scholarly article | Q13442814 |
P50 | author | Michel Fardeau | Q62559781 |
Johann Bohm | Q43078126 | ||
Ting Xie | Q56811501 | ||
P2093 | author name string | Bin Wu | |
Fengping Xu | |||
Jocelyn Laporte | |||
Norma B Romero | |||
Nicole Monnier | |||
Edoardo Malfatti | |||
Stéphane Mathis | |||
Jean-Philippe Neau | |||
Ursula Schaeffer | |||
Samy Boucebci | |||
P2860 | cites work | Whole body muscle MRI protocol: Pattern recognition in early onset NM disorders | Q63531156 |
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies | Q33918958 | ||
An integrated diagnosis strategy for congenital myopathies. | Q34797333 | ||
Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy | Q36275311 | ||
Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus. | Q36427111 | ||
Myosinopathies: pathology and mechanisms | Q38037315 | ||
MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy | Q43858895 | ||
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation | Q46166215 | ||
Scoliosis surgery in a patient with "de novo" myosin storage myopathy. | Q53216037 | ||
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy | Q55670479 | ||
New phenotype and pathology features in MYH7-related distal myopathy | Q57184187 | ||
Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement | Q61794256 | ||
P433 | issue | 10 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | heterozygosity | Q124059385 |
P1104 | number of pages | 4 | |
P304 | page(s) | 1149-1152 | |
P577 | publication date | 2014-05-14 | |
P1433 | published in | Journal of Neurology, Neurosurgery and Psychiatry | Q1599804 |
P1476 | title | Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene | |
P478 | volume | 85 |
Q60920262 | 'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies |
Q35966996 | Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report |
Q50888603 | Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort. |
Q38395355 | The neuromuscular differential diagnosis of joint hypermobility |
Q38471353 | The sarcomeric M-region: a molecular command center for diverse cellular processes |
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