REVIEW
|
doi:10.20944/preprints202407.0141.v1
Subject:
Biology And Life Sciences,
Biology And Biotechnology
Keywords:
caveolae; caveolin; NOS; Duchenne muscular dystrophy; limb-girdle muscular dystrophy; gut microbiota; probiotics
Online: 2 July 2024 (08:18:55 CEST)
ARTICLE
|
doi:10.20944/preprints202406.1470.v1
Subject:
Medicine And Pharmacology,
Complementary And Alternative Medicine
Keywords:
muscular dystrophy; osmolytes; autophagy; mitophagy
Online: 21 June 2024 (02:47:56 CEST)
ARTICLE
|
doi:10.20944/preprints202105.0503.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
JAK; STAT3; emerin; muscular dystrophy
Online: 21 May 2021 (08:31:25 CEST)
ARTICLE
|
doi:10.20944/preprints202408.2276.v1
Subject:
Medicine And Pharmacology,
Ophthalmology
Keywords:
Cornea; Dystrophy; Treatment Lasers; Ocular surface
Online: 30 August 2024 (19:20:56 CEST)
REVIEW
|
doi:10.20944/preprints202212.0519.v1
Subject:
Medicine And Pharmacology,
Ophthalmology
Keywords:
inherited; retinal; dystrophy; indigenous, black, Africa; genetics
Online: 27 December 2022 (10:45:25 CET)
ARTICLE
|
doi:10.20944/preprints202406.0215.v1
Subject:
Biology And Life Sciences,
Biology And Biotechnology
Keywords:
stem cells; retinal dystrophy; neuroprotection; electroretinogram; intraocular injection
Online: 4 June 2024 (15:13:18 CEST)
REVIEW
|
doi:10.20944/preprints202405.0015.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Duchenne muscular dystrophy; cardiomyopathy; inflammation; skeletal muscle; adiponectin
Online: 1 May 2024 (07:27:08 CEST)
ARTICLE
|
doi:10.20944/preprints202402.1140.v2
Subject:
Medicine And Pharmacology,
Other
Keywords:
neurofibromatosis type 1; cone-rod dystrophy; molecular diagnosis; rare association
Online: 12 April 2024 (14:32:30 CEST)
ARTICLE
|
doi:10.20944/preprints202301.0297.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Congenital Hereditary Endothelial Dystrophy; Mutation; SLC4A11 gene; Cornea
Online: 17 January 2023 (07:15:45 CET)
COMMUNICATION
|
doi:10.20944/preprints202111.0017.v1
Subject:
Biology And Life Sciences,
Cell And Developmental Biology
Keywords:
matrix metalloproteases; muscular dystrophy; skeletal muscle; cardiac muscle
Online: 1 November 2021 (12:56:58 CET)
ARTICLE
|
doi:10.20944/preprints202001.0326.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
laminin; reactive oxygen species; congenital muscular dystrophy; therapy
Online: 27 January 2020 (09:34:14 CET)
SHORT NOTE
|
doi:10.20944/preprints202407.1124.v1
Subject:
Medicine And Pharmacology,
Other
Keywords:
DIPA-CRISPR; Cockroach; insects; gene editing; Duchenne Muscular Dystrophy
Online: 15 July 2024 (04:53:50 CEST)
ARTICLE
|
doi:10.20944/preprints202406.0333.v1
Subject:
Medicine And Pharmacology,
Pediatrics, Perinatology And Child Health
Keywords:
Duchenne muscular dystrophy; sniff nasal inspiratory pressure; supine spirometry; diaphragm
Online: 6 June 2024 (07:44:26 CEST)
REVIEW
|
doi:10.20944/preprints202403.0880.v1
Subject:
Biology And Life Sciences,
Biology And Biotechnology
Keywords:
Chromosome Transplantation; Genomic Disease; X Chromosome; Duchenne Muscular Dystrophy; iPSC
Online: 15 March 2024 (10:10:00 CET)
REVIEW
|
doi:10.20944/preprints202401.0263.v1
Subject:
Medicine And Pharmacology,
Cardiac And Cardiovascular Systems
Keywords:
Myotonic Dystrophy; Cardiovascular Disease; Neurological Disease; Sudden Cardiac Death; Arrythmogenic risk.
Online: 3 January 2024 (12:58:33 CET)
REVIEW
|
doi:10.20944/preprints202201.0265.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
CRISPR; gene editing; Duchenne muscular dystrophy (DMD); exon skipping; NHEJ; dystrophin
Online: 18 January 2022 (17:30:37 CET)
CASE REPORT
|
doi:10.20944/preprints202406.1988.v1
Subject:
Medicine And Pharmacology,
Pediatrics, Perinatology And Child Health
Keywords:
Neurodegenerative disorder; Infantile Neuroaxonal Dystrophy; developmental regression; global developmental delay; genetic counseling
Online: 28 June 2024 (02:44:48 CEST)
ARTICLE
|
doi:10.20944/preprints202406.0581.v1
Subject:
Biology And Life Sciences,
Life Sciences
Keywords:
Consanguinity; gene panel; Inherited retinal diseases; retinal dystrophy; targeted next generation sequencing
Online: 11 June 2024 (15:01:06 CEST)
REVIEW
|
doi:10.20944/preprints202402.1754.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Sda antigen; B4GALNT2; uromodulin; Tamm- Horsfall glycoproteins; influenza virus; Duchene muscular dystrophy.
Online: 29 February 2024 (17:01:39 CET)
REVIEW
|
doi:10.20944/preprints202010.0234.v1
Subject:
Medicine And Pharmacology,
Clinical Medicine
Keywords:
myostatin inhibition; Duchenne Muscular Dystrophy; skeletal muscle; muscle development; clinical trials; translation
Online: 12 October 2020 (12:07:43 CEST)
REVIEW
|
doi:10.20944/preprints202003.0048.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Duchenne muscular dystrophy; CRISPR; animal models; in vivo testing; dystrophin; mutant generation
Online: 4 March 2020 (04:58:48 CET)
REVIEW
|
doi:10.20944/preprints201906.0032.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
nucleic acids analogs, antisense, CRISPR, antibiotic resistance, myotonic dystrophy, cholesterol, hematologic malignancy,
Online: 5 June 2019 (08:11:12 CEST)
CASE REPORT
|
doi:10.20944/preprints202404.0620.v1
Subject:
Biology And Life Sciences,
Other
Keywords:
Duchenne muscular dystrophy; Balance; Gower’ s sign; Rehabilitation; Physiotherapy; Dynamic neuromuscular stabilization
Online: 9 April 2024 (08:53:39 CEST)
ARTICLE
|
doi:10.20944/preprints202309.0417.v1
Subject:
Medicine And Pharmacology,
Pharmacology And Toxicology
Keywords:
adenylosuccinic acid; Duchenne muscular dystrophy; myopathy; metabolic disease; skeletal muscle; toxicology; drug development
Online: 7 September 2023 (05:09:43 CEST)
ARTICLE
|
doi:10.20944/preprints202305.1059.v1
Subject:
Biology And Life Sciences,
Cell And Developmental Biology
Keywords:
corneal enendothelial dystrophy; Slc4a11; barrier function; lactate transporters; Src kinase; oxidative stress; Visomitin
Online: 15 May 2023 (15:50:03 CEST)
ARTICLE
|
doi:10.20944/preprints202309.1877.v1
Subject:
Medicine And Pharmacology,
Ophthalmology
Keywords:
rod-cone dystrophy; retinitis pigmentosa; RP1 gene; founder effect; inherited retinal dystrophies; founder mutation
Online: 27 September 2023 (11:06:58 CEST)
REVIEW
|
doi:10.20944/preprints202306.2170.v1
Subject:
Medicine And Pharmacology,
Neuroscience And Neurology
Keywords:
N-acetylcysteine; amino acid supplements; L-arginine; Duchenne muscular dystrophy; mdx mouse; osmolytes; supportive therapy; taurine
Online: 30 June 2023 (07:13:00 CEST)
REVIEW
|
doi:10.20944/preprints202407.1712.v1
Subject:
Medicine And Pharmacology,
Neuroscience And Neurology
Keywords:
facioscapulohumeral muscular dystrophy (FSHD); DUX4; antisense oligonucleotides; RNAi; CRISPR; DNA aptamers; DNA decoys; targeted therapy; genetic therapy
Online: 22 July 2024 (11:53:34 CEST)
REVIEW
|
doi:10.20944/preprints202405.1955.v1
Subject:
Medicine And Pharmacology,
Medicine And Pharmacology
Keywords:
Antisense oligonucleotide; N-of-1; milasen; atipeksen; valeriasen; rare disease; exon skipping; splice switching; personalized medicine; muscular dystrophy
Online: 29 May 2024 (12:08:10 CEST)
REVIEW
|
doi:10.20944/preprints202405.1167.v1
Subject:
Medicine And Pharmacology,
Ophthalmology
Keywords:
Descemet Membrane Endothelial Keratoplasty (DMEK); biofabrication; tissue engineering; corneal endothelium; regenerative medicine; Fuchs Endothelial Corneal Dystrophy; corneal endothelial cells; Descemet's membrane
Online: 17 May 2024 (15:29:49 CEST)
REVIEW
|
doi:10.20944/preprints202311.0801.v1
Subject:
Medicine And Pharmacology,
Neuroscience And Neurology
Keywords:
Dysferlinopathy; limb-girdle muscular dystrophy recessive type 2 (LGMDR2); Miyoshi myopathy; distal myopathy with anterior tibial onset (DMAT); dysferlin; membrane resealing; genetic therapy; mini-dysferlin; exon skipping
Online: 13 November 2023 (10:41:28 CET)
REVIEW
|
doi:10.20944/preprints202009.0399.v1
Subject:
Biology And Life Sciences,
Biology And Biotechnology
Keywords:
inositide; phosphoinositide; 5-phosphatase; INPP5K; SKIP; phosphatidylinositol 3,4,5-trisphosphate; phosphatidylinositol 4,5-bisphosphate; congenital muscular dystrophy; cataract; intellectual disability; insulin signaling; insulin resistance; endoplasmic reticulum; endoplasmic reticulum stress; unfolded protein response
Online: 17 September 2020 (11:19:10 CEST)
REVIEW
|
doi:10.20944/preprints201912.0385.v1
Subject:
Medicine And Pharmacology,
Cardiac And Cardiovascular Systems
Keywords:
dilated cardiomyopathy (DCM); hypertrophic cardiomyopathy (HCM); restrictive cardiomyopathy (RCM); arrhythmogenic right ventricular cardiomyopathy (ARVC); left ventricular non-compaction cardiomyopathy (LVNC); Duchenne muscular dystrophy; dystrophin; genome editing; CRISPR/Cas9; Cpf1 (Cas12a)
Online: 29 December 2019 (13:41:48 CET)
REVIEW
|
doi:10.20944/preprints201811.0018.v1
Subject:
Biology And Life Sciences,
Biochemistry And Molecular Biology
Keywords:
Duchenne muscular dystrophy (DMD); CRISPR/Cas9; exon skipping therapy; gene editing; human induced pluripotent stem cells (hiPSCs); immortalized patient muscle cells; mdx mice; humanized dystrophic mouse models; deltaE50-MD dog model
Online: 2 November 2018 (05:14:23 CET)