Search Results - "Schwarz, Anisha"

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  1. 1
    CHRNB1‐associated congenital myasthenia syndrome: Expanding the clinical spectrum

    CHRNB1‐associated congenital myasthenia syndrome: Expanding the clinical spectrum by Freed, Amanda S., Schwarz, Anisha C., Brei, Brianna K., Clowes Candadai, Sarah V., Thies, Jenny, Mah, Jean K., Chabra, Shilpi, Wang, Leo, Innes, A. Micheil, Bennett, James T.

    “…CHRNB1 encodes the β subunit of the acetylcholine receptor (AChR) at the neuromuscular junction. Inherited defects in the neuromuscular junction can lead to…”
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  2. 2
    A novel pediatric presentation of epilepsy, nonanesthetic malignant hyperthermia, and congenital developmental delay associated with likely pathologic RYR1 variant. (P4.080)

    A novel pediatric presentation of epilepsy, nonanesthetic malignant hyperthermia, and congenital developmental delay associated with likely pathologic RYR1 variant. (P4.080) by Schwarz, Anisha, Huang, Sarah Bauer

    Published in Neurology (18-04-2017)
    “…Abstract only…”
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  3. 3
    A 15-Year-Old Boy With Trisomy 21 and Postoperative Weakness

    A 15-Year-Old Boy With Trisomy 21 and Postoperative Weakness by Schwarz, Anisha Chandra, Amlie-Lefond, Catherine

    Published in JAMA pediatrics (01-01-2016)
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  4. 4
    Electrodiagnostic elucidation of a novel variant in the acetylcholine receptor gene identified by rapid trio exome sequencing, leading to the diagnosis and treatment of congenital myasthenia syndrome in an infant presenting with fetal akinesia deformation sequence. (P3.7-006)

    Electrodiagnostic elucidation of a novel variant in the acetylcholine receptor gene identified by rapid trio exome sequencing, leading to the diagnosis and treatment of congenital myasthenia syndrome in an infant presenting with fetal akinesia deformation sequence. (P3.7-006) by Schwarz, Anisha, Freed, Amanda, Brei, Brianna, Candadai, Sarah Clowes, Chabra, Shilpi, Wang, Leo, Bennett, James

    Published in Neurology (09-04-2019)
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