PubRank

R E Bittner

Author PubWeight™ 23.58‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse. Nat Genet 2001 2.52
2 Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B. Nat Genet 1999 1.93
3 MAP1B is required for axon guidance and Is involved in the development of the central and peripheral nervous system. J Cell Biol 2000 1.44
4 Glomerular expression of dystroglycans is reduced in minimal change nephrosis but not in focal segmental glomerulosclerosis. J Am Soc Nephrol 2000 1.37
5 Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. Neurology 2005 1.28
6 Association of mitochondria with plectin and desmin intermediate filaments in striated muscle. Exp Cell Res 1999 1.24
7 Direct visualization of the dystrophin network on skeletal muscle fiber membrane. J Cell Biol 1992 1.22
8 Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome. Neuropediatrics 2008 1.15
9 Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation. Neuroreport 2001 1.13
10 Left ventricular non-compaction in a patient with becker's muscular dystrophy. Heart 1996 0.97
11 Histomorphometric studies in patients with facial palsy treated by functional muscle transplantation: new aspects for the surgical concept. Ann Plast Surg 1991 0.90
12 Isolated cytochrome c oxidase deficiency as a cause of MELAS. J Med Genet 2008 0.89
13 CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene. Neurology 2001 0.83
14 [In vitro transformation of amniotic cells to muscle cells--background and outlook]. Wien Med Wochenschr 1996 0.80
15 Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism syndrome. Pediatr Neurol 1997 0.80
16 Effects of oral creatine supplementation in a patient with MELAS phenotype and associated nephropathy. Neuropediatrics 2002 0.78
17 Angina for 14 years. Lancet 1997 0.77
18 Classification of malignant hyperthermia-equivocal patients by 4-chloro-M-cresol. Anesth Analg 1997 0.77
19 Dystrophin deficient mdx muscle is not prone to MH susceptibility: an in vitro study. Br J Anaesth 1997 0.76
20 Lactate stress test in the diagnosis of mitochondrial myopathy. J Neurol Sci 1998 0.76
21 Serum antibodies to the deleted dystrophin sequence after cardiac transplantation in a patient with Becker's muscular dystrophy. N Engl J Med 1995 0.76
22 Cardiac involvement in Becker's muscular dystrophy, necessitating heart transplantation, 6 years before apparent skeletal muscle involvement. Neuromuscul Disord 1999 0.76
23 Axonal polyneuropathy in Ehlers-Danlos syndrome. Muscle Nerve 1998 0.76
24 [Lactate determination at rest and during bicycle ergometry in healthy probands and in patients with mitochondrial myopathies]. Wien Med Wochenschr 1996 0.75
25 Cerebrospinal fluid filtration and immunoglobulins in multifocal motor neuropathy. Clin Neuropathol 1999 0.75
26 [Congenital adrenal gland insufficiency and myopathy]. Wien Klin Wochenschr 1995 0.75