(Q36322704)

13 August 2017

AMC: amyoplasia and distal arthrogryposis (English)

1 reference

13 August 2017

Eva Kimber

1

1 reference

PMC publication ID

4661149

13 August 2017

language of work or name

1 reference

4 November 2015

1 reference

Journal of Children's Orthopaedics

13 August 2017

1 reference

13 August 2017

9

1 reference

13 August 2017

6

1 reference

13 August 2017

427-432

1 reference

Creative Commons Attribution 4.0 International

13 August 2017

start time

1 December 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1007/s11832-015-0689-1

0 references

cites work

Sheldon-Hall syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Unusual clinical features in infantile Spinal Muscular Atrophies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Arthrogryposis multiplex congenita (amyoplasia): an orthopaedic perspective

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Clinical characteristics and natural history of Freeman-Sheldon syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

When contractile proteins go bad: the sarcomere and skeletal muscle disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

The distal arthrogryposes: a new classification of peripheral contractures.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Arthrogryposis and amyoplasia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Nemaline myopathy: a clinical study of 143 cases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

A revised and extended classification of the distal arthrogryposes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Amyoplasia, the most common type of arthrogryposis: the potential for good outcome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Arthrogryposis. Pediatric review and habilitative aspects

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

The etiology of arthrogryposis (multiple congenital contracture).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Amyoplasia (a common form of arthrogryposis).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Neuropathic arthrogryposis multiplex congenita and intrauterine ischemia of anterior horn cells: a hypothesis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Chromosomal abnormalities associated with congenital contractures (arthrogryposis).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Hypomyelination neuropathy in a female newborn presenting as arthrogryposis multiplex congenita.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Arthrogryposis multiplex congenita: spectrum of pathologic changes

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Further evidence that arthrogryposis multiplex congenita in the human sometimes is caused by an intrauterine vascular accident

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Myotonic dystrophy: muscle involvement in relation to disease type and size of expanded CTG-repeat sequence

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

A new form of congenital proprioceptive sensory neuropathy associated with arthrogryposis multiplex.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Multiple congenital contractures.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Association of amyoplasia with gastroschisis, bowel atresia, and defects of the muscular layer of the trunk

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4661149

Muscle involvement and motor function in amyoplasia

21 October 2018

1 reference

12 December 2020

Multiple congenital contractures: birth prevalence, etiology, and outcome

1 reference

12 December 2020

Arthrogryposis multiplex congenita due to congenital myasthenic syndrome

1 reference

12 December 2020

Distal arthrogryposis: clinical and genetic findings

1 reference

12 December 2020

A distinct congenital motor and sensory neuropathy (neuronal type) with dysmorphic features in a father and two sons. A variant of Charcot-Marie-Tooth disease

1 reference

12 December 2020

Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen

1 reference

12 December 2020

Passive motion therapy for infants with arthrogryposis

1 reference

12 December 2020

Arthrogryposis multiplex congenita

1 reference

12 December 2020

A new distal arthrogryposis syndrome characterized by plantar flexion contractures

1 reference

12 December 2020

Neuropathologic findings in the spinal cords of 10 infants with arthrogryposis

1 reference

12 December 2020

Amyoplasia congenita and intestinal atresia: a common etiology

1 reference

12 December 2020

Ehlers-Danlos syndrome with soft-tissue contractures

1 reference

12 December 2020

Congenital myopathies

1 reference

12 December 2020

10.1007/S11832-015-0689-1

Identifiers

DOI

1 reference

13 August 2017

1 reference

PMC publication ID

4661149

13 August 2017

PubMed publication ID

26537820

1 reference

PMC publication ID

4661149