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XAVIER FERRER, MD
MD
Student in an Organized Health Care Education/Training Program
NPI: 1639819170Individual
Specialties, Licenses & Credentials
Student in an Organized Health Care Education/Training ProgramPrimary
Student in an Organized Health Care Education/Training Program
Code: 390200000X
Research & Publications (20)
Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia.
PMID 19364651·Neuromuscul Disord·2009
8-other
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.
PMID 18563459·Neurogenetics·2008
8-other
Severe neonatal myasthenia due to maternal anti-MuSK antibodies.
PMID 18434154·Neuromuscul Disord·2008
5-case
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
PMID 16865695·Hum Mutat·2006
5-case
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
PMID 16534102·Neurology·2006
8-other
CAPN3 mutations in patients with idiopathic eosinophilic myositis.
PMID 16607617·Ann Neurol·2006
8-other
Charcot-Marie-Tooth disease type 1A: clinicopathological correlations in 24 patients.
PMID 15703022·J Peripher Nerv Syst·2005
8-other
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
PMID 15689361·Brain·2005
4-observational
Peripheral nerve lesions associated with a dominant missense mutation, E33D, of the lamin A/C gene.
PMID 16084085·Neuromuscul Disord·2005
5-case
[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations].
PMID 15678000·Rev Neurol (Paris)·2005
5-case
A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.
PMID 14985400·J Med Genet·2004
8-other
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
PMID 15372542·Muscle Nerve·2004
8-other
European Atlantic: the hottest oil spill hotspot worldwide.
PMID 15490095·Naturwissenschaften·2004
8-other
Amyloid neuropathy: a retrospective study of 35 peripheral nerve biopsies.
PMID 15574136·J Peripher Nerv Syst·2004
8-other
Peripheral nerve biopsy study in 19 cases with 17p11.2 deletion.
PMID 15581184·J Neuropathol Exp Neurol·2004
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 130 FORT WASHINGTON AVE APT 1D
NEW YORK, NY 10032 - Phone
- (402) 312-4046
Quick Facts
- NPI
- 1639819170
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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