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Year | Number of Results |
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PubMed (cited) for id: 618994
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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain. 2021 Jun 22;144(5):1422-1434. doi: 10.1093/brain/awab041.
Brain. 2021.
PMID: 33970200
Free PMC article.
Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL.
Morgan NV, Yngvadottir B, O'Driscoll M, Clark GR, Walsh D, Martin E, Tee L, Reid E, Titheradge HL, Maher ER.
Morgan NV, et al.
Brain Commun. 2021 Jan 28;3(1):fcab002. doi: 10.1093/braincomms/fcab002. eCollection 2021.
Brain Commun. 2021.
PMID: 33634263
Free PMC article.
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Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.
Ghosh SG, Lee S, Fabunan R, Chai G, Zaki MS, Abdel-Salam G, Sultan T, Ben-Omran T, Alvi JR, McEvoy-Venneri J, Stanley V, Patel A, Ross D, Ding J, Jain M, Pan D, Lübbert P, Kammerer B, Wiedemann N, Verhoeven-Duif NM, Jans JJ, Murphy D, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Ibrahim K, Waters ER, Maroofian R, Gleeson JG.
Ghosh SG, et al.
Genet Med. 2021 Mar;23(3):524-533. doi: 10.1038/s41436-020-01010-y. Epub 2020 Nov 14.
Genet Med. 2021.
PMID: 33188300
Free article.
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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.
Husain RA, et al.
Am J Hum Genet. 2020 Aug 6;107(2):364-373. doi: 10.1016/j.ajhg.2020.06.015. Epub 2020 Jul 23.
Am J Hum Genet. 2020.
PMID: 32707086
Free PMC article.
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Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders.
Lynex CN, Carr IM, Leek JP, Achuthan R, Mitchell S, Maher ER, Woods CG, Bonthon DT, Markham AF.
Lynex CN, et al.
BMC Neurol. 2004 Nov 30;4(1):20. doi: 10.1186/1471-2377-4-20.
BMC Neurol. 2004.
PMID: 15571623
Free PMC article.
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A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25.
McHale DP, Mitchell S, Bundey S, Moynihan L, Campbell DA, Woods CG, Lench NJ, Mueller RF, Markham AF.
McHale DP, et al.
Am J Hum Genet. 1999 Feb;64(2):526-32. doi: 10.1086/302237.
Am J Hum Genet. 1999.
PMID: 9973289
Free PMC article.
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Symmetry of neurological signs in Pakistani patients with probable inherited spastic cerebral palsy.
Mitchell S, Bundey S.
Mitchell S, et al.
Clin Genet. 1997 Jan;51(1):7-14. doi: 10.1111/j.1399-0004.1997.tb02406.x.
Clin Genet. 1997.
PMID: 9084927
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