Genomes and Genes
- [Charcot-Marie-Tooth disease: from phenotype to genotype]O Dubourg
Rev Neurol (Paris) 160:1221-9. 2004
- Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weaknessO Dubourg
Service d explorations fonctionnelles neurologiques, Hopital de la Salpetriere, Paris, France
Muscle Nerve 23:1508-14. 2000..Results of linkage analysis excluded the Charcot-Marie-Tooth 2A (CMT2A) and CMT2B loci and suggested the possibility of a linkage to HSAN-I locus on 9q22.1-q22.3...
- The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type VO Dubourg
INSERM U679, Consultation Pluridisciplinaire des Neuropathies Héréditaires, Groupe Hospitalier Pitie Salpetriere, Paris, France
Neurology 66:1721-6. 2006..Missense mutations in the glycyl-tRNA synthetase (GARS) gene have been recently reported in families with either dHMN-V, CMT2D, or both...
- Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth diseaseO Dubourg
INSERM U289, Hopital de la Salpetriere, Paris, France
Brain 124:1958-67. 2001..CMTX patients with age at onset in the first decade mostly presented non-functional mutations, suggesting that the physiological consequences of the mutations affect age at onset in CMTX...
- The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocityO Dubourg
INSERM U289, Hopital de la Salpetriere, 47 Boulevard de l Hopital, 75651 Cedex 13, Paris, France
Neuromuscul Disord 11:458-63. 2001..This systematic approach was taken to estimate the frequency of 17p11.2 duplication and Cx32 mutations in the different Charcot-Marie-Tooth subgroups, in order to propose a practical strategy for molecular analysis...
- Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathyP Richard
Service de Biochimie B, Groupe Hospitalier Pitie Salpetriere, Paris, France
J Med Genet 36:542-5. 1999..This double heterozygosity is not lethal but is associated with a more severe phenotype...
- Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathyF Tesson
INSERM UR 153, Groupe Hospitalier Pitie Salpetriere, Paris, France
Hum Mutat 12:385-92. 1998..Additional family studies are needed to confirm these findings and to contribute to stratify the prognosis according to the mutation involved...
- Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutationsH Azzedine
INSERM U679 ex U289, Neurology and Experimental Therapeutics, La Pitie Salpetriere Hospital, Paris, France
Neurology 67:602-6. 2006..Recently, 11 mutations were identified in the SH3TC2 (KIAA1985) gene in 12 families with demyelinating ARCMT from Turkish, Iranian, Greek, Italian, or German origin...
- Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single familyC Verny
INSERM U289, Hopital Pitie Salpetriere, 47 bd de l Hopital, 75651, Paris Cedex 13, France
Neurology 63:1527-9. 2004..One had related parents, and there were no other affected relatives, suggesting an autosomal recessive mode of inheritance. Molecular studies showed that a de novo duplication in 17p11.2 and a second mutation in MTMR2 were present...
- Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathyJ Flavigny
Biochimie B, and IFR de Physiopathologie et de Génétique Cardiovasculaire, Hopital Pitie Salpetriere, Paris, France
J Mol Med (Berl) 76:208-14. 1998....
- Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 geneH Azzedine
INSERM U289, Hopital de la Salpetriere, 47 Boulevard de l Hopital, 75651 Paris 13, France
Neuromuscul Disord 13:341-6. 2003..The phenotype included hoarse voice and paralysis of the diaphragm. This study shows the variability of the phenotype associated with mutations in GDAP1 gene in terms of associated signs and severity...
- Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathyJ F Forissier
Unité de Recherches 153 de l INSERM, Paris, France
Circulation 94:3069-73. 1996....
- Accuracy of European diagnostic criteria for familial hypertrophic cardiomyopathy in a genotyped populationP Charron
Service de cardiologie, Hopital Pitie Salpetriere, Paris, France
Int J Cardiol 90:33-8; discussion 38-40. 2003..However, their diagnostic value remains unknown. The aim of the study was to evaluate the accuracy of these new criteria, using the genetic status as the criterion of reference...
- Genetic testing and genetic counselling in hypertrophic cardiomyopathy: the French experienceP Charron
Service de cardiologie, Hopital Pitie Salpetriere, Paris, France
J Med Genet 39:741-6. 2002..The aim of this work was (1) to discuss the different questions related to genetic testing in HCM, and propose guidelines for the different situations, (2) to report our preliminary experience with a specific procedure...
- Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth diseaseO Dubourg
INSERM U679 ex U289, La Pitie Salpetriere Hospital, AP HP, Paris, France
Neuromolecular Med 8:75-86. 2006..In this review, we will focus on the particular clinical and/or neuropathological features of the phenotype caused by mutations in each of these genes, which might guide molecular diagnosis...
- Charcot-Marie-Tooth features and maculopathy in a patient with Danon diseaseP Laforet
Institut de Myologie, Batiment Babinski, Groupe Hospitalier Pitie Salpetriere, 47 83 boulevard de l Hopital, 75113 Paris Cedex, France
Neurology 63:1535. 2004
- Electron microscopy in myofibrillar myopathies reveals clues to the mutated geneK G Claeys
Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, 47 83, Boulevard de l Hopital, 75651 Paris, Cedex 13, France
Neuromuscul Disord 18:656-66. 2008..We conclude that MFMs ultrastructural findings can direct diagnostic efforts towards the causal gene mutated, and that EM should be included in the diagnostic workup of MFMs...
- Relation between QT duration and maximal wall thickness in familial hypertrophic cardiomyopathyX Jouven
Service de cardiologie, Hopital Europeen Georges Pompidou, Paris, France
Heart 88:153-7. 2002..QT abnormalities have been reported in left ventricular hypertrophy and hypertrophic cardiomyopathy...
- Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain geneE Dausse
Institut National de la Sante et de la Recherche Medicale, U127, Hopital Lariboisiere, Paris, France
J Clin Invest 92:2807-13. 1993..Our results also indicate that codon 403 of the beta-myosin heavy chain gene is a hot spot for mutations causing FHC...
- Diagnostic value of markers of muscle degeneration in sporadic inclusion body myositisO Dubourg
Laboratoire de Neuropathologie, Institut de Myologie, Assistance Publique, Hopitaux de Paris, Hopital Pitie Salpetriere, Universite Pierre et Marie Curie, Paris, France
Acta Myol 30:103-8. 2011..We recommend using TDP-43 and p62 antibodies in the histological diagnosis workup of s-IBM. The specificity of these markers has to be further validated in prospective series...
- Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathyL Carrier
Unité de Recherches 153 de l INSERM, Groupe Hospitalier Pitie Salpetriere, Paris, France
Circ Res 80:427-34. 1997..This spectrum of mutations differs from the ones previously observed in other disease genes causing FHC. Our data strengthen the functional importance of MyBP-C in the regulation of cardiac work and provide the basis for further studies...
- Peripheral neuropathy and inborn errors of metabolism in adultsF Sedel
Federation of Nervous System Diseases, Salpetriere Hospital, 47 Boulevard de l Hopital, 75651, Paris Cedex 13, France
J Inherit Metab Dis 30:642-53. 2007....
- [Intramuscular vascular malformations as a differential diagnosis of focal myositis]A Froissart
Service de Medecine Interne I, Groupe Hospitalier Pitie Salpetriere, 47 83, Boulevard de l Hopital, 75651 Paris Cedex 13, France
Rev Med Interne 27:50-3. 2006..Diagnosis requires histological confirmation because of its non-specific clinical feature and the numerous differential diagnoses...
- [Developments in hereditary neuropathies]O Dubourg
Centre de référence des pathologies neuromusculaires de Paris Est, Groupe Hospitalier Pitie Salpetriere, 47 Boulevard de l Hopital, Paris Cedex 13, France
Rev Neurol (Paris) 168:983-5. 2012..CMT involving an important sensorial component, trophic disorders, or signs of dysautonomia are included in the classification of hereditary sensory and autonomic neuropathies...
- [Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis]A Behin
Centre de Référence des Maladies Rares Neuromusculaires, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, AP HP, 47 83, Boulevard de l Hopital, Paris, France
Rev Neurol (Paris) 164:434-43. 2008..2036 T>G (p.Val679Gly) substitution, the c.829 C>T (p.Arg277Cys) substitution...
- Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genesC Boileau
Unité 73 INSERM, Chateau de Longchamp, Paris, France
Am J Hum Genet 53:46-54. 1993..39 (for Fib15) and -13.34 (for Fib5), at theta = .001, indicating that the mutation is at a different locus. This phenotype thus represents a new connective-tissue disorder, overlapping but different from classic Marfan syndrome...
- The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2G Stevanin
INSERM U289, Hopital de la Salpetriere, Paris, France
Am J Hum Genet 56:193-201. 1995..3-q32.2 containing the gene for the Machado-Joseph disease, which is clinically related to the phenotype determined by SCA3, but it cannot yet be concluded that both diseases result from alterations of the same gene...
- Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1I Le Ber
INSERM U679, Hopital de la Pitie Salpetriere, Paris, France
Neurology 68:295-7. 2007..We measured muscle CoQ10 levels in six patients with AOA1 and found decreased levels in five. Patients homozygous for the W279X mutation had lower values (p = 0.003). A therapeutic trial of CoQ10 may be warranted in patients with AOA1...
- Autonomic and respiratory dysfunction in Charcot-Marie-Tooth disease due to Thr124Met mutation in the myelin protein zero geneT Stojkovic
Department of Neurology, University of Lille, 59037 Lille, France
Clin Neurophysiol 114:1609-14. 2003..To report the clinical and electrophysiological characteristics of a family presenting Charcot-Marie-Tooth disease (CMT) associated with autonomic nervous system disturbances...
- [Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation]J E Forissier
Service de cardiologie, Hopital Ambroise Pare, Boulogne Billancourt
Arch Mal Coeur Vaiss 98:67-70. 2005..Three of these disorders affect cardiac and/or skeletal muscles with atrio-ventricular conduction disturbances, dilated cardiomyopathy and sudden cardiac death as common features...
- Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10N Bondurand
, INSERM U468, , AP-HP, , , France
Hum Mol Genet 10:2783-95. 2001..In addition to providing new insights into the molecular mechanisms underlying some of the peripheral myelin defects observed in CMTX disease, these results further extend the spectrum of genes that are regulated by SOX10...
- [Evaluation of a specific French scale of activity in chronic heart failure. A national multicenter study. Group for Cardiac Insufficiency and Cardiomyopathy of the French Society of Cardiology]P Gibelin
Service de cardiologie, , Nice
Arch Mal Coeur Vaiss 92:1175-80. 1999..These results show good reproducibility and correspondence of classification with the exercise test which was better using the French Scale than the NYHA classification...
- Acute cor pulmonale in massive pulmonary embolism: incidence, echocardiographic pattern, clinical implications and recovery rateA Vieillard-Baron
Medical Intensive Care Unit, , , 9 avenue Charles de Gaulle, 92104, Boulogne Cedex, France
Intensive Care Med 27:1481-6. 2001..However, depending on its severity, metabolic acidosis could justify a large cooperative study to assess the impact of thrombolytic therapy on mortality rate in this specific group...
- [French familial multicenter survey of hypertrophic cardiomyopathy. Initial Doppler echocardiographic results]O Dubourg
Arch Mal Coeur Vaiss 86:59-64. 1993..Signs of obstruction were looked for and systolic anterior motion of the mitral valve was observed in 52% of pathological cases (45/86) and mid-systolic aortic valve closure in 30% (25/83).(ABSTRACT TRUNCATED AT 250 WORDS)..
- [Demonstration of a fifth locus implicated in familial hypertrophic cardiomyopathies]C Hengstenberg
INSERM U153, , Paris
Arch Mal Coeur Vaiss 87:1655-62. 1994..There is, therefore, a fifth gene implicated in familial HCM. The heterogeneity of the disease seems even greater than originally thought...
- A second locus for Marfan syndrome maps to chromosome 3p24.2-p25G Collod
INSERM U383, Hopital Necker Enfants Malades, Universite Rene Descartes, Paris V, France
Nat Genet 8:264-8. 1994..2-p25. In this region, the highest lod score was found with D3S2336, of 4.89 (theta = 0.05). By LINKMAP analyses, the most probable position for the second locus in MFS was at D3S2335...
- [Clinico-pathological polymorphism of hypertrophic cardiomyopathy in echocardiography]O Dubourg
Arch Mal Coeur Vaiss 88:563-7. 1995..Familial HCM usually gives rise to asymmetrical LVH affecting the septum and free wall. An identical distribution in 50% of affected first degree relatives...