scholarly article | Q13442814 |
P356 | DOI | 10.1177/0883073812474951 |
P8608 | Fatcat ID | release_vfr7radlz5gfdiayyjlls6ky4a |
P698 | PubMed publication ID | 23420653 |
P50 | author | Filippo Maria Santorelli | Q60541206 |
Paolo Ghirri | Q117805294 | ||
P2093 | author name string | Roberta Battini | |
Laura Bartalena | |||
Chiara Fiorillo | |||
Guja Astrea | |||
Jacopo Baldacci | |||
Matteo Giampietri | |||
Rosanna Trovato | |||
P2860 | cites work | Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome | Q24561808 |
Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients | Q28216707 | ||
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study | Q28238656 | ||
Congenital muscular dystrophies: a brief review | Q28255519 | ||
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations | Q28297242 | ||
Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency | Q36333503 | ||
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families | Q36462720 | ||
Dystroglycanopathies: coming into focus | Q37852376 | ||
The ever-expanding spectrum of congenital muscular dystrophies | Q38029277 | ||
Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations | Q39126345 | ||
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. | Q41939145 | ||
Dystroglycan and dystroglycanopathies: report of the 187th ENMC Workshop 11-13 November 2011, Naarden, The Netherlands | Q42127428 | ||
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies | Q42524150 | ||
Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency | Q48595029 | ||
Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker-Warburg syndrome | Q48740947 | ||
P433 | issue | 3 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | congenital muscular dystrophy | Q1321884 |
congenital disorder | Q727096 | ||
P304 | page(s) | 394-398 | |
P577 | publication date | 2013-02-17 | |
P1433 | published in | Journal of Child Neurology | Q6294935 |
P1476 | title | Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations | |
P478 | volume | 29 |