB; Hardy J; Wood NW; Lewis PA; Houlden H
Brain; 2016 Jul; 139(Pt 7):1904-18. PubMed ID: 27217339
[TBL] [Abstract][Full Text] [Related]
17.
Rahimi Bidgoli MM; Javanparast L; Rohani M; Najmabadi H; Zamani B; Alavi A
Int J Neurosci; 2021 Oct; 131(10):962-974. PubMed ID: 32352326
[TBL] [Abstract][Full Text] [Related]
18. Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).
Gonzalez M; Nampoothiri S; Kornblum C; Oteyza AC; Walter J; Konidari I; Hulme W; Speziani F; Schöls L; Züchner S; Schüle R
Eur J Hum Genet; 2013 Nov; 21(11):1214-8. PubMed ID: 23486545
[TBL] [Abstract][Full Text] [Related]
19. A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.
Warnecke T; Duning T; Schwan A; Lohmann H; Epplen JT; Young P
Neurology; 2007 Jul; 69(4):368-75. PubMed ID: 17646629
[TBL] [Abstract][Full Text] [Related]
20. More autosomal dominant SPG18 cases than recessive? The first AD-SPG18 pedigree in Chinese and literature review.
Chen S; Zou JL; He S; Li W; Zhang JW; Li SJ
Brain Behav; 2021 Dec; 11(12):e32395. PubMed ID: 34734492
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
