LIVIVO - Search results -

Search results

Result 1 - 10 of total 389

Search options

Article ; Online: CRISPR editing as a therapeutic strategy for Duchenne muscular dystrophy-anti-Cas9 immune response casts its shadow over safety and efficacy.

Dowling, James J

2022 Volume 29, Issue 10-11, Page(s) 575–577

MeSH term(s)	Humans ; Muscular Dystrophy, Duchenne/genetics ; Muscular Dystrophy, Duchenne/therapy ; Gene Editing ; CRISPR-Cas Systems/genetics ; Immunity ; Dystrophin/genetics ; Dystrophin/metabolism
Chemical Substances	Dystrophin
Language	English
Publishing date	2022-02-22
Publishing country	England
Document type	Journal Article
ZDB-ID	1191036-7
ISSN	1476-5462 ; 0969-7128
ISSN (online)	1476-5462
ISSN	0969-7128
DOI	10.1038/s41434-022-00323-8
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 3991: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Details ▾

Article ; Online: X-linked myotubular myopathy.

Lawlor, Michael W / Dowling, James J

Neuromuscular disorders : NMD

2021 Volume 31, Issue 10, Page(s) 1004–1012

Abstract: X-linked myotubular myopathy (XLMTM) is a severe congenital muscle disease caused by mutation in the MTM1 gene. MTM1 encodes myotubularin (MTM1), an endosomal phosphatase that acts to dephosphorylate key second messenger lipids PI3P and PI3,5P2. XLMTM is ...

Abstract	X-linked myotubular myopathy (XLMTM) is a severe congenital muscle disease caused by mutation in the MTM1 gene. MTM1 encodes myotubularin (MTM1), an endosomal phosphatase that acts to dephosphorylate key second messenger lipids PI3P and PI3,5P2. XLMTM is clinically characterized by profound muscle weakness and associated with multiple disabilities (including ventilator and wheelchair dependence) and early death in most affected individuals. The disease is classically defined by characteristic changes observed on muscle biopsy, including centrally located nuclei, myofiber hypotrophy, and organelle disorganization. In this review, we highlight the clinical and pathologic features of the disease, present concepts related to disease pathomechanisms, and present recent advances in therapy development.
MeSH term(s)	Female ; Humans ; Male ; Muscle Weakness/pathology ; Muscle, Skeletal/pathology ; Mutation ; Myopathies, Structural, Congenital/diagnosis ; Phenotype ; Protein Tyrosine Phosphatases, Non-Receptor
Chemical Substances	Protein Tyrosine Phosphatases, Non-Receptor (EC 3.1.3.48) ; myotubularin (EC 3.1.3.48)
Language	English
Publishing date	2021-11-04
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1077681-3
ISSN	1873-2364 ; 0960-8966
ISSN (online)	1873-2364
ISSN	0960-8966
DOI	10.1016/j.nmd.2021.08.003
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 3258: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Zebrafish Models of

Fabian, Lacramioara / Dowling, James J

Frontiers in molecular neuroscience

2020 Volume 13, Page(s) 122

Abstract: LAMA2-related congenital muscular dystrophy (CMD; LAMA2-MD), also referred to as merosin deficient CMD (MDC1A), is a severe neonatal onset muscle disease caused by recessive mutations in the LAMA2 gene. LAMA2 encodes laminin α2, a subunit of the ... ...

Abstract	LAMA2-related congenital muscular dystrophy (CMD; LAMA2-MD), also referred to as merosin deficient CMD (MDC1A), is a severe neonatal onset muscle disease caused by recessive mutations in the LAMA2 gene. LAMA2 encodes laminin α2, a subunit of the extracellular matrix (ECM) oligomer laminin 211. There are currently no treatments for MDC1A, and there is an incomplete understanding of disease pathogenesis. Zebrafish, due to their high degree of genetic conservation with humans, large clutch sizes, rapid development, and optical clarity, have emerged as an excellent model system for studying rare Mendelian diseases. They are particularly suitable as a model for muscular dystrophy because they contain at least one orthologue to all major human MD genes, have muscle that is similar to human muscle in structure and function, and manifest obvious and easily measured MD related phenotypes. In this review article, we present the existing zebrafish models of MDC1A, and discuss their contribution to the understanding of MDC1A pathomechanisms and therapy development.
Language	English
Publishing date	2020-07-09
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2452967-9
ISSN	1662-5099
ISSN	1662-5099
DOI	10.3389/fnmol.2020.00122
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Eteplirsen therapy for Duchenne muscular dystrophy: skipping to the front of the line.

Dowling, James J

Nature reviews. Neurology

2016 Volume 12, Issue 12, Page(s) 675–676

MeSH term(s)	Adolescent ; Child ; Clinical Trials as Topic ; Gene Deletion ; Humans ; Male ; Morpholinos/administration & dosage ; Morpholinos/pharmacology ; Muscular Dystrophy, Duchenne/drug therapy ; Oligonucleotides, Antisense
Chemical Substances	Morpholinos ; Oligonucleotides, Antisense ; eteplirsen (AIW6036FAS)
Language	English
Publishing date	2016
Publishing country	England
Document type	Journal Article
ZDB-ID	2491514-2
ISSN	1759-4766 ; 1759-4758
ISSN (online)	1759-4766
ISSN	1759-4758
DOI	10.1038/nrneurol.2016.180
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 6257: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
Zs.MG 88: Show issues

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy.

Fabian, Lacramioara / Karimi, Esmat / Farman, Gerrie P / Gohlke, Jochen / Ottenheijm, Coen A C / Granzier, Hendrikus L / Dowling, James J

Human molecular genetics

2024

Abstract: Nemaline myopathy (NM) is a rare congenital neuromuscular disorder characterized by muscle weakness and hypotonia, slow gross motor development, and decreased respiratory function. Mutations in at least twelve genes, all of each encode proteins that are ... ...

Abstract	Nemaline myopathy (NM) is a rare congenital neuromuscular disorder characterized by muscle weakness and hypotonia, slow gross motor development, and decreased respiratory function. Mutations in at least twelve genes, all of each encode proteins that are either components of the muscle thin filament or regulate its length and stability, have been associated with NM. Mutations in Nebulin (NEB), a giant filamentous protein localized in the sarcomere, account for more than 50% of NM cases. At present, there remains a lack of understanding of whether NEB genotype influences nebulin function and NM-patient phenotypes. In addition, there is a lack of therapeutically tractable models that can enable drug discovery and address the current unmet treatment needs of patients. To begin to address these gaps, here we have characterized five new zebrafish models of NEB-related NM. These mutants recapitulate most aspects of NEB-based NM, showing drastically reduced survival, defective muscle structure, reduced contraction force, shorter thin filaments, presence of electron-dense structures in myofibers, and thickening of the Z-disks. This study represents the first extensive investigation of an allelic series of nebulin mutants, and thus provides an initial examination in pre-clinical models of potential genotype-phenotype correlations in human NEB patients. It also represents the first utilization of a set of comprehensive outcome measures in zebrafish, including correlation between molecular analyses, structural and biophysical investigations, and phenotypic outcomes. Therefore, it provides a rich source of data for future studies exploring the NM pathomechanisms, and an ideal springboard for therapy identification and development for NEB-related NM.
Language	English
Publishing date	2024-03-17
Publishing country	England
Document type	Journal Article
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddae033
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 3469: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Episodic RYR1-Related Crisis: Part of the Evolving Spectrum of RYR1-Related Myopathies and Malignant Hyperthermia-Like Illnesses.

Dowling, James J / Riazi, Sheila / Litman, Ronald S

A&A practice

2021 Volume 15, Issue 1, Page(s) e01377

MeSH term(s)	Hemodynamics ; Humans ; Hyperthermia ; Malignant Hyperthermia/genetics ; Muscular Diseases ; Ryanodine Receptor Calcium Release Channel/genetics
Chemical Substances	Ryanodine Receptor Calcium Release Channel
Language	English
Publishing date	2021-01-19
Publishing country	United States
Document type	Editorial ; Comment
ISSN	2575-3126
ISSN (online)	2575-3126
DOI	10.1213/XAA.0000000000001377
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Molecular and cellular basis of genetically inherited skeletal muscle disorders.

Dowling, James J / Weihl, Conrad C / Spencer, Melissa J

Nature reviews. Molecular cell biology

2021 Volume 22, Issue 11, Page(s) 713–732

Abstract: Neuromuscular disorders comprise a diverse group of human inborn diseases that arise from defects in the structure and/or function of the muscle tissue - encompassing the muscle cells (myofibres) themselves and their extracellular matrix - or muscle ... ...

Abstract	Neuromuscular disorders comprise a diverse group of human inborn diseases that arise from defects in the structure and/or function of the muscle tissue - encompassing the muscle cells (myofibres) themselves and their extracellular matrix - or muscle fibre innervation. Since the identification in 1987 of the first genetic lesion associated with a neuromuscular disorder - mutations in dystrophin as an underlying cause of Duchenne muscular dystrophy - the field has made tremendous progress in understanding the genetic basis of these diseases, with pathogenic variants in more than 500 genes now identified as underlying causes of neuromuscular disorders. The subset of neuromuscular disorders that affect skeletal muscle are referred to as myopathies or muscular dystrophies, and are due to variants in genes encoding muscle proteins. Many of these proteins provide structural stability to the myofibres or function in regulating sarcolemmal integrity, whereas others are involved in protein turnover, intracellular trafficking, calcium handling and electrical excitability - processes that ensure myofibre resistance to stress and their primary activity in muscle contraction. In this Review, we discuss how defects in muscle proteins give rise to muscle dysfunction, and ultimately to disease, with a focus on pathologies that are most common, best understood and that provide the most insight into muscle biology.
MeSH term(s)	Dystrophin/genetics ; Humans ; Muscle Fibers, Skeletal/metabolism ; Muscle Fibers, Skeletal/pathology ; Muscle Proteins/genetics ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Muscular Dystrophy, Duchenne/genetics ; Muscular Dystrophy, Duchenne/pathology ; Mutation/genetics ; Neuromuscular Diseases/genetics ; Neuromuscular Diseases/pathology
Chemical Substances	Dystrophin ; Muscle Proteins
Language	English
Publishing date	2021-07-13
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2031313-5
ISSN	1471-0080 ; 1471-0072
ISSN (online)	1471-0080
ISSN	1471-0072
DOI	10.1038/s41580-021-00389-z
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 5446: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MG 26: Show issues

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Genetic therapy for congenital myopathies.

Maani, Nika / Karolczak, Sophie / Dowling, James J

Current opinion in neurology

2021 Volume 34, Issue 5, Page(s) 727–737

Abstract: Purpose of review: There has been an explosion of advancement in the field of genetic therapies. The first gene-based treatments are now in clinical practice, with several additional therapeutic programs in various stages of development. Novel ... ...

Abstract	Purpose of review: There has been an explosion of advancement in the field of genetic therapies. The first gene-based treatments are now in clinical practice, with several additional therapeutic programs in various stages of development. Novel technologies are being developed that will further advance the breadth and success of genetic medicine.Congenital myopathies are an important group of neuromuscular disorders defined by structural changes in the muscle and characterized by severe clinical symptoms caused by muscle weakness. At present, there are no approved drug therapies for any subtype of congenital myopathy.In this review, we present an overview of genetic therapies and discuss their application to congenital myopathies. Recent findings: Several candidate therapeutics for congenital myopathies are in the development pipeline, including ones in clinical trial. These include genetic medicines such as gene replacement therapy and antisense oligonucleotide-based gene knockdown. We highlight the programs related to genetic medicine, and also discuss congenital myopathy subtypes where genetic therapy could be applied. Summary: Genetic therapies are ushering in an era of precision medicine for neurological diseases. Congenital myopathies are conditions ideally suited for genetic medicine approaches, and the first such therapies will hopefully soon be reaching congenital myopathy patients.
MeSH term(s)	Genetic Therapy ; Humans ; Muscle Weakness ; Myopathies, Structural, Congenital/genetics ; Myopathies, Structural, Congenital/therapy ; Oligonucleotides, Antisense
Chemical Substances	Oligonucleotides, Antisense
Language	English
Publishing date	2021-07-14
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1182686-1
ISSN	1473-6551 ; 1350-7540
ISSN (online)	1473-6551
ISSN	1350-7540
DOI	10.1097/WCO.0000000000000978
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 2524: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Titin and centronuclear myopathy: The tip of the iceberg for TTN-ic mutations?

Dowling, James J

Neurology

2013 Volume 81, Issue 14, Page(s) 1189–1190

MeSH term(s)	Connectin/genetics ; Female ; Humans ; Male ; Myopathies, Structural, Congenital/genetics
Chemical Substances	Connectin ; TTN protein, human
Language	English
Publishing date	2013-10-01
Publishing country	United States
Document type	Comment ; Editorial
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0b013e3182a6cc43
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Ui II Zs.153: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
Zs.MG 18: Show issues
Zs.MO 374: Show issues

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Functional Outcomes of Congenital Scoliosis at a Mean 35-Year Follow-up Post In Situ Fusion. Revisiting Patients From the 2002 Goldberg et al Study.

Kelly, Martin J / Alberghina, Flavia / McCabe, Patrick / Goldberg, Caroline J / Fogarty, Esmond E / Dowling, Frank E / O'Toole, Patrick / Noël, Jacques / Kiely, Patrick J / Moore, David P / Kennedy, James F

Journal of pediatric orthopedics

2024 Volume 44, Issue 5, Page(s) e381–e388

Abstract: Background: The management of congenital scoliosis poses a significant challenge for treating surgeons. The aim of our study was to provide insight into the long-term clinical results of spinal fusion in congenital scoliosis.: Methods: We performed a ...

Abstract	Background: The management of congenital scoliosis poses a significant challenge for treating surgeons. The aim of our study was to provide insight into the long-term clinical results of spinal fusion in congenital scoliosis. Methods: We performed a retrospective review of the scoliosis database in our institution for the period 1976 until 2002 identifying 43 patients with congenital scoliosis who underwent spinal fusion. Patient demographics, diagnosis, levels fused, and radiographs were evaluated. Patients were evaluated for unplanned return to the operating room (UPROR) via SRS 22, EQ5D-5L, and Oswestry Disability Index (ODI). Results: Of the 43 patients who fulfilled the inclusion criteria, 22 patients agreed to participate, 3 patients were known to be deceased and 18 patients were lost to follow-up or declined to participate and were excluded. The mean age of the respondents was 40.7 years (range, 30 to 47 y) with a mean follow-up from index surgery of 35 years (range, 20 to 44 y). At most recent follow-up, 12 patients (54%) underwent UPROR. The mean age at diagnosis was 3.4 years (range, birth to 11.5 y), and the mean age for first surgery was 5.8 years (range, 1 to 13 y). As regards radiologic follow-up; the mean number of levels fused was 5.2 (range, 2 to 12). Thoracic fusion was performed in 17 patients (77%). The mean T1 to T12 height at index surgery and maturity was 166 mm (range, 130 to 240 mm) and 202 mm (range, 125 to 270 mm), respectively. The mean functional scores at follow-up were SRS 22: 4.5 (range, 2.4 to 5), cumulative EQ5D-5L score 7.2 (range, 5 to 15), and ODI: 8% (range, 2 to 30%). All respondents completed high school, 10 patients (45%) completed university, and 2 patients were awarded doctorates. Currently, 17 patients (77%) are in paid employment. Conclusions: This report constitutes the largest series of patients treated by spinal arthrodesis for congenital scoliosis followed into maturity. We demonstrate the thorax continues to grow after index fusion, patient-reported outcomes were satisfactory with superior educational and employment rates and unplanned return to theatre is rare in adult life. Level of evidence: Therapeutic Level IV.
MeSH term(s)	Adult ; Humans ; Middle Aged ; Child ; Infant ; Child, Preschool ; Adolescent ; Scoliosis/diagnostic imaging ; Scoliosis/surgery ; Follow-Up Studies ; Treatment Outcome ; Retrospective Studies ; Spinal Fusion/methods
Language	English
Publishing date	2024-03-05
Publishing country	United States
Document type	Journal Article
ZDB-ID	604642-3
ISSN	1539-2570 ; 0271-6798
ISSN (online)	1539-2570
ISSN	0271-6798
DOI	10.1097/BPO.0000000000002649
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 1681: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

To top

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito