Germline mutation in DOK7 associated with fetal akinesia deformation sequence.

Germline mutation in DOK7 associated with fetal akinesia deformation sequence.

BACKGROUND: Fetal akinesia deformation sequence syndrome (FADS) is a heterogeneous disorder characterised by fetal akinesia and developmental defects including, in some case, pterygia. Multiple pterygium syndromes (MPS) are traditionally divided into prenatally lethal and non-lethal (such as Escobar...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون:	Vogt, J, Morgan, N, Marton, T, Maxwell, S, Harrison, B, Beeson, D, Maher, E
التنسيق:	Journal article
اللغة:	English
منشور في:	2009

مواد مشابهة

Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
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منشور في: (2008)

Mutation analysis of CHRNA1, CHRNB1, CHRND and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients
حسب: Vogt, J, وآخرون
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Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.
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The spectrum of mutations that underlie the DOK7 neuromuscular junction synaptopathy, and the patient response to treatment
حسب: Beeson, D, وآخرون
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The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
حسب: Cossins, J, وآخرون
منشور في: (2012)

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.
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Ephedrine treatment in DOK7 CMS and investigation of potential mechanisms
حسب: Cossins, J, وآخرون
منشور في: (2010)

Clinical features of the DOK7 neuromuscular junction synaptopathy.
حسب: Palace, J, وآخرون
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Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.
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Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations.
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Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review
حسب: Jill K. Tjon, وآخرون
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Multiple Pterygium Syndrome: A Case Report, Comparison with Fetal Akinesia Sequence and Pterygium Syndrome
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Dok-7/MuSK signaling and a congenital myasthenic syndrome.
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The effect of dok-7 on acetylcholine receptor clustering in C2C12 cells
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EPHEDRINE TREATMENT RESULTS IN PROFOUND FUNCTIONAL IMPROVEMENTS IN DOK-7 CONGENITAL MYASTHENIA
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منشور في: (2009)

DOK7 congenital myasthenic syndrome.
حسب: Palace, J
منشور في: (2012)

Long-term muscle-specific overexpression of DOK7 in mice using AAV9-tMCK-DOK7
حسب: Yu-Ting Huang, وآخرون
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Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome
حسب: Masatake Toshimitsu, وآخرون
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Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile
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Mutations in dok-7 underlie a congenital myasthenic syndrome with a (sic)Limb girdle broken vertical bar pattern of muscle weakness.
حسب: Beeson, D, وآخرون
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Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome.
حسب: Jephson, C, وآخرون
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Congenital myasthenia: contrasting rapsyn and Dok-7 phenotypes
حسب: Palace, J
منشور في: (2010)

Lateral pallidotomy exacerbates akinesia in the Parkinsonian patient.
حسب: Munro-Davies, L, وآخرون
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DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.
حسب: Klein, A, وآخرون
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DOK7 congenital myasthenic syndrome in childhood: Early diagnostic clues in 23 children
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Silencing of Dok-7 in adult rat muscle increases susceptibility to passive transfer myasthenia gravis
حسب: Gomez, A, وآخرون
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Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction.
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