Published in Hum Genet on April 01, 1993
The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q. Am J Hum Genet (1996) 1.09
A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population. BMC Med Genet (2012) 0.87
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet (1998) 3.62
ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet (2000) 3.17
Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol (1997) 1.79
Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. Am J Hum Genet (1999) 1.78
Role of cellular zinc in programmed cell death: temporal relationship between zinc depletion, activation of caspases, and cleavage of Sp family transcription factors. Biochem Pharmacol (2001) 1.18
Specific pathological Tau protein variants characterize Pick's disease. J Neuropathol Exp Neurol (1996) 1.18
Hereditary disorders in the French Canadian population of Quebec. I. In search of founders. Hum Biol (1994) 1.13
The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q. Am J Hum Genet (1996) 1.09
Relationship between chronic hypercapnia and inspiratory-muscle weakness in myotonic dystrophy. Am J Respir Crit Care Med (1997) 1.06
A study of inbreeding and kinship in intracranial aneurysms in the Saguenay Lac-Saint-Jean region (Quebec, Canada). Ann Hum Genet (1996) 1.05
A polysomnographic study of daytime sleepiness in myotonic dystrophy type 1. J Neurol Neurosurg Psychiatry (2009) 1.04
Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec. Genet Epidemiol (1993) 1.03
Bilateral adrenal myelolipomas. JBR-BTR (2008) 1.03
Fatigue and daytime sleepiness rating scales in myotonic dystrophy: a study of reliability. J Neurol Neurosurg Psychiatry (2005) 1.03
A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians. Neurology (2007) 1.02
Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 19. Neurology (1990) 1.00
Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuromuscul Disord (1998) 0.99
Cooperative action of ADMP- and BMP-mediated pathways in regulating cell fates in the zebrafish gastrula. Dev Biol (2002) 0.99
Evaluation of the arterial blood pressure of dogs by two noninvasive methods. Can J Comp Med (1985) 0.98
Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French-Canadian population. Hum Mol Genet (1994) 0.97
Recombinant glycosylated human interleukin-6 accelerates peripheral blood platelet count recovery in radiation-induced bone marrow depression in baboons. Blood (1992) 0.97
Repeatability of lung density measurements with low-dose computed tomography in subjects with alpha-1-antitrypsin deficiency-associated emphysema. Invest Radiol (2001) 0.96
Corpus callosum agenesis and psychosis in Andermann syndrome. Arch Neurol (1991) 0.95
Rest behavior. Vet Clin North Am Equine Pract (1986) 0.95
IL-1beta, TNFalpha and IL-6 induction in the rat brain after partial-body irradiation: role of vagal afferents. Int J Radiat Biol (2003) 0.93
Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens. Mol Hum Reprod (1996) 0.93
Physiologic and behavioral evaluation of CO euthanasia of adult dogs. Am J Vet Res (1983) 0.92
The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease. Hum Genet (2000) 0.91
Plant preference for ammonium versus nitrate: a neglected determinant of ecosystem functioning? Am Nat (2012) 0.89
Pulsatile release of gonadotropin-releasing hormone from hypothalamic explants is restrained by blockade of N-methyl-D,L-aspartate receptors. Endocrinology (1989) 0.88
A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34. Brain (2006) 0.87
Flow cytometry analysis of gamma-radiation-induced Epstein-Barr virus reactivation in lymphocytes. Radiat Res (2003) 0.87
Maturation of the hypothalamic control of pulsatile gonadotropin-releasing hormone secretion at onset of puberty. I. Increased activation of N-methyl-D-aspartate receptors. Endocrinology (1990) 0.86
Non-thermal effects of continuous 2.45 GHz microwaves on Fas-induced apoptosis in human Jurkat T-cell line. Bioelectrochemistry (2000) 0.86
The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy. Clin Genet (2007) 0.85
Behavioural, physiological and metabolic responses to long-term starvation and refeeding in a blind cave-dwelling (Proteus anguinus) and a surface-dwelling (Euproctus asper) salamander. J Exp Biol (2001) 0.85
Diversity of ARSACS mutations in French-Canadians. Can J Neurol Sci (2013) 0.84
Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions. Neurology (2006) 0.84
Season of birth and Alzheimer's disease: a population-based study in Saguenay-Lac-St-Jean/Québec (IMAGE Project). Psychol Med (1996) 0.83
Health supervision and anticipatory guidance in adult myotonic dystrophy type 1. Neuromuscul Disord (2010) 0.83
Sleep and wakefulness in the housed pony under different dietary conditions. Can J Comp Med (1974) 0.83
Origin and diffusion of the myotonic dystrophy gene in the Saguenay region (Quebec). Can J Neurol Sci (1989) 0.82
Chronic restraint stress induces severe disruption of the T-cell specific response to tetanus toxin vaccine. Immunology (2001) 0.82
Polygraphic analysis of the sleep-wake states and the REM sleep periodicity in domesticated pigs (Sus scrofa). Physiol Behav (1986) 0.82
Intra- and inter-subject variabilities of CGP 33101 after replicate single oral doses of two 200-mg tablets and 400-mg suspension. Pharm Res (1995) 0.82
[Myotonic dystrophy: II. Marital status, fertility and gene transmission]. Can J Neurol Sci (1989) 0.81
Evaluation of C-2-substituted 19-nor-1alpha,25-dihydroxyvitamin D3 analogs as therapeutic agents for prostate cancer. J Steroid Biochem Mol Biol (2007) 0.81
Increased bax expression is associated with cell death induced by ganciclovir in a herpes thymidine kinase gene-expressing glioma cell line. Hum Gene Ther (1999) 0.81
Cutaneous challenge with chemical warfare agents in the SKH-1 hairless mouse. (I) Development of a model for screening studies in skin decontamination and protection. Hum Exp Toxicol (2010) 0.81
The reduction of in vitro radiation-induced Fas-related apoptosis in CD34+ progenitor cells by SCF, FLT-3 ligand, TPO, and IL-3 in combination resulted in CD34+ cell proliferation and differentiation. Stem Cells (1999) 0.80
Clinical and genetic knowledge and attitudes of patients with myotonic dystrophy type 1. Public Health Genomics (2010) 0.80
Sibship stability of genotype and phenotype in myotonic dystrophy. Clin Genet (2002) 0.80
Sagittal mobility of the normal ankle. Clin Orthop Relat Res (1975) 0.79
Percutaneous embolic occlusion of an acquired bleeding intrarenal aneurysm. Eur Urol (1978) 0.79
[Bilateral xantogranulomatous pyelonephritis (author's transl)]. J Radiol Electrol Med Nucl (1976) 0.79
Ex vivo expanded mobilized peripheral blood CD34+ cells accelerate haematological recovery in a baboon model of autologous transplantation. Br J Haematol (2000) 0.79
Sleep patterns in the pony with observations on partial perceptual deprivation. Physiol Behav (1974) 0.79
Founder effect in beta-thalassaemia in Portneuf, Québec. Nouv Rev Fr Hematol (1993) 0.78
Premedication of dogs with acepromazine or pentazocine before euthanasia with carbon monoxide. Can J Comp Med (1985) 0.78
Role of nitric oxide in depressed lymphoproliferative responses and altered cytokine production following thermal injury in rats. Cell Immunol (1998) 0.78
Fertility in myotonic dystrophy in Saguenay-Lac-St-Jean: a historical perspective. Clin Genet (1992) 0.78
Nitric oxide mediates the depression of lymphoproliferative responses following burn injury in rats. Biomed Pharmacother (1992) 0.78
Peripheral nerve sheath tumor of the diaphragm with osseous differentiation in a one-year-old dog. J Am Anim Hosp Assoc (1999) 0.78
[Myotonic dystrophy: I. Socioeconomic and residential characteristics of the patients]. Can J Neurol Sci (1989) 0.78
Inbreeding in Saguenay-Lac-St-Jean (Quebec, Canada): a study of Catholic Church dispensations 1842-1971. Hum Hered (1991) 0.78
Preoperative embolization of renal tumors--comparison of different methods. Eur Urol (1980) 0.77
A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21. Brain (2006) 0.77
The bacterial nucleoside N(6)-methyldeoxyadenosine induces the differentiation of mammalian tumor cells. Biochem Biophys Res Commun (2001) 0.77
Modulation of leucocyte activation in the early phase of the rabbit burn injury. Burns Incl Therm Inj (1988) 0.77
Alzheimer's disease: preliminary study of spatial distribution at birth place. Soc Sci Med (1996) 0.77
Gulf war syndrome: could it be triggered by biological warfare-vaccines using pertussis as an adjuvant? Med Hypotheses (2002) 0.76
Anti-inflammatory properties of a novel wound healing and immunomodulating agent, tetrachlorodecaoxygen complex (TCDO). Agents Actions (1990) 0.76
Locomotory, ventilatory and metabolic responses of the subterranean Stenasellus virei (Crustacea, Isopoda) to severe hypoxia and subsequent recovery. C R Acad Sci III (1997) 0.76
Hereditary disorders in the French Canadian population of Quebec. II. Contribution of Perche. Hum Biol (1994) 0.76
[Rarefactive osteosis in liver cirrhosis]. Presse Med (1965) 0.76
The pleiotropic expression of the myotonic dystrophy protein kinase gene illustrates the complex relationships between genetic, biological and clinical covariates of male aging. Aging Male (2002) 0.76
Immunization of mice with proteins reacted with malonic dialdehyde (MDA): comparison between autologous and heterologous modified proteins. Biochem Mol Biol Int (1994) 0.76
Polyphosphoinositide metabolism in polymorphonuclear cells from healthy and thermally injured rats: effect of the immunomodulator RU 41740. J Leukoc Biol (1991) 0.76
Interleukine-8 acts as a strong peripheral blood granulocyte-recruiting agent rather than as a hematopoietic progenitor cell-mobilizing factor. J Hematother Stem Cell Res (1999) 0.76
[The periodicity of rem-sleep: experimental and theoretical considerations (author's transl)]. Physiol Behav (1974) 0.76
[Cerebrospinal fluid composition in newborn piglets]. Can J Comp Med (1981) 0.75
Eicosanoid release and early changes in two acute non specific inflammatory reactions. Major role of prostacyclin and leukotrienes. Prostaglandins Leukot Essent Fatty Acids (1991) 0.75
[Culdoscopy in the diagnosis of extra-uterine pregnancy]. Bull Fed Soc Gynecol Obstet Lang Fr (1966) 0.75
Ascertainment of informative Alzheimer disease families from the IMAGE Project registry for genetic linkage analysis studies. Can J Neurol Sci (1989) 0.75
Antibodies against malondialdehyde-modified proteins. Induction and ELISA measurement of specific antibodies. Methods Mol Biol (1998) 0.75
Myotonic dystrophy: linkage with apolipoprotein E and estimation of the gene carrier status with genetic markers. Can J Neurol Sci (1989) 0.75
Familial factors in Alzheimer's disease (IMAGE project). A case-control study in the Saguenay-Lac-St-Jean region (Quebec, Canada). Eur Neurol (1989) 0.75
[The reproduction of families affected by Steinert's dystrophy in Saguenay (Quebec), 1885-1971: demographic parameters]. Genus (1991) 0.75
[Spreading of the gene for myotonic dystrophy in Saguenay (Quebec)]. J Genet Hum (1988) 0.75
[Introducing a medico-psychological center into a rural area. Methodology]. Soins Psychiatr (1996) 0.75
[The interaction of oxaceprol and fluindione]. Therapie (1990) 0.75
[Genealogical study of oculopharyngeal dystrophy at Saguenay-Lac-St-Jean, Quebec, Canada]. Rev Neurol (Paris) (1992) 0.75
[Not Available]. Rev Hist Am Fr (1981) 0.75
[Preliminary results on the residence distribution at birth of patients with Alzheimer's disease in the Saguenay-Lac-Saint-Jean/Quebec (the IMAGE project)]. Cah Sociol Demogr Med (1992) 0.75
[Place of hysterosalpingography in the methods of diagnosis of extra-uterine pregnancy]. Bull Fed Soc Gynecol Obstet Lang Fr (1966) 0.75
[Thermal stability of carbonates in bone tissue]. J Biol Buccale (1982) 0.75
Beta-carotene enhances natural killer cell activity in athymic mice. In Vivo (1997) 0.75
Hypertriglyceridemia and lower LDL cholesterol concentration in relation to apolipoprotein E phenotypes in myotonic dystrophy. Can J Neurol Sci (1989) 0.75
Utility of short-latency evoked potentials in the classification of progressive, early onset cerebellar ataxias. Electroencephalogr Clin Neurophysiol Suppl (1990) 0.75