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1 . Academic Journal
A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type
저자
by
Tuğba Daşar
;
Sandra Donkervoort
;
Pelin Özlem Şimşek Kiper
;
Rahşan Göçmen
;
Gülen Eda Utine
, et al.
소스
Journal of Pediatric Research, Vol 9, Iss 3, Pp 297-301 (2022)
Open Access (DOAJ)
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7 . Academic Journal
P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies
저자
by
Marina DiStefano
;
Ryan Webb
;
Hannah McCurry
;
Shannon McNulty Gray
;
Swati Tomar
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100499- (2023)
Full Text (Clinical Key)
Full Text (ScienceDirect)
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7 . Academic Journal
Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy.
저자
by
Dandan Tan
;
Haipo Yang
;
Yun Yuan
;
Carsten Bonnemann
;
Xingzhi Chang
, et al.
소스
PLoS ONE, Vol 10, Iss 6, p e0129699 (2015)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy.
저자
by
Richard S Finkel
;
Kevin M Flanigan
;
Brenda Wong
;
Carsten Bönnemann
;
Jacinda Sampson
, et al.
소스
PLoS ONE, Vol 8, Iss 12, p e81302 (2013)
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Web of Science
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7 . Academic Journal
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.
저자
by
C Alexander Valencia
;
Arunkanth Ankala
;
Devin Rhodenizer
;
Shruti Bhide
;
Martin Robert Littlejohn
, et al.
소스
PLoS ONE, Vol 8, Iss 1, p e53083 (2013)
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Web of Science
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7 .
253rd ENMC international workshop: Striated muscle laminopathies - natural history and clinical trial readiness. 24–26 June 2022, Hoofddorp, the Netherlands
저자
by
Lorenzo Maggi
;
Susana Quijano-Roy
;
Carsten Bönnemann
;
Gisèle Bonne
;
Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS)
, et al.
소스
Neuromuscular Disorders
Neuromuscular Disorders, 2023, ⟨10.1016/j.nmd.2023.04.009⟩
Full Text (Clinical Key)
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7 .
A recurrent homozygous missense
DPM3
variant leads to muscle and brain disease
저자
by
Sara Nagy
;
Tracy Lau
;
Shahryar Alavi
;
Ehsan Ghayoor Karimiani
;
Jalal Vallian
, et al.
소스
Clinical Genetics
. 102:530-536
Open Access (OpenAIRE)
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7 .
Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders
저자
by
Beverly L. Davidson
;
Guangping Gao
;
Elizabeth Berry-Kravis
;
Allison M. Bradbury
;
Carsten Bönnemann
, et al.
소스
Molecular Therapy
. 30:2416-2428
Full Text (ScienceDirect O/A)
Open Access (OpenAIRE)
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7 .
Intermediate filament dysregulation and astrocytopathy in the human disease model of KLHL16 mutation in giant axonal neuropathy (GAN)
저자
by
Rachel Battaglia
;
Maryam Faridounnia
;
Adriana Beltran
;
Jasmine Robinson
;
Karina Kinghorn
, et al.
소스
bioRxiv
Open Access (OpenAIRE)
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7 .
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum
저자
by
Magdalena Mroczek
;
Cheryl Longman
;
Maria Elena Farrugia
;
Solange Kapetanovic Garcia
;
Didem Ardicli
, et al.
소스
J Med Genet
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