Published in Am J Med Genet on January 02, 1995
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The spectrum of Notch3 mutations in 28 Italian CADASIL families. J Neurol Neurosurg Psychiatry (2005) 1.19
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. Hum Mutat (2006) 1.18
Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7. Hum Mol Genet (1993) 1.17
A 3' consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions. Hum Mol Genet (1992) 1.17
The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/- myopathic mice. Br J Pharmacol (2009) 1.16
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. J Med Genet (2003) 1.13
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Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy. J Med Genet (2005) 1.12
Habitual, toxic, and lethal concentrations of 103 drugs of abuse in humans. J Toxicol Clin Toxicol (1997) 1.11
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). J Med Genet (1997) 1.11
Therapeutic, toxic, and lethal concentrations in human fluids of 90 drugs affecting the cardiovascular and hematopoietic systems. J Toxicol Clin Toxicol (1997) 1.10
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. Am J Hum Genet (1997) 1.10
A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India. Hum Mol Genet (1996) 1.10
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Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy. Hum Mol Genet (1997) 1.09
A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy. Biochem Biophys Res Commun (1999) 1.09
Naturally occurring perylenequinones. Fortschr Chem Org Naturst (1987) 1.09
Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes. Genomics (2000) 1.08
Dystrophin restoration in skeletal, heart and skin arrector pili smooth muscle of mdx mice by ZM2 NP-AON complexes. Gene Ther (2009) 1.08
Phenotypic clustering of lamin A/C mutations in neuromuscular patients. Neurology (2007) 1.07
An innovative hand brace for carpal tunnel syndrome: a randomized controlled trial. Muscle Nerve (2001) 1.06
A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy. Am J Hum Genet (1998) 1.06
Functional MRI study of diencephalic amnesia in Wernicke-Korsakoff syndrome. Brain (2005) 1.05
The genetic and biochemical basis of Omenn syndrome. Immunol Rev (2000) 1.04
The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates. Brain (1998) 1.03
Accuracy of clinical diagnostic criteria for Friedreich's ataxia. Mov Disord (2000) 1.02
Brainstem neurodegeneration correlates with clinical dysfunction in SCA1 but not in SCA2. A quantitative volumetric, diffusion and proton spectroscopy MR study. Brain (2004) 1.02
The prevention of neural complications in the surgical treatment of scoliosis: the role of the neurophysiological intraoperative monitoring. Eur Spine J (2011) 1.01
Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy. Muscle Nerve (2003) 1.00
Evaluation of total reactive antioxidant potential (TRAP) of tissue homogenates and their cytosols. Arch Biochem Biophys (2001) 1.00
Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy. Muscle Nerve (1999) 1.00
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen. Neuromuscul Disord (1999) 0.99
Slowly progressive familial dementia with recurrent strokes and white matter hypodensities on CT scan. Ital J Neurol Sci (1992) 0.99
Dome formation in cell cultures as expression of an early stage of lactogenic differentiation of the mammary gland. Proc Natl Acad Sci U S A (2002) 0.98
The incidence of narcotic-induced emesis. J Pain Symptom Manage (1991) 0.97
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. Neurology (2005) 0.97
A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene. Neuromuscul Disord (1998) 0.97
Assessment of the role of genetic polymorphism in venous thrombosis through artificial neural networks. Ann Hum Genet (2005) 0.96
Failure to confirm report of light-evoked response of peripheral nerve to low power helium-neon laser light stimulus. Brain Res (1987) 0.96
Potent antitumor activity and improved pharmacological profile of ST1481, a novel 7-substituted camptothecin. Cancer Res (2001) 0.95
Primary immunodeficiency mutation databases. Adv Genet (2001) 0.95
The effects of prolonged cathodal direct current stimulation on the excitatory and inhibitory circuits of the ipsilateral and contralateral motor cortex. J Neural Transm (Vienna) (2012) 0.95
The rat gene homologous to the human gene 9-27 is involved in the development of the mammary gland. Proc Natl Acad Sci U S A (1998) 0.95
GNE protein expression and subcellular distribution are unaltered in HIBM. Neurology (2007) 0.94
Influence of the cosmetic treatment of hair on drug testing. Int J Legal Med (1997) 0.94
Efficacy of a soft hand brace and a wrist splint for carpal tunnel syndrome: a randomized controlled study. Acta Neurol Scand (2008) 0.94
A comparative study of two methods for the orientation of the occlusal plane and the determination of the vertical dimension of occlusion in edentulous patients. J Oral Rehabil (1992) 0.94
Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations. Ann Neurol (2002) 0.94
A linkage study of Emery-Dreifuss muscular dystrophy. Hum Genet (1986) 0.94
Haemostatic abnormalities, cardiac involvement and serum tumor necrosis factor levels in X-linked dystrophic patients. Thromb Haemost (1999) 0.94
Identification and genomic organization of a gene coding for a new member of the cell adhesion molecule family mapping to Xq25. Gene (1998) 0.93
Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy. Muscle Nerve (2001) 0.93
Autoinduction of rifabutin metabolism in man. Xenobiotica (1990) 0.93
Long-term cryostorage does not adversely affect the outcome of oocyte thawing cycles. Reprod Biomed Online (2009) 0.93
Electrophysiologic correlates of peripheral nervous system maturation in infancy and childhood. J Child Neurol (1993) 0.93
Cerebral metastases secondary to ovarian cancer: still an unusual event. Gynecol Oncol (1993) 0.93
Terminal deoxynucleotidyl transferase in human lymphomas: possible existence of forms with high and low molecular weights. Br J Cancer (1981) 0.93
Novel 7-oxyiminomethyl derivatives of camptothecin with potent in vitro and in vivo antitumor activity. J Med Chem (2001) 0.92
A test battery for the ecotoxicological evaluation of pentachlorophenol. Toxicol In Vitro (2001) 0.92
Consistence and discrepancy of neuropathic pain screening tools DN4 and ID-Pain. Neurol Sci (2012) 0.92
Spinal muscular atrophy: natural history and orthopaedic treatment of scoliosis. Spine (Phila Pa 1976) (1989) 0.91