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Journal Abstract Search

125 related items for PubMed ID: 37141741

  • 1. Pyrroline-5-carboxylate reductase 2 (PYCR2) deficiency causes hereditary spastic paraplaegia in late childhood.
    Sager G, Türkyilmaz A, Günbey HP, Taş İ, Ozhelvaci F, Akin Y.
    Eur J Paediatr Neurol; 2023 May; 44():51-56. PubMed ID: 37141741
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  • 2. Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.
    Meng L, Donti T, Xia F, Niu Z, Al Shamsi A, Hertecant J, Al-Jasmi F, Gibson JB, Nagakura H, Zhang J, He W, Eng C, Yang Y, Elsea SH.
    Am J Med Genet A; 2017 Feb; 173(2):460-470. PubMed ID: 27860360
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  • 4. Spastic paraplegia as the only symptom in two adult-onset patients carrying a novel pathogenic variant in PYCR2.
    Xie JJ, Ni W, Wei Q, Wu ZY.
    Eur J Neurol; 2021 Feb; 28(2):e17-e19. PubMed ID: 32920934
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  • 5. PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.
    Zaki MS, Bhat G, Sultan T, Issa M, Jung HJ, Dikoglu E, Selim L, G Mahmoud I, Abdel-Hamid MS, Abdel-Salam G, Marin-Valencia I, Gleeson JG.
    Ann Neurol; 2016 Jul; 80(1):59-70. PubMed ID: 27130255
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  • 6. Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10.
    Gürbüz BB, Gülbakan B, Özgül RK, Yalnızoğlu D, Yılmaz DY, Göçmen R, Koşukcu C, Kandemir N, Acar NV, Salih B, Dursun A.
    Am J Med Genet A; 2024 Sep; 194(9):e63645. PubMed ID: 38709052
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  • 7. A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.
    Kilic MA, Yildiz EP, Deniz A, Coskun O, Kurekci F, Avci R, Genc HM, Yesil G, Akbas S, Yesilyurt A, Kara B.
    Pediatr Neurol; 2024 Mar; 152():189-195. PubMed ID: 38301322
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  • 10. Disease variants of human Δ1-pyrroline-5-carboxylate reductase 2 (PYCR2).
    Patel SM, Seravalli J, Liang X, Tanner JJ, Becker DF.
    Arch Biochem Biophys; 2021 May 30; 703():108852. PubMed ID: 33771508
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  • 11. Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families.
    Pashaei M, Davarzani A, Hajati R, Zamani B, Nafissi S, Larti F, Nilipour Y, Rohani M, Alavi A.
    J Neurogenet; 2021 May 30; 35(2):84-94. PubMed ID: 33771085
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  • 12. Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2.
    Escande-Beillard N, Loh A, Saleem SN, Kanata K, Hashimoto Y, Altunoglu U, Metoska A, Grandjean J, Ng FM, Pomp O, Baburajendran N, Wong J, Hill J, Beillard E, Cozzone P, Zaki M, Kayserili H, Hamada H, Shiratori H, Reversade B.
    Neuron; 2020 Jul 08; 107(1):82-94.e6. PubMed ID: 32330411
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  • 13. Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1.
    Kalmár T, Maróti Z, Zimmermann A, Sztriha L.
    Brain Dev; 2021 Jan 08; 43(1):144-151. PubMed ID: 32798076
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  • 14. Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature.
    Khorrami M, Tabatabaiefar MA, Khorram E, Yaghini O, Rezaei M, Hejazifar A, Riahinezhad M, Kheirollahi M.
    J Hum Genet; 2021 Oct 08; 66(10):973-981. PubMed ID: 33767317
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  • 16. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
    Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, Fedirko E, Lejeune E, Cottineau J, Brusco A, Dollfus H, Chinnery PF, Mancini C, Ferrer X, Sole G, Destée A, Mayer JM, Fontaine B, de Seze J, Clanet M, Ollagnon E, Busson P, Cazeneuve C, Stevanin G, Kaplan J, Rozet JM, Brice A, Durr A.
    Brain; 2012 Oct 08; 135(Pt 10):2980-93. PubMed ID: 23065789
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  • 18. Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration.
    Engin Erdal A, Yürek B, Kıreker Köylü O, Ceylan AC, Çıtak Kurt AN, Kasapkara ÇS.
    J Pediatr Endocrinol Metab; 2024 Mar 25; 37(3):271-275. PubMed ID: 38353247
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  • 19. 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 04; 20(1):119. PubMed ID: 31272422
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  • 20. 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 04; 20(4):187-195. PubMed ID: 31418091
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