A Urtizberea

Author PubWeight™ 11.45^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.	Ann Neurol	2000	1.84
2	Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids. 2-4 April 2004, Naarden, The Netherlands.	Neuromuscul Disord	2004	1.31
3	Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance?	Am J Med Genet	2000	1.28
4	Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature.	Am J Med Genet A	2004	1.08
5	Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.	Neurology	2005	0.97
6	Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.	Neurology	2000	0.95
7	Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India.	Eur J Med Genet	2008	0.89
8	New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family.	Am J Med Genet	2001	0.87
9	Self-assembled trityl radical capsules--implications for dynamic nuclear polarization.	Phys Chem Chem Phys	2015	0.85
10	66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands.	Neuromuscul Disord	1999	0.85
11	[Pathological anatomy of the heart in myopathies and infantile muscular atrophies].	Ann Med Interne (Paris)	1991	0.77
12	Synthesis and magnetic behavior of ultra-small bimetallic FeCo/graphite nanoparticles.	Nanotechnology	2013	0.75
13	Note: a sample holder design for sensitive magnetic measurements at high temperatures in a magnetic properties measurement system.	Rev Sci Instrum	2012	0.75
14	Clinical aspects of neuromuscular diseases.	Pediatr Pulmonol Suppl	1997	0.75