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  1. Article ; Online: Palliative care in Duchenne muscular dystrophy: Goals of care discussions and beyond.

    Veerapandiyan, Aravindhan / Rao, Vamshi K

    Muscle & nerve

    2022  Volume 65, Issue 6, Page(s) 627–629

    MeSH term(s) Humans ; Muscular Dystrophy, Duchenne/therapy ; Palliative Care ; Patient Care Planning ; Quality of Life
    Language English
    Publishing date 2022-04-13
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 438353-9
    ISSN 1097-4598 ; 0148-639X
    ISSN (online) 1097-4598
    ISSN 0148-639X
    DOI 10.1002/mus.27544
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1449: Show issues Location:
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    Zs.MO 551: Show issues

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  2. Article ; Online: Predicting outcomes for spinal muscular atrophy: When the diagnosis no longer means what it used to mean.

    Toaz, Erin E / Pinto, Nisha M / Rao, Vamshi K / Cheon, Eric C

    British journal of clinical pharmacology

    2023  Volume 90, Issue 2, Page(s) 613–614

    MeSH term(s) Humans ; Muscular Atrophy, Spinal/diagnosis ; Diagnosis, Differential
    Language English
    Publishing date 2023-11-24
    Publishing country England
    Document type Letter ; Comment
    ZDB-ID 188974-6
    ISSN 1365-2125 ; 0306-5251 ; 0264-3774
    ISSN (online) 1365-2125
    ISSN 0306-5251 ; 0264-3774
    DOI 10.1111/bcp.15968
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    Zs.A 1118: Show issues Location:
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  3. Article: Guidelines for Corticosteroid use in Treatment of DMD.

    Rao, Vamshi K

    Pediatric neurology briefs

    2016  Volume 30, Issue 3, Page(s) 21

    Abstract: The guideline development subcommittee of the American Academy of Neurology has provided an update to the 2005 treatment guidelines for use of corticosteroids (CS) in Duchenne muscular dystrophy (DMD). ...

    Abstract The guideline development subcommittee of the American Academy of Neurology has provided an update to the 2005 treatment guidelines for use of corticosteroids (CS) in Duchenne muscular dystrophy (DMD).
    Language English
    Publishing date 2016-07-11
    Publishing country United States
    Document type Comment ; Journal Article
    ISSN 1043-3155
    ISSN 1043-3155
    DOI 10.15844/pedneurbriefs-30-3-4
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  4. Article: Orofacial EMG in Congenital Multiple Cranial Neuropathies.

    Rao, Vamshi K

    Pediatric neurology briefs

    2016  Volume 29, Issue 9, Page(s) 68

    Abstract: Investigators from Armand-Trousseau hospital and University of Paris studied 90 infants aged birth to 6 months with multiple cranial nerve involvement. ...

    Abstract Investigators from Armand-Trousseau hospital and University of Paris studied 90 infants aged birth to 6 months with multiple cranial nerve involvement.
    Language English
    Publishing date 2016-02-22
    Publishing country United States
    Document type Journal Article
    ISSN 1043-3155
    ISSN 1043-3155
    DOI 10.15844/pedneurbriefs-29-9-3
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  5. Article: A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the

    Tranel, Elizabeth S / McGowan, Bridget / Drackley, Andy / Epstein, Leon G / Rao, Vamshi K / Kuntz, Nancy L / Schwaede, Abigail N

    Molecular genetics and metabolism reports

    2024  Volume 38, Page(s) 101051

    Abstract: Riboflavin transporter deficiency (RTD) is a neurodegenerative disorder that presents from infancy to adulthood with a progressive axonal neuropathy characterized by a variety of neurologic symptoms including hearing loss, weakness, bulbar palsy, and ... ...

    Abstract Riboflavin transporter deficiency (RTD) is a neurodegenerative disorder that presents from infancy to adulthood with a progressive axonal neuropathy characterized by a variety of neurologic symptoms including hearing loss, weakness, bulbar palsy, and respiratory insufficiency. Pathogenic variants in
    Language English
    Publishing date 2024-01-15
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2821908-9
    ISSN 2214-4269
    ISSN 2214-4269
    DOI 10.1016/j.ymgmr.2024.101051
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  6. Article: Utility of Repetitive Nerve Stimulation in Myopathies.

    Schwaede, Abigail / Buehner, Amber N / Rao, Vamshi K

    Pediatric neurology briefs

    2020  Volume 34, Page(s) 4

    Abstract: Investigators from the Mayo Clinic, Rochester, MN, evaluated 157 patients with confirmed myopathy who had electrodiagnostic studies done between January 2007 and May 2017. ...

    Abstract Investigators from the Mayo Clinic, Rochester, MN, evaluated 157 patients with confirmed myopathy who had electrodiagnostic studies done between January 2007 and May 2017.
    Language English
    Publishing date 2020-02-25
    Publishing country United States
    Document type Journal Article ; Comment
    ISSN 1043-3155
    ISSN 1043-3155
    DOI 10.15844/pedneurbriefs-34-4
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  7. Article ; Online: Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report.

    Munson, Hannah E / De Simone, Lenika / Schwaede, Abigail / Bhatia, Avanti / Mithal, Divakar S / Young, Nancy / Kuntz, Nancy / Rao, Vamshi K

    BMC medical genomics

    2023  Volume 16, Issue 1, Page(s) 278

    Abstract: Background: Perrault Syndrome (PRLTS) is a rare, autosomal recessive disorder that presents with bilateral sensorineural hearing loss in all patients and gonadal dysfunction in females. It has been linked to variants in CLPP, ERAL1, HARS2, HSD17B4, ... ...

    Abstract Background: Perrault Syndrome (PRLTS) is a rare, autosomal recessive disorder that presents with bilateral sensorineural hearing loss in all patients and gonadal dysfunction in females. It has been linked to variants in CLPP, ERAL1, HARS2, HSD17B4, LARS2, and TWNK genes. All reported cases due to TWNK variants have included neurologic features, such as ataxia and axonal sensorimotor neuropathy.
    Case presentation: A 4.5-year-old female presented to neuromuscular clinic due to ataxia. Neurological examination revealed truncal ataxia and steppage gait, reduced deep tendon reflexes, and axonal sensorimotor polyneuropathy. Auditory brainstem response testing revealed an uncommon type of sensorineural hearing loss known as auditory neuropathy/auditory synaptopathy (AN/AS) affecting both ears. Magnetic Resonance Imaging (MRI) revealed subtle cauda equina enhancement. Nerve conduction studies led to a provisional diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP), and intravenous immune globulin (IVIG) was initiated. The patient was unresponsive to treatment, thus whole exome testing (WES) was conducted in tandem with IVIG weaning. WES revealed a compound heterozygous state with two variants in the TWNK gene and a diagnosis of Perrault Syndrome was made.
    Conclusions: Perrault Syndrome should be considered in the differential for children who present with bilateral sensorineural hearing loss, axonal polyneuropathy, and ataxia. Further examination includes testing for ovarian dysgenesis and known PRLTS genetic variants.
    MeSH term(s) Child, Preschool ; Female ; Humans ; Amino Acyl-tRNA Synthetases/genetics ; Ataxia ; Hearing Loss, Sensorineural/genetics ; Immunoglobulins, Intravenous/genetics ; Mutation ; Polyneuropathies
    Chemical Substances Amino Acyl-tRNA Synthetases (EC 6.1.1.-) ; Immunoglobulins, Intravenous ; LARS2 protein, human (EC 6.1.1.4)
    Language English
    Publishing date 2023-11-06
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 2411865-5
    ISSN 1755-8794 ; 1755-8794
    ISSN (online) 1755-8794
    ISSN 1755-8794
    DOI 10.1186/s12920-023-01599-4
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  8. Article ; Online: Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16.

    Drackley, Andy / De Simone, Lenika / Kuntz, Nancy / Rahmani, Safa / Ing, Alexander / Rao, Vamshi K / Rathbun, Pamela / Yap, Kai Lee

    American journal of medical genetics. Part A

    2023  Volume 194, Issue 1, Page(s) 53–58

    Abstract: Pathogenic heterozygous variants in DHX16 have been recently identified in association with a variety of clinical features, including neuromuscular disease, sensorineural hearing loss, ocular anomalies, and other phenotypes. All DHX16 disease-causing ... ...

    Abstract Pathogenic heterozygous variants in DHX16 have been recently identified in association with a variety of clinical features, including neuromuscular disease, sensorineural hearing loss, ocular anomalies, and other phenotypes. All DHX16 disease-causing variants previously reported in affected individuals are missense in nature, nearly all of which were found to be de novo. Here we report on a patient with neuromuscular disease, hearing loss, retinal degeneration, and previously unreported phenotypic features including mitochondrial deficiency and primary ovarian insufficiency, in whom a novel de novo likely pathogenic variant in DHX16 NM_003587.4:c.2033A > G (p.Glu678Gly) was identified. Furthermore, we conducted an in-depth literature review of DHX16's role in disease and utilized high-performing in silico prediction algorithms to compare and contrast the predicted effects of all reported disease-associated DHX16 variants on protein structure and function.
    MeSH term(s) Humans ; Mutation, Missense/genetics ; Phenotype ; Heterozygote ; Mitochondria ; Neuromuscular Diseases ; RNA Helicases/genetics
    Chemical Substances DHX16 protein, human (EC 2.7.7.-) ; RNA Helicases (EC 3.6.4.13)
    Language English
    Publishing date 2023-09-04
    Publishing country United States
    Document type Review ; Case Reports
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.63392
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    Zs.A 1376/A: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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  9. Article ; Online: Gene Therapy for Spinal Muscular Atrophy: An Emerging Treatment Option for a Devastating Disease.

    Rao, Vamshi K / Kapp, Daniel / Schroth, Mary

    Journal of managed care & specialty pharmacy

    2019  Volume 24, Issue 12-a Suppl, Page(s) S3–S16

    Abstract: Background: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that, in most cases, involves homozygous deletion of the SMN1 gene. This causes a deficiency in survival motor neuron (SMN) protein, which plays a critical ... ...

    Abstract Background: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that, in most cases, involves homozygous deletion of the SMN1 gene. This causes a deficiency in survival motor neuron (SMN) protein, which plays a critical role in motor neuron development. SMA has a range of phenotype expression resulting in variable age of symptom onset, maximum motor strength achieved, and survival. Without intervention, infants with a more severe form of the disease (type 1 SMA) die before 2 years of age. Although it is rare, SMA is the most common fatal inherited disease of infancy, and until recently, treatment was primarily supportive. In 2016, a new agent, nusinersen, was approved by the FDA. Other treatments are in development, including a gene therapy, AVXS-101. These treatments are not only improving the lives of patients with SMA and their families, they are changing the disease phenotype. They have the greatest benefit when given early in the disease course.
    Objectives: To discuss current knowledge about SMA, provide clinical evidence for available and emerging treatment options, and present approaches for adding new therapies to hospital/health system formularies to ensure timely access to newly approved therapies for SMA.
    Summary: Advances in clinical care have significantly extended the lives of individuals with SMA, and research into the genetic mechanisms leading to disease have revealed strategies for intervention that target the underlying cause of SMA. Nusinersen is now on the market, and other treatment options, such as AVXS-101, may soon be approved. This article provides an overview of SMA and the genetic mechanisms leading to SMN deficiency, then describes how new and emerging treatments work to overcome this deficiency and prevent associated nerve damage and disability. In addition, we discuss steps for incorporating AVXS-101 into hospital/health system formularies, along with barriers and concerns that may delay access, based in part on lessons learned with nusinersen.
    MeSH term(s) Clinical Trials as Topic ; Dependovirus/genetics ; Drug Approval ; Exons/drug effects ; Exons/genetics ; Gene Deletion ; Genetic Therapy/economics ; Genetic Therapy/legislation & jurisprudence ; Genetic Therapy/methods ; Genetic Therapy/trends ; Genetic Vectors/genetics ; Genetic Vectors/therapeutic use ; Health Services Needs and Demand/trends ; Humans ; Muscular Atrophy, Spinal/diagnosis ; Muscular Atrophy, Spinal/genetics ; Muscular Atrophy, Spinal/mortality ; Muscular Atrophy, Spinal/therapy ; Oligonucleotides/economics ; Oligonucleotides/pharmacology ; Oligonucleotides/therapeutic use ; Sarcomeres/drug effects ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 2 Protein/genetics ; United States ; United States Food and Drug Administration
    Chemical Substances Oligonucleotides ; SMN1 protein, human ; SMN2 protein, human ; Survival of Motor Neuron 1 Protein ; Survival of Motor Neuron 2 Protein ; nusinersen (5Z9SP3X666)
    Language English
    Publishing date 2019-09-04
    Publishing country United States
    Document type Journal Article ; Review
    ISSN 2376-1032
    ISSN (online) 2376-1032
    DOI 10.18553/jmcp.2018.24.12-a.s3
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: Spinal Muscular Atrophy Diagnosed by Newborn Screening.

    Lopez-Chacon, Matias / Buehner, Amber N / Rao, Vamshi K

    Pediatric neurology briefs

    2019  Volume 33, Page(s) 5

    Abstract: A panel of experts representing academic centers, family foundations and pharmaceutical industry came together to formulate a treatment algorithm for infants diagnosed via newborn screening (NBS) with Spinal muscular atrophy (SMA). ...

    Abstract A panel of experts representing academic centers, family foundations and pharmaceutical industry came together to formulate a treatment algorithm for infants diagnosed via newborn screening (NBS) with Spinal muscular atrophy (SMA).
    Language English
    Publishing date 2019-12-31
    Publishing country United States
    Document type Journal Article ; Comment
    ISSN 1043-3155
    ISSN 1043-3155
    DOI 10.15844/pedneurbriefs-33-5
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