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Journal Abstract Search

216 related items for PubMed ID: 28254648

  • 1. Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.
    Lakhani S, Doan R, Almureikhi M, Partlow JN, Al Saffar M, Elsaid MF, Alaaraj N, James Barkovich A, Walsh CA, Ben-Omran T.
    Eur J Med Genet; 2017 May; 60(5):245-249. PubMed ID: 28254648
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  • 5. CNTNAP1-Related Congenital Hypomyelinating Neuropathy.
    Lesmana H, Vawter Lee M, Hosseini SA, Burrow TA, Hallinan B, Bove K, Schapiro M, Hopkin RJ.
    Pediatr Neurol; 2019 Apr; 93():43-49. PubMed ID: 30686628
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  • 6. First report of SYNE1 arthrogryposis multiplex congenita from Saudi Arabia with a novel mutation: a case report.
    Kamal NM, Alzeky AM, Omair MR, Attar RA, Alotaibi AM, Safar A, Alosaimi NS, Abosabie SAS.
    Ital J Pediatr; 2022 Jun 23; 48(1):107. PubMed ID: 35739559
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  • 7. CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.
    Hengel H, Magee A, Mahanjah M, Vallat JM, Ouvrier R, Abu-Rashid M, Mahamid J, Schüle R, Schulze M, Krägeloh-Mann I, Bauer P, Züchner S, Sharkia R, Schöls L.
    Neurol Genet; 2017 Apr 23; 3(2):e144. PubMed ID: 28374019
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  • 8. Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.
    Ravenscroft G, Nolent F, Rajagopalan S, Meireles AM, Paavola KJ, Gaillard D, Alanio E, Buckland M, Arbuckle S, Krivanek M, Maluenda J, Pannell S, Gooding R, Ong RW, Allcock RJ, Carvalho ED, Carvalho MD, Kok F, Talbot WS, Melki J, Laing NG.
    Am J Hum Genet; 2015 Jun 04; 96(6):955-61. PubMed ID: 26004201
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  • 9. Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.
    Maluenda J, Manso C, Quevarec L, Vivanti A, Marguet F, Gonzales M, Guimiot F, Petit F, Toutain A, Whalen S, Grigorescu R, Coeslier AD, Gut M, Gut I, Laquerrière A, Devaux J, Melki J.
    Am J Hum Genet; 2016 Oct 06; 99(4):928-933. PubMed ID: 27616481
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  • 10. Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.
    Ekhilevitch N, Kurolap A, Oz-Levi D, Mory A, Hershkovitz T, Ast G, Mandel H, Baris HN.
    Clin Genet; 2016 Jul 06; 90(1):84-9. PubMed ID: 26661508
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  • 15. Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.
    Xue S, Maluenda J, Marguet F, Shboul M, Quevarec L, Bonnard C, Ng AY, Tohari S, Tan TT, Kong MK, Monaghan KG, Cho MT, Siskind CE, Sampson JB, Rocha CT, Alkazaleh F, Gonzales M, Rigonnot L, Whalen S, Gut M, Gut I, Bucourt M, Venkatesh B, Laquerrière A, Reversade B, Melki J.
    Am J Hum Genet; 2017 Apr 06; 100(4):659-665. PubMed ID: 28318499
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  • 16. Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.
    Low KJ, Stals K, Caswell R, Wakeling M, Clayton-Smith J, Donaldson A, Foulds N, Norman A, Splitt M, Urankar K, Vijayakumar K, Majumdar A, Study D, Ellard S, Smithson SF.
    Eur J Hum Genet; 2018 Jun 06; 26(6):796-807. PubMed ID: 29511323
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  • 17. The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
    Dieterich K, Quijano-Roy S, Monnier N, Zhou J, Fauré J, Smirnow DA, Carlier R, Laroche C, Marcorelles P, Mercier S, Mégarbané A, Odent S, Romero N, Sternberg D, Marty I, Estournet B, Jouk PS, Melki J, Lunardi J.
    Hum Mol Genet; 2013 Apr 15; 22(8):1483-92. PubMed ID: 23236030
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  • 20. A mild phenotype of LGI4-Related arthrogryposis multiplex congenita with intrafamilial variability.
    Mishra S, Rai A, Srivastava P, Phadke SR.
    Eur J Med Genet; 2020 Mar 15; 63(3):103756. PubMed ID: 31513940
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