Back to Search
CAROLINA DI BLASI, M.D
M.D
Pediatric Endocrinology Physician
NPI: 1306050091Individual
Specialties, Licenses & Credentials
Pediatric Endocrinology PhysicianPrimary
Pediatrics — Pediatric Endocrinology
Code: 2080P0205X
60036923(WA)
Research & Publications (12)
LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression.
PMID 18406646·Eur J Paediatr Neurol·2009
5-case
Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression.
PMID 18990578·Neuromuscul Disord·2008
5-case
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.
PMID 17994539·Hum Mutat·2008
8-other
Severe congenital muscular dystrophy in a LAMA2-mutated case.
PMID 17765811·Pediatr Neurol·2007
5-case
LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.
PMID 16216942·Arch Neurol·2005
8-other
Decorin and biglycan expression is differentially altered in several muscular dystrophies.
PMID 16183658·Brain·2005
8-other
Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy.
PMID 15236412·Ann Neurol·2004
8-other
Development of a novel reactor for the oxidative degradation of straw.
PMID 14607486·Bioresour Technol·2004
8-other
Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping.
PMID 11287370·Brain·2001
5-case
Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy.
PMID 11053683·Neuromuscul Disord·2000
5-case
Partial laminin alpha2 chain deficiency in a patient with myopathy resembling inclusion body myositis.
PMID 10852549·Ann Neurol·2000
5-case
Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations.
PMID 10662809·J Med Genet·2000
5-case
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 4800 SAND POINT WAY NE
SEATTLE, WA 09105 - Phone
- (206) 987-5017
Quick Facts
- NPI
- 1306050091
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 12
Are you this provider?
Claim Your Profile