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1

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Safety and efficacy of arimoclomol for inclusion body myositis: a multicentre, randomised, double-blind, placebo-controlled trial

Machado, Pedro M ; McDermott, Michael P ; Blaettler, Thomas ; [et al.]

Elsevier BV ; 2023

In: The Lancet Neurology Vol. 22, No. 10 ( 2023-10), p. 900-911

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In: The Lancet Neurology, Elsevier BV, Vol. 22, No. 10 ( 2023-10), p. 900-911

Type of Medium: Online Resource

ISSN: 1474-4422

URL: Article

DOI: 10.1016/S1474-4422(23)00275-2

Language: English

Publisher: Elsevier BV

Publication Date: 2023

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Long-term effect of thymectomy plus prednisone versus prednisone alone in patients with non-thymomatous myasthenia gravis: 2-year extension of the MGTX randomised trial

Wolfe, Gil I ; Kaminski, Henry J ; Aban, Inmaculada B ; [et al.]

Elsevier BV ; 2019

In: The Lancet Neurology Vol. 18, No. 3 ( 2019-03), p. 259-268

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In: The Lancet Neurology, Elsevier BV, Vol. 18, No. 3 ( 2019-03), p. 259-268

Type of Medium: Online Resource

ISSN: 1474-4422

URL: Article

DOI: 10.1016/S1474-4422(18)30392-2

Language: English

Publisher: Elsevier BV

Publication Date: 2019

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3

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Implementation of Population-Based Newborn Screening Reveals Low Incidence of Spinal Muscular Atrophy

Kay, Denise M. ; Stevens, Colleen F. ; Parker, April ; [et al.]

Ovid Technologies (Wolters Kluwer Health) ; 2021

In: Obstetrical & Gynecological Survey Vol. 76, No. 1 ( 2021-1), p. 17-19

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In: Obstetrical & Gynecological Survey, Ovid Technologies (Wolters Kluwer Health), Vol. 76, No. 1 ( 2021-1), p. 17-19

Abstract: (Abstracted from Genet Med 2020;22:1296–1302) Spinal muscular atrophy (SMA) is a neurodevelopmental disorder that is associated with muscle weakness and atrophy. There are several subtypes that are categorized as SMA type 1 (presenting in early infancy), where infants are unable to sit unassisted; SMA type 2 (presenting between 6 and 18 months of age), where patients are unable to walk independently; SMA type 3 (presenting after 18 months of age), where some patients were able to walk independently, but others lose this ability; and SMA type 4 (presenting in adulthood), which is rare and less severe.

Type of Medium: Online Resource

ISSN: 1533-9866 , 0029-7828

URL: Article

DOI: 10.1097/01.ogx.0000725696.50424.24

Language: English

Publisher: Ovid Technologies (Wolters Kluwer Health)

Publication Date: 2021

detail.hit.zdb_id: 2043471-6

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4

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The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy

Thangarajh, Mathula ; Elfring, Gary L. ; Trifillis, Panayiota ; [et al.]

Ovid Technologies (Wolters Kluwer Health) ; 2018

In: Neurology Vol. 91, No. 13 ( 2018-09-25)

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In: Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 91, No. 13 ( 2018-09-25)

Type of Medium: Online Resource

ISSN: 0028-3878 , 1526-632X

URL: Article

DOI: 10.1212/WNL.0000000000006245

RVK:

XA 10000

Language: English

Publisher: Ovid Technologies (Wolters Kluwer Health)

Publication Date: 2018

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5

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Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy

Kay, Denise M. ; Stevens, Colleen F. ; Parker, April ; [et al.]

Elsevier BV ; 2020

In: Genetics in Medicine Vol. 22, No. 8 ( 2020-08), p. 1296-1302

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In: Genetics in Medicine, Elsevier BV, Vol. 22, No. 8 ( 2020-08), p. 1296-1302

Type of Medium: Online Resource

ISSN: 1098-3600

URL: Article

DOI: 10.1038/s41436-020-0824-3

Language: English

Publisher: Elsevier BV

Publication Date: 2020

detail.hit.zdb_id: 2063504-7

SSG: 12

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6

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Newborn Screening for Spinal Muscular Atrophy in New York State : Clinical Outcomes From the First 3 Years

Lee, Bo Hoon ; Deng, Stella ; Chiriboga, Claudia A. ; [et al.]

Ovid Technologies (Wolters Kluwer Health) ; 2022

In: Neurology Vol. 99, No. 14 ( 2022-10-4), p. e1527-e1537

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In: Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 99, No. 14 ( 2022-10-4), p. e1527-e1537

Abstract: Spinal muscular atrophy (SMA) was added to the Recommended Uniform Screening Panel in July 2018 largely on the basis of the availability and efficacy of newly approved disease-modifying therapies. New York State (NYS) started universal newborn screening for SMA in October 2018. The authors report the findings from the first 3 years of screening. Methods Statewide neonatal screening was conducted using DNA extracted from dried blood spots using a real-time quantitative PCR assay. Retrospective follow-up data were collected from 9 referral centers across the state on 34 infants. Results In the first 3 years since statewide implementation, nearly 650,000 infants have been screened for SMA. Thirty-four babies screened positive and were referred to a neuromuscular specialty care center. The incidence remains lower than previously predicted. The majority (94%), including all infants with 2–3 copies of survival motor neuron ( SMN) 2, have received treatment. Among treated infants, the overwhelming majority (94%; 30/32) have received gene replacement. All infants in this cohort with 3 copies of SMN2 are clinically asymptomatic posttreatment based on early clinical follow-up data. Infants with 2 copies of SMN2 are more variable in their outcomes. Electrodiagnostic outcomes data obtained from a subgroup of patients (n = 11) demonstrated either improvement or no change in compound muscle action potential (CMAP) amplitude at last clinical follow-up compared with pretreatment baseline. Most infants were treated before 6 weeks of age (median = 34.5 days of life; range 11–180 days). Delays and barriers to treatment identified by treating clinicians followed 2 broad themes: medical and nonmedical. Medical delays most commonly reported were the presence of AAV9 antibodies and elevated troponin I levels. Nonmedical barriers included delays in obtaining insurance and insurance policies regarding specific treatment modalities. Discussion The findings from the NYS cohort of newborn screen-identified infants are consistent with other reports of improved outcomes from early diagnosis and treatment. Additional biomarkers of motor neuron health including EMG can potentially be helpful in detecting preclinical decline.

Type of Medium: Online Resource

ISSN: 0028-3878 , 1526-632X

URL: Article

DOI: 10.1212/WNL.0000000000200986

RVK:

XA 10000

Language: English

Publisher: Ovid Technologies (Wolters Kluwer Health)

Publication Date: 2022

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7

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Parent Perceptions in Choosing Treatment for Infants With Spinal Muscular Atrophy Diagnosed Through Newborn Screening

Deng, Stella ; Lee, Bo Hoon ; Ciafaloni, Emma

SAGE Publications ; 2022

In: Journal of Child Neurology Vol. 37, No. 1 ( 2022-01), p. 43-49

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In: Journal of Child Neurology, SAGE Publications, Vol. 37, No. 1 ( 2022-01), p. 43-49

Abstract: To identify factors parents considered in treatment decision making for children diagnosed with spinal muscular atrophy on newborn screening. Methods: Participants were recruited through the University of Rochester or through flyers and Cure SMA social media outreach and asked to complete a telephone or online survey. Data were analyzed through mixed methods using descriptive statistics and theme identification in narrative responses. Results: Eighteen parents with children diagnosed with spinal muscular atrophy on newborn screening participated. Thirteen of 18 chose onasemnogene abeparvovec, 2 of 18 chose risdiplam, 1 of 18 chose nusinersen, and 2 of 18 did not receive treatment. The most commonly reported factors impacting treatment choice included treatment frequency and administration method. Seventeen (94.4%) parents felt that inclusion of spinal muscular atrophy on newborn screening was positive because it could allow for better outcomes with earlier treatment. Conclusion: Treatment frequency and administration method were the most important factors for parents in determining spinal muscular atrophy treatment. Parents felt positively about newborn screening due to opportunity for earlier treatment.

Type of Medium: Online Resource

ISSN: 0883-0738 , 1708-8283

URL: Article

DOI: 10.1177/08830738211040292

Language: English

Publisher: SAGE Publications

Publication Date: 2022

detail.hit.zdb_id: 2068710-2

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8

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Minimal manifestation status and prednisone withdrawal in the MGTX trial

Lee, Ikjae ; Kuo, Hui-Chien ; Aban, Inmaculada B. ; [et al.]

Ovid Technologies (Wolters Kluwer Health) ; 2020

In: Neurology Vol. 95, No. 6 ( 2020-08-11), p. e755-e766

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In: Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 95, No. 6 ( 2020-08-11), p. e755-e766

Abstract: To examine whether sustained minimal manifestation status (MMS) with complete withdrawal of prednisone is better achieved in thymectomized patients with myasthenia gravis (MG). Methods This study is a post hoc analysis of data from a randomized trial of thymectomy in MG (Thymectomy Trial in Non-Thymomatous Myasthenia Gravis Patients Receiving Prednisone Therapy [MGTX]). MGTX was a multicenter, randomized, rater-blinded 3-year trial that was followed by a voluntary 2-year extension for patients with acetylcholine receptor (AChR) antibody–positive MG without thymoma. Patients were randomized 1:1 to thymectomy plus prednisone vs prednisone alone. Participants were age 18–65 years at enrollment with disease duration less than 5 years. All patients received oral prednisone titrated up to 100 mg on alternate days until they achieved MMS, which prompted a standardized prednisone taper as long as MMS was maintained. The achievement rate of sustained MMS (no symptoms of MG for 6 months) with complete withdrawal of prednisone was compared between the thymectomy plus prednisone and prednisone alone groups. Results Patients with MG in the thymectomy plus prednisone group achieved sustained MMS with complete withdrawal of prednisone more frequently (64% vs 38%) and quickly compared to the prednisone alone group (median time 30 months vs no median time achieved, p 〈 0.001) over the 5-year study period. Prednisone-associated adverse symptoms were more frequent in the prednisone alone group and distress level increased with higher doses of prednisone. Conclusions Thymectomy benefits patients with MG by increasing the likelihood of achieving sustained MMS with complete withdrawal of prednisone. Clinicaltrials.gov identifier NCT00294658. Classification of evidence This study provides Class II evidence that for patients with generalized MG with AChR antibody, those receiving thymectomy plus prednisone are more likely to attain sustained MMS and complete prednisone withdrawal than those on prednisone alone.

Type of Medium: Online Resource

ISSN: 0028-3878 , 1526-632X

URL: Article

DOI: 10.1212/WNL.0000000000010031

RVK:

XA 10000

Language: English

Publisher: Ovid Technologies (Wolters Kluwer Health)

Publication Date: 2020

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9

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Antibodies in Sera of Patients with Late‐Onset Myasthenia Gravis Recognize the PEVK Domain of Titin

MIHOVILOVIC, MIRTA ; CIAFALONI, EMMA ; BUTTERWORTH‐ROBINETTE, JENNIFER ; [et al.]

Wiley ; 2003

In: Annals of the New York Academy of Sciences Vol. 998, No. 1 ( 2003-09), p. 351-355

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In: Annals of the New York Academy of Sciences, Wiley, Vol. 998, No. 1 ( 2003-09), p. 351-355

Type of Medium: Online Resource

ISSN: 0077-8923 , 1749-6632

URL: Article

DOI: 10.1196/annals.1254.040

RVK:

TD 7650

Language: English

Publisher: Wiley

Publication Date: 2003

detail.hit.zdb_id: 2834079-6

detail.hit.zdb_id: 211003-9

detail.hit.zdb_id: 2071584-5

SSG: 11

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10

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Cardiovascular health supervision for Duchenne Muscular Dystrophy; data from the MD STARnet

Wittlieb-Weber, Carol A. ; Pantea, Cristian ; Krikov, Sergey ; [et al.]

Elsevier BV ; 2018

In: Progress in Pediatric Cardiology Vol. 48 ( 2018-03), p. 98-104

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In: Progress in Pediatric Cardiology, Elsevier BV, Vol. 48 ( 2018-03), p. 98-104

Type of Medium: Online Resource

ISSN: 1058-9813

URL: Article

DOI: 10.1016/j.ppedcard.2018.01.012

Language: English

Publisher: Elsevier BV

Publication Date: 2018

detail.hit.zdb_id: 2008878-4

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Kooperativer Bibliotheksverbund

Berlin Brandenburg