Publications
250 results found
Oliveira SA, Scott WK, Nance MA, et al., 2003, Association study of Parkin gene polymorphisms with idiopathic Parkinson disease, ARCHIVES OF NEUROLOGY, Vol: 60, Pages: 975-980, ISSN: 0003-9942
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- Citations: 43
Mooser V, Waterworth DM, Isenhour T, et al., 2003, Cardiovascular pharmacogenetics in the SNP era, JOURNAL OF THROMBOSIS AND HAEMOSTASIS, Vol: 1, Pages: 1398-1402, ISSN: 1538-7933
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- Citations: 23
Antonellis A, Ellsworth RE, Sambuughin N, et al., 2003, Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V, AMERICAN JOURNAL OF HUMAN GENETICS, Vol: 72, Pages: 1293-1299, ISSN: 0002-9297
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- Citations: 426
Oliveira SA, Scott WK, Martin ER, et al., 2003, Parkin mutations and susceptibility alleles in late-onset Parkinson's disease, ANNALS OF NEUROLOGY, Vol: 53, Pages: 624-629, ISSN: 0364-5134
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- Citations: 156
van der Walt JM, Martin ER, Scott WK, et al., 2003, Genetic polymorphisms of the <i>N</i>-acetyltransferase genes and risk of Parkinson's disease, NEUROLOGY, Vol: 60, Pages: 1189-1191, ISSN: 0028-3878
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- Citations: 14
van der Walt JM, Nicodemus KK, Martin ER, et al., 2003, Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease, AMERICAN JOURNAL OF HUMAN GENETICS, Vol: 72, Pages: 804-811, ISSN: 0002-9297
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- Citations: 436
Zamba-Papanicolaou E, Christodoulou K, Christodoulou C, et al., 2002, Hereditary motor neuronopathies, Pages: 1220-1224, ISSN: 0035-3787
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- Citations: 2
Zamba-Papanicolaou E, Christodoulou K, Christodoulou C, et al., 2002, Hereditary motor neuronopathies., Rev Neurol (Paris), Vol: 158, Pages: 1220-1224, ISSN: 0035-3787
Zamba-Papanicolaou E, Christoloudou K, Christoloudou C, et al., 2002, Hereditary motor Neuronopathies, 6th Meeting on Diseases of the Peripheral Nervous System, Publisher: MASSON EDITEUR, Pages: 1220-1224, ISSN: 0035-3787
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- Citations: 1
Hauser ER, Crossman DC, Granger C, et al., 2002, Results of a genome-wide scan in 438 families with early-onset coronary artery disease, American-Heart-Association Abstracts From Scientific Sessions, Publisher: LIPPINCOTT WILLIAMS & WILKINS, Pages: 745-745, ISSN: 0009-7322
Georgiou DM, Zidar J, Korosec M, et al., 2002, A novel <i>NF-L</i> mutation <i>Pro22Ser</i> is associated with CMT2 in a large Slovenian family, NEUROGENETICS, Vol: 4, Pages: 93-96, ISSN: 1364-6745
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- Citations: 77
Hauser ER, Crossman DC, Granger C, et al., 2002, A genome-wide scan in 433 families with early-onset coronary artery disease., 52nd Annual Meeting of the American-Society-of-Human-Genetics, Publisher: UNIV CHICAGO PRESS, Pages: 459-459, ISSN: 0002-9297
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- Citations: 2
Li YJ, Scott WK, Hedges DJ, et al., 2002, Age at onset in two common neurodegenerative diseases is genetically controlled, AMERICAN JOURNAL OF HUMAN GENETICS, Vol: 70, Pages: 985-993, ISSN: 0002-9297
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- Citations: 241
Martin ER, Scott WK, Nance MA, et al., 2001, Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease, JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, Vol: 286, Pages: 2245-2250, ISSN: 0098-7484
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- Citations: 150
Scott WK, Nance MA, Watts RL, et al., 2001, Complete genomic screen in parkinson disease - Evidence for multiple genes, JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, Vol: 286, Pages: 2239-2244, ISSN: 0098-7484
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- Citations: 223
Scott WK, Stajich JM, Scott BL, et al., 2001, Complete genomic screen in idiopathic Parkinson disease., AMERICAN JOURNAL OF HUMAN GENETICS, Vol: 69, Pages: 513-513, ISSN: 0002-9297
Oliveira SA, Martin ER, Scott WK, et al., 2001, Association of tau with late-onset Parkinson disease., AMERICAN JOURNAL OF HUMAN GENETICS, Vol: 69, Pages: 511-511, ISSN: 0002-9297
Christodoulou K, Deymeer F, Serdaroglu P, et al., 2001, Mapping of the second Friedreich's ataxia (<i>FRDA2</i>) locus to chromosome 9p23-p11:: evidence for further locus heterogeneity, NEUROGENETICS, Vol: 3, Pages: 127-132, ISSN: 1364-6745
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- Citations: 19
Zamba E, Christodoulou K, Al-Qudah AK, et al., 2001, Autosomal recessive distal hereditary motor neuropathies, Pages: 53-56, ISSN: 1128-2460
Hereditary motor neuronopathies form a group of heterogeneous disorders, the cardinal symptom of which is loss of motor function due to muscle weakness and atrophy. The initial distribution of weakness depends on type of hereditary motor neuronopathies and may be predominantly distal or proximal in the upper and/or lower limbs or bulbar. The mode of inheritance is either autosomal dominant, autosomal recessive or rarely X-linked. In 1993 Harding classified hereditary motor neuronopathies according to clinical picture, age of onset and type of inheritance. The distal form of hereditary motor neuronopathies is one subgroup with four autosomal dominant forms and three autosomal recessive forms (I-VII). The three autosomal recessive forms are: a. type III, a mild juvenile disorder with a relatively benign course; b. type IV, a severe juvenile disorder causing disability early in life; and c. type VI, a severe infantile disorder with an age of onset in infancy, a rapid progression of the disease and early death. Recently we have, identified a novel form of autosomal recessive distal hereditary motor neuronopathies (HMN-J) in a cluster of 27 patients originating from the Jerash region of Jordan. The clinical picture of patients is: age of onset 6-10 years, with distal weakness and wasting in legs, and within 2 years, involvement of the distal upper limb muscles. At the early stages of disease pyramidal features are present. The clinical picture of patients and laboratory findings - including neurophysiology studies, biopsies of sural nerve and muscle and genetic analysis of families - will be discussed.
Georgiou DM, Jedrzejowska H, Ryniewicz B, et al., 2001, Molecular genetic studies in autosomal recessive Charcot-Marie-Tooth disease, Pages: 35-38, ISSN: 1128-2460
Autosomal recessive Charcot-Marie-Tooth disease has been classified based on clinical, neurophysiological and neuropathological criteria, into three types: CMT4A, CMT4B and CMT4C. Seven demyelinating and one axonal autosomal recessive Charcot-Marie-Tooth disease loci have thus, so far been mapped. More recently, the genes for two of these loci were identified; Myotubularin -related protein-2 for CMT4B1 and N-myc downstream -regulated gene 1 for CMT4D. We performed linkage and haplotype analyses of seven axonal autosomal recessive Charcot-Marie-Tooth disease families at the above axonal and demyelinating autosomal recessive Charcot-Marie-Tooth disease loci. Data are presented and discussed.
Middleton L, Freeman A, Brewster S, et al., 2000, From gene-specific tests to pharmacogenetics, Pages: 198-203, ISSN: 1422-2795
Over the next 3-5 years pharmacogenetics will provide opportunities to enhance the efficacy and tolerability of medicines, accelerated by the ongoing rapid development of a high-density map of single-nucleotide polymorphisms (SNP) and of high-throughput SNP scoring technologies. It is important that this application of genetic technology is clearly differentiated from genetic tests for monogenic and complex diseases, which are associated with a number of ethical, legal and social implications. The ethical, legal and social issues associated with pharmacogenetics need to be identified and clearly differentiated from those associated with gene-specific tests for disease. Copyright © 2001 S. Karger AG, Basel.
Christodoulou K, Zamba E, Tsingis M, et al., 2000, A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12, ANNALS OF NEUROLOGY, Vol: 48, Pages: 877-884, ISSN: 0364-5134
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- Citations: 34
Neocleous V, Humphray SJ, Howard PJ, et al., 2000, BAC based physical map of the distal hereditary motor neuronopathy (HMN-J) and autosomal recessive inclusion body myopathy (AR-IBM) region on chromosome 9p21.1-p12., AMERICAN JOURNAL OF HUMAN GENETICS, Vol: 67, Pages: 407-407, ISSN: 0002-9297
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- Citations: 1
Hauser ER, Mooser V, Schmidt S, et al., 2000, Concordance for cardiovascular risk factors in affected sib pairs (ASPs) with early-onset coronary artery disease (CAD)., AMERICAN JOURNAL OF HUMAN GENETICS, Vol: 67, Pages: 212-212, ISSN: 0002-9297
Wang HL, Ohno K, Milone M, et al., 2000, Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome, JOURNAL OF GENERAL PHYSIOLOGY, Vol: 116, Pages: 449-460, ISSN: 0022-1295
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- Citations: 50
Christodoulou K, Zamba E, Tsingis M, et al., 2000, A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12, Annals of Neurology, Vol: 48, Pages: 877-884, ISSN: 0364-5134
Distal hereditary motor neuronopathies (dHMNs) form a heterogeneous group of rare disorders characterized by distal weakness and wasting in the limbs with no significant sensory involvement. Harding has classified dHMNs into seven categories based on clinical and genetic criteria. We report a novel form of autosomal recessive dHMN in 7 consanguineous families located in the Jerash region of Jordan. Onset of the disease is between 6 and 10 years of age and is characterized by weakness and atrophy of the lower limbs associated with pyramidal features. Within 2 years, symptoms progress to the upper limbs. Neurophysiological studies typically show normal conduction velocities, reduced compound motor action potential amplitudes, normal sensory nerve action potentials, and chronic neurogenic changes on needle electromyography. No significant abnormalities are seen on sural nerve biopsy. We call this novel form of dHMN Jerash hereditary motor neuronopathy. We studied the families at the molecular genetic level and mapped the Jerash hereditary motor neuronopathy gene to an approximately 0.54-cM region on chromosome 9p21.1-p12, flanked by microsatellite polymorphic marker loci D9S1845 and D9S1791. A maximum LOD score of 19.80 at θ = 0.001 was obtained between the disease and locus D9S1878.
Zamba E, Christodoulou K, Al-Shehab A, et al., 2000, Clinical and genetic heterogeneity in autosomal recessive CMS Jordanian families, Acta Myologica, Vol: 19, Pages: 37-40, ISSN: 1128-2460
Christodoulou K, Neocleous V, Tsingis M, et al., 2000, Autosomal recessive congenital myasthenic syndrome in three Greek-Gypsy families, Acta Myologica, Vol: 19, Pages: 41-43, ISSN: 1128-2460
Congenital myasthenic syndromes (CMS) are a group of disorders in which neuromuscular transmission is impaired. We review our molecular genetic data in three Greek-Gypsy autosomal recessive CMS families originating from different geographic regions of Greece. Intrafamilial phenotypic variability has been reported for this group of twelve patients. Mutational screening revealed that CMS in all our Greek-Gypsy patients is caused by a single homozygous mutation (ε 1267delG) in the ε-subunit of the acetylcholine receptor. Our findings indicate that a single founder mutation may exist in the gypsy community, responsible for the development of CMS in this ethnic group.
Middleton LT, Christodoulou K, Mubaidin A, et al., 1999, Distal Hereditary Motor Neuronopathy of the Jerash Type., Ann N Y Acad Sci, Vol: 883, Pages: 65-68
A novel form of autosomal recessive distal hereditary motor neuronopathy (distal HMN) is reported. The presence of pyramidal signs within the early stages of the disease with persistence of knee hyperreflexia form distinctive clinical features. We have mapped the HMN-J gene to chromosome 9p21.1-p12, within an estimated interval of 1.2-Mb.
Middleton LT, Christodoulou K, Mubaidin A, et al., 1999, Distal Hereditary Motor Neuronopathy of the Jerash Type., Ann N Y Acad Sci, Vol: 883, Pages: 439-442
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