Published in Am J Hum Genet on January 01, 1990
Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet (1991) 2.26
Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. Am J Hum Genet (1993) 1.97
Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. J Med Genet (1992) 1.57
Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success. Genes (Basel) (2014) 1.56
Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12. Am J Hum Genet (1990) 1.07
Hereditary motor and sensory neuropathies. J Med Genet (1991) 1.02
Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids. Am J Hum Genet (1990) 1.01
Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group. J Med Genet (1992) 0.95
Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases. J Med Genet (1991) 0.83
Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers. Am J Hum Genet (1992) 0.83
Peroneal muscular atrophy with hereditary spastic paraparesis (HMSN V) is pathologically heterogeneous. Report of nerve biopsy in four cases and review of the literature. Acta Neuropathol (1992) 0.82
Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families. J Med Genet (1992) 0.81
Charcot-Marie-Tooth disease type 1A duplication with severe paresis of the proximal lower limb muscles: a long-term follow-up study. J Neurol Neurosurg Psychiatry (2006) 0.79
Charcot-Marie-Tooth disease type 1. J Med Genet (1992) 0.75
The clinical features of hereditary motor and sensory neuropathy types I and II. Brain (1980) 4.79
Precise localization of NF1 to 17q11.2 by balanced translocation. Am J Hum Genet (1989) 3.27
Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. Exp Neurol (1989) 2.58
Multipoint linkage analysis in neurofibromatosis type I: an international collaboration. Am J Hum Genet (1989) 2.04
Absence of linkage of hereditary motor and sensory neuropathy type I to chromosome 1 markers. Genomics (1989) 2.00
Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am J Hum Genet (1982) 1.69
Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I). Ann Neurol (1983) 1.30
Linkage evidence for genetic heterogeneity among kinships with hereditary motor and sensory neuropathy, type I. Mayo Clin Proc (1983) 1.24
Linkage of autosomal dominant type I hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1. J Neurol Neurosurg Psychiatry (1982) 1.09
Regional chromosomal assignment of human renin gene to 1q12----qter and use in linkage studies in Charcot-Marie-Tooth disease. Cytogenet Cell Genet (1987) 0.88
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature (1991) 9.89
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature (1988) 7.65
Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology (2006) 6.44
Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain (1981) 5.19
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet (1990) 4.96
The clinical features of hereditary motor and sensory neuropathy types I and II. Brain (1980) 4.79
Classification of the hereditary ataxias and paraplegias. Lancet (1983) 4.44
Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. Nature (1993) 4.39
Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet (1992) 3.55
The worldwide magnitude of protein-energy malnutrition: an overview from the WHO Global Database on Child Growth. Bull World Health Organ (1993) 3.36
Debrisoquine hydroxylase gene polymorphism and susceptibility to Parkinson's disease. Lancet (1992) 3.30
Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J Med Genet (2001) 3.28
Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy. J Med Genet (1989) 3.25
Localization of human immunoglobulin kappa light chain variable region genes to the short arm of chromosome 2 by in situ hybridization. Proc Natl Acad Sci U S A (1982) 3.07
Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry (1981) 2.95
The clinical features of mitochondrial myopathy. Brain (1986) 2.95
The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain (1995) 2.94
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet (2000) 2.87
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet (1994) 2.85
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet (1994) 2.83
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet (1995) 2.49
The dual burden household and the nutrition transition paradox. Int J Obes (Lond) (2005) 2.42
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science (1995) 2.38
A study of hereditary essential tremor. Brain (1994) 2.37
Genetic aspects of hereditary motor and sensory neuropathy (types I and II). J Med Genet (1980) 2.36
Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples. Lancet (1991) 2.36
Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nat Genet (1992) 2.18
Evidence for glutamate excitotoxicity in Huntington's disease with proton magnetic resonance spectroscopy. Lancet (1994) 2.17
Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families. Am J Hum Genet (1995) 2.12
Clinical and laboratory findings in referrals for mitochondrial DNA analysis. Arch Dis Child (1998) 2.12
Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet (2001) 2.07
The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study. Neurology (2011) 2.06
Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet (1996) 2.03
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet (1993) 2.02
Absence of linkage of hereditary motor and sensory neuropathy type I to chromosome 1 markers. Genomics (1989) 2.00
Spinocerebellar degeneration associated with a selective defect of vitamin E absorption. N Engl J Med (1985) 1.99
Diagnosis of Gerstmann-Sträussler syndrome in familial dementia with prion protein gene analysis. Lancet (1989) 1.97
Guidelines for DNA banking. Report of the Clinical Genetics Society working party on DNA banking. J Med Genet (1989) 1.91
Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA. Ann Neurol (1989) 1.88
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet (1998) 1.87
Effects of peroxynitrite-induced protein modifications on tyrosine phosphorylation and degradation. FEBS Lett (1996) 1.87
Isolation and partial sequence of recombinant plasmids containing human alpha-, beta- and gamma-globin cDNA fragments. Nature (1978) 1.83
Headache in type I Chiari malformation. Neurology (1992) 1.78
Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations. Proc Natl Acad Sci U S A (1996) 1.76
Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations. J Med Genet (1995) 1.73
IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum Mol Genet (1997) 1.72
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. J Med Genet (2006) 1.72
Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. Brain (1991) 1.67
Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome. Brain (1997) 1.65
Chromosome translocation can occur on either side of the c-myc oncogene in Burkitt lymphoma cells. Nature (1984) 1.63
The phenotypic manifestations of chromosome 17p11.2 duplication. Brain (1997) 1.63
Intrafamilial correlation in Friedreich's ataxia. Clin Genet (1981) 1.62
Degenerative cerebellar ataxia and focal dystonia. Mov Disord (1988) 1.58
Overweight and underweight coexist within households in Brazil, China and Russia. J Nutr (2000) 1.58
Spinocerebellar degeneration secondary to chronic intestinal malabsorption: a vitamin E deficiency syndrome. Ann Neurol (1982) 1.56
Chromosomal localization of a single copy gene by in situ hybridization--human beta globin genes on the short arm of chromosome 11. Ann Hum Genet (1981) 1.56
Vitamin E and the nervous system. Crit Rev Neurobiol (1987) 1.55
Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. J Med Genet (1993) 1.54
Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs. Hum Genet (2000) 1.54
Isolated unilateral hypoglossal nerve palsy: nine cases. J Neurol (1998) 1.54
Persistent functional deficit in multiple sclerosis and autosomal dominant cerebellar ataxia is associated with axon loss. Brain (1995) 1.53
Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study. Brain (1991) 1.53
Screening blood donors for gastrointestinal illness: a strategy to eliminate carriers of Yersinia enterocolitica. Transfusion (1991) 1.52
Olivopontocerebellar atrophy. A review of 117 cases. J Neurol Sci (1982) 1.51
Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. Am J Hum Genet (1991) 1.50
INFORMAS (International Network for Food and Obesity/non-communicable diseases Research, Monitoring and Action Support): overview and key principles. Obes Rev (2013) 1.46
Acute motor conduction block neuropathy pattern occurring in the course of an acute inflammatory demyelinating polyradiculoneuropathy. Neurophysiol Clin (2008) 1.46
Peroneal muscular atrophy with pyramidal features. J Neurol Neurosurg Psychiatry (1984) 1.45
A case-control study of idiopathic torsion dystonia. Mov Disord (1991) 1.45
Exclusion of candidate genes from a role in cleft lip with or without cleft palate: linkage and association studies. J Med Genet (1993) 1.45
Isolated headache as the presenting clinical manifestation of intracranial tumors: a prospective study. Cephalalgia (1994) 1.44
Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature. J Neurol Sci (1980) 1.41
Assessment of the hypothalamic-pituitary-adrenal axis function after corticosteroid therapy for MS relapses. Acta Neurol Scand (1990) 1.40
The dose of propranolol for migraine prophylaxis. Efficacy of low doses. Cephalalgia (1989) 1.40
The heart disease of Friedreich's ataxia: a clinical and electrocardiographic study of 115 patients, with an analysis of serial electrocardiographic changes in 30 cases. Q J Med (1983) 1.39
Paraneoplastic myotonia. Muscle Nerve (1994) 1.39
Serum vitamin E concentrations in degenerative ataxias. J Neurol Neurosurg Psychiatry (1989) 1.38
Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. Hum Mol Genet (1996) 1.38
[Epilepsy in Spain: comments concerning an unusual factor in decompensation]. Med Clin (Barc) (1991) 1.37
Basichondrocranium anomalies in adult Chiari type I malformation: a morphometric study. J Neurol Sci (1990) 1.37
Autosomal recessive forms of hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry (1980) 1.36
Nondisjunction of chromosome 15: origin and recombination. Am J Hum Genet (1993) 1.34
A genetic study of idiopathic focal dystonias. Ann Neurol (1991) 1.33
Prevalence of primary Sjögren's syndrome in patients with multiple sclerosis. Ann Neurol (1990) 1.31
A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies. Nat Genet (1993) 1.31
Use of X chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency. Lancet (1988) 1.31
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome. Am J Hum Genet (1991) 1.30
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen. Hum Genet (2000) 1.29
Confirmation of an association between RFLPs at the transforming growth factor-alpha locus and non-syndromic cleft lip and palate. J Med Genet (1992) 1.28
Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32. J Med Genet (1999) 1.28
Localization of the human alpha-globin gene cluster to the short arm of chromosome 16 (16p12-16pter) by hybridization in situ. J Mol Biol (1982) 1.27
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet (2005) 1.27
Fibroblast growth factor receptors: lessons from the genes. Trends Biochem Sci (1998) 1.26
Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study. J Neurol Neurosurg Psychiatry (1997) 1.26