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Fernando Tomé

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Disorders

Muscular Dystrophies

Chemicals & Drugs

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TOP 3
Vainzof Mariz; Richard Pascale; Herrmann Ralf; Jimenez-Mallebrera Cecilia; Talim Beril; Yamamoto Lydia U; Ledeuil Céline; Mein Rachael; Abbs Stephen; Brockington Martin; Romero Norma B; Zatz Mayana; Topaloglu Haluk; Voit Thomas; Sewry Caroline; Muntoni Francesco; Guicheney Pascale; Tomé Fernando M S
Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.
He Y; Jones K J; Vignier N; Morgan G; Chevallay M; Barois A; Estournet-Mathiaud B; Hori H; Mizuta T; Tomé F M; North K N; Guicheney P
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study.
Fayet G; Rouche A; Hogrel J Y; Tomé F M; Fardeau M
Age-related morphological changes of the deltoid muscle from 50 to 79 years of age.

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2005: Vainzof Mariz; Richard Pascale; Herrmann Ralf; Jimenez-Mallebrera Cecilia; Talim Beril; Yamamoto Lydia U; Ledeuil Céline; Mein Rachael; Abbs Stephen; Brockington Martin; Romero Norma B; Zatz Mayana; Topaloglu Haluk; Voit Thomas; Sewry Caroline; Muntoni Francesco; Guicheney Pascale; Tomé Fernando M S
Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.
Neuromuscular disorders : NMD 2005;15(9-10):588-94.
2001: He Y; Jones K J; Vignier N; Morgan G; Chevallay M; Barois A; Estournet-Mathiaud B; Hori H; Mizuta T; Tomé F M; North K N; Guicheney P
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study.
Neurology 2001;57(7):1319-22.
2001: Fayet G; Rouche A; Hogrel J Y; Tomé F M; Fardeau M
Age-related morphological changes of the deltoid muscle from 50 to 79 years of age.
Acta neuropathologica 2001;101(4):358-66.
2000: Blumen S C; Korczyn A D; Lavoie H; Medynski S; Chapman J; Asherov A; Nisipeanu P; Inzelberg R; Carasso R L; Bouchard J P; Tomé F M; Rouleau G A; Brais B
Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene.
Neurology 2000;55(9):1267-70.
2000: Calado A; Tomé F M; Brais B; Rouleau G A; Kühn U; Wahle E; Carmo-Fonseca M
Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA.
Human molecular genetics 2000;9(15):2321-8.
2000: Crosbie R H; Lim L E; Moore S A; Hirano M; Hays A P; Maybaum S W; Collin H; Dovico S A; Stolle C A; Fardeau M; Tomé F M; Campbell K P
Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions.
Human molecular genetics 2000;9(13):2019-27.
2000: Fardeau M; Vicart P; Caron A; Chateau D; Chevallay M; Collin H; Chapon F; Duboc D; Eymard B; Tomé F M; Dupret J M; Paulin D; Guicheney P
[Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material with mutation of the alphaB-cristallin gene]
Revue neurologique 2000;156(5):497-504.
2000: Eymard B; Laforêt P; Tomé F M; Collin H; Leroy J P; Hauw J J; Richard I; Beckmann J; Fardeau M
[Miyoshi distal myopathy: specific signs and incidence]
Revue neurologique 2000;156(2):161-8.
1999: Moghadaszadeh B; Topaloglu H; Merlini L; Muntoni F; Estournet B; Sewry C; Naom I; Barois A; Fardeau M; Tomé F M; Guicheney P
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome.
Neuromuscular disorders : NMD 1999;9(6-7):376-82.
1999: Blumen S C; Brais B; Korczyn A D; Medinsky S; Chapman J; Asherov A; Nisipeanu P; Codère F; Bouchard J P; Fardeau M; Tomé F M; Rouleau G A
Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease.
Annals of neurology 1999;46(1):115-8.
1999: Tomé F M
The Peter Emil Becker Award lecture 1998. The saga of congenital muscular dystrophy.
Neuropediatrics 1999;30(2):55-65.
1999: Brais B; Rouleau G A; Bouchard J P; Fardeau M; Tomé F M
Oculopharyngeal muscular dystrophy.
Seminars in neurology 1999;19(1):59-66.
1998: Tomé F M; Fardeau M
Hereditary inclusion body myopathies.
Current opinion in neurology 1998;11(5):453-9.
1998: Vicart P; Caron A; Guicheney P; Li Z; Prévost M C; Faure A; Chateau D; Chapon F; Tomé F; Dupret J M; Paulin D; Fardeau M
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.
Nature genetics 1998;20(1):92-5.
1998: Moghadaszadeh B; Desguerre I; Topaloglu H; Muntoni F; Pavek S; Sewry C; Mayer M; Fardeau M; Tomé F M; Guicheney P
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.
American journal of human genetics 1998;62(6):1439-45.
1998: Uyama E; Uchino M; Chateau D; Tomé F M
Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy.
Neuromuscular disorders : NMD 1998;8(2):119-25.
1998: Guicheney P; Vignier N; Zhang X; He Y; Cruaud C; Frey V; Helbling-Leclerc A; Richard P; Estournet B; Merlini L; Topaloglu H; Mora M; Harpey J P; Haenggeli C A; Barois A; Hainque B; Schwartz K; Tomé F M; Fardeau M; Tryggvason K
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.
Journal of medical genetics 1998;35(3):211-7.
1998: Brais B; Bouchard J P; Xie Y G; Rochefort D L; Chrétien N; Tomé F M; Lafrenière R G; Rommens J M; Uyama E; Nohira O; Blumen S; Korczyn A D; Heutink P; Mathieu J; Duranceau A; Codère F; Fardeau M; Rouleau G A;
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.
Nature genetics 1998;18(2):164-7.
1997: Khurana T S; Specht L A; Beggs A H; Tomé F M; Letureq F; Chevallay M; Chafey P; Kunkel L M
The concomitant use of dystrophin and utrophin/dystrophin related protein antibodies to reduce misdiagnosis of Duchenne/Becker muscular dystrophy.
Biochemical and biophysical research communications 1997;241(2):232-5.
1997: Brais B; Bouchard J P; Gosselin F; Xie Y G; Fardeau M; Tomé F M; Rouleau G A
Using the full power of linkage analysis in 11 French Canadian families to fine map the oculopharyngeal muscular dystrophy gene.
Neuromuscular disorders : NMD 1997;7 Suppl 1():S70-4.
1997: Tomé F M; Chateau D; Helbling-Leclerc A; Fardeau M
Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy.
Neuromuscular disorders : NMD 1997;7 Suppl 1():S63-9.
1997: Meola G; Sansone V; Rotondo G; Tomé F M; Bouchard J P
Oculopharyngeal muscular dystrophy in Italy.
Neuromuscular disorders : NMD 1997;7 Suppl 1():S53-6.
1997: Uyama E; Nohira O; Tomé F M; Chateau D; Tokunaga M; Ando M; Maki M; Okabe T; Uchino M
Oculopharyngeal muscular dystrophy in Japan.
Neuromuscular disorders : NMD 1997;7 Suppl 1():S41-9.
1997: Fardeau M; Tomé F M
Oculopharyngeal muscular dystrophy in France.
Neuromuscular disorders : NMD 1997;7 Suppl 1():S30-3.
1997: Carrié A; Piccolo F; Leturcq F; de Toma C; Azibi K; Beldjord C; Vallat J M; Merlini L; Voit T; Sewry C; Urtizberea J A; Romero N; Tomé F M; Fardeau M; Sunada Y; Campbell K P; Kaplan J C; Jeanpierre M
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
Journal of medical genetics 1997;34(6):470-5.
1997: Guicheney P; Vignier N; Helbling-Leclerc A; Nissinen M; Zhang X; Cruaud C; Lambert J C; Richelme C; Topaloglu H; Merlini L; Barois A; Schwartz K; Tomé F M; Tryggvason K; Fardeau M
Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis.
Neuromuscular disorders : NMD 1997;7(3):180-6.
1997: Eymard B; Romero N B; Leturcq F; Piccolo F; Carrié A; Jeanpierre M; Collin H; Deburgrave N; Azibi K; Chaouch M; Merlini L; Thémar-Noël C; Penisson I; Mayer M; Tanguy O; Campbell K P; Kaplan J C; Tomé F M; Fardeau M
Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.
Neurology 1997;48(5):1227-34.
1996: Jeanpierre M; Carrié A; Piccolo F; Leturcq F; Azibi K; De Toma C; Beldjord C; Merlini L; Voit T; Romero N; Sunada Y; Tomé F M; Fardeau M; Campbell K P; Kaplan J C
From adhalinopathies to alpha-sarcoglycanopathies: an overview.
Neuromuscular disorders : NMD 1996;6(6):463-5.
1996: Beckmann J S; Richard I; Broux O; Fougerousse F; Allamand V; Chiannilkulchai N; Lim L E; Duclos F; Bourg N; Brenguier L; Pasturaud P; Quétier F; Roudaut C; Sunada Y; Meyer J; Dinçer P; Lefranc G; Merlini L; Topaloglu H; Tomé F M; Cohen D; Jackson C E; Campbell K P; Fardeau M
Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies.
Neuromuscular disorders : NMD 1996;6(6):455-62.
1996: Fardeau M; Eymard B; Mignard C; Tomé F M; Richard I; Beckmann J S
Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities.
Neuromuscular disorders : NMD 1996;6(6):447-53.
1996: Piccolo F; Jeanpierre M; Leturcq F; Dodé C; Azibi K; Toutain A; Merlini L; Jarre L; Navarro C; Krishnamoorthy R; Tomé F M; Urtizberea J A; Beckmann J S; Campbell K P; Kaplan J C
A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India.
Human molecular genetics 1996;5(12):2019-22.
1996: Trevisan C P; Martinello F; Ferruzza E; Fanin M; Chevallay M; Tomé F M
Brain alterations in the classical form of congenital muscular dystrophy. Clinical and neuroimaging follow-up of 12 cases and correlation with the expression of merosin in muscle.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 1996;12(10):604-10.
1996: Pini A; Merlini L; Tomé F M; Chevallay M; Gobbi G
Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families.
Brain & development 1996;18(4):316-22.
1996: Nissinen M; Helbling-Leclerc A; Zhang X; Evangelista T; Topaloglu H; Cruaud C; Weissenbach J; Fardeau M; Tomé F M; Schwartz K; Tryggvason K; Guicheney P
Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.
American journal of human genetics 1996;58(6):1177-84.
1996: Blumen S C; Sadeh M; Korczyn A D; Rouche A; Nisipeanu P; Asherov A; Tomé F M
Intranuclear inclusions in oculopharyngeal muscular dystrophy among Bukhara Jews.
Neurology 1996;46(5):1324-8.
1996: Jung D; Leturcq F; Sunada Y; Duclos F; Tomé F M; Moomaw C; Merlini L; Azibi K; Chaouch M; Slaughter C; Fardeau M; Kaplan J C; Campbell K P
Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12.
FEBS letters 1996;381(1-2):15-20.
1996: Fardeau M; Tomé F M; Helbling-Leclerc A; Evangelista T; Ottolini A; Chevallay M; Barois A; Estournet B; Harpey J P; Fauré S; Guicheney P; Hillaire D
[Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis]
Revue neurologique 1996;152(1):11-9.
1995: Helbling-Leclerc A; Topaloglu H; Tomé F M; Sewry C; Gyapay G; Naom I; Muntoni F; Dubowitz V; Barois A; Estournet B
Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2.
Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie 1995;318(12):1245-52.
1995: Jasmin B J; Alameddine H; Lunde J A; Stetzkowski-Marden F; Collin H; Tinsley J M; Davies K E; Tomé F M; Parry D J; Cartaud J
Expression of utrophin and its mRNA in denervated mdx mouse muscle.
FEBS letters 1995;374(3):393-8.
1995: Helbling-Leclerc A; Zhang X; Topaloglu H; Cruaud C; Tesson F; Weissenbach J; Tomé F M; Schwartz K; Fardeau M; Tryggvason K
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy.
Nature genetics 1995;11(2):216-8.
1995: Khurana T S; Prendergast R A; Alameddine H S; Tomé F M; Fardeau M; Arahata K; Sugita H; Kunkel L M
Absence of extraocular muscle pathology in Duchenne's muscular dystrophy: role for calcium homeostasis in extraocular muscle sparing.
The Journal of experimental medicine 1995;182(2):467-75.
1995: Uyama E; Uchino M; Ando M; Chateau D; Tomé F M
[Oculopharyngeal muscular dystrophy specific intranuclear tubulofilamentous inclusions]
Rinsho shinkeigaku = Clinical neurology 1995;35(7):817-8.
1995: Yamada H; Tomé F M; Higuchi I; Kawai H; Azibi K; Chaouch M; Roberds S L; Tanaka T; Fujita S; Mitsui T
Laminin abnormality in severe childhood autosomal recessive muscular dystrophy.
Laboratory investigation; a journal of technical methods and pathology 1995;72(6):715-22.
1995: Villanova M; Louboutin J P; Chateau D; Eymard B; Sagniez M; Tomé F M; Fardeau M
X-linked vacuolated myopathy: complement membrane attack complex on surface membrane of injured muscle fibers.
Annals of neurology 1995;37(5):637-45.
1995: Brais B; Xie Y G; Sanson M; Morgan K; Weissenbach J; Korczyn A D; Blumen S C; Fardeau M; Tomé F M; Bouchard J P
The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13.
Human molecular genetics 1995;4(3):429-34.
1994: Roberds S L; Leturcq F; Allamand V; Piccolo F; Jeanpierre M; Anderson R D; Lim L E; Lee J C; Tomé F M; Romero N B
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.
Cell 1994;78(4):625-33.
1994: Tomé F M; Matsumura K; Chevallay M; Campbell K P; Fardeau M
Expression of dystrophin-associated glycoproteins during human fetal muscle development: a preliminary immunocytochemical study.
Neuromuscular disorders : NMD 1994;4(4):343-8.
1994: Tomé F M; Evangelista T; Leclerc A; Sunada Y; Manole E; Estournet B; Barois A; Campbell K P; Fardeau M
Congenital muscular dystrophy with merosin deficiency.
Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie 1994;317(4):351-7.
1994: Matsumura K; Tomé F M; Collin H; Leturcq F; Jeanpierre M; Kaplan J C; Fardeau M; Campbell K P
Expression of dystrophin-associated proteins in dystrophin-positive muscle fibers (revertants) in Duchenne muscular dystrophy.
Neuromuscular disorders : NMD 1994;4(2):115-20.
1994: Matsumura K; Burghes A H; Mora M; Tomé F M; Morandi L; Cornello F; Leturcq F; Jeanpierre M; Kaplan J C; Reinert P
Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH2-terminal and rod domains of dystrophin.
The Journal of clinical investigation 1994;93(1):99-105.
1994: Romero N B; Tomé F M; Leturcq F; el Kerch F E; Azibi K; Bachner L; Anderson R D; Roberds S L; Campbell K P; Fardeau M
Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.
Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie 1994;317(1):70-6.
1993: Blumen S C; Nisipeanu P; Sadeh M; Asherov A; Tomé F M; Korczyn A D
Clinical features of oculopharyngeal muscular dystrophy among Bukhara Jews.
Neuromuscular disorders : NMD 1993;3(5-6):575-7.
1993: Matsumura K; Ohlendieck K; Ionasescu V V; Tomé F M; Nonaka I; Burghes A H; Mora M; Kaplan J C; Fardeau M; Campbell K P
The role of the dystrophin-glycoprotein complex in the molecular pathogenesis of muscular dystrophies.
Neuromuscular disorders : NMD 1993;3(5-6):533-5.
1993: Matsumura K; Tomé F M; Ionasescu V; Ervasti J M; Anderson R D; Romero N B; Simon D; Récan D; Kaplan J C; Fardeau M
Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin.
The Journal of clinical investigation 1993;92(2):866-71.
1993: Matsumura K; Nonaka I; Tomé F M; Arahata K; Collin H; Leturcq F; Récan D; Kaplan J C; Fardeau M; Campbell K P
Mild deficiency of dystrophin-associated proteins in Becker muscular dystrophy patients having in-frame deletions in the rod domain of dystrophin.
American journal of human genetics 1993;53(2):409-16.
1993: Fardeau M; Matsumura K; Tomé F M; Collin H; Leturcq F; Kaplan J C; Campbell K P
Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries.
Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie 1993;316(8):799-804.
1993: Leclerc A; Tomé F M; Fardeau M
Ubiquitin and beta-amyloid-protein in inclusion body myositis (IBM), familial IBM-like disorder and oculopharyngeal muscular dystrophy: an immunocytochemical study.
Neuromuscular disorders : NMD 1993;3(4):283-91.
1992: Matsumura K; Tomé F M; Collin H; Azibi K; Chaouch M; Kaplan J C; Fardeau M; Campbell K P
Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy.
Nature 1992;359(6393):320-2.
1992: Cartaud A; Ludosky M A; Tomé F M; Collin H; Stetzkowski-Marden F; Khurana T S; Kunkel L M; Fardeau M; Changeux J P; Cartaud J
Localization of dystrophin and dystrophin-related protein at the electromotor synapse and neuromuscular junction in Torpedo marmorata.
Neuroscience 1992;48(4):995-1003.
1992: Récan D; Chafey P; Leturcq F; Hugnot J P; Vincent N; Tomé F; Collin H; Simon D; Czernichow P; Nicholson L V
Are cysteine-rich and COOH-terminal domains of dystrophin critical for sarcolemmal localization?
The Journal of clinical investigation 1992;89(2):712-6.
1991: Pons F; Augier N; Léger J O; Robert A; Tomé F M; Fardeau M; Voit T; Nicholson L V; Mornet D; Léger J J
A homologue of dystrophin is expressed at the neuromuscular junctions of normal individuals and DMD patients, and of normal and mdx mice. Immunological evidence.
FEBS letters 1991;282(1):161-5.
1991: Khurana T S; Watkins S C; Chafey P; Chelly J; Tomé F M; Fardeau M; Kaplan J C; Kunkel L M
Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle.
Neuromuscular disorders : NMD 1991;1(3):185-94.
1991: Soussi-Yanicostas N; Chevallay M; Laurent-Winter C; Tomé F M; Fardeau M; Butler-Browne G S
Distinct contractile protein profile in congenital myotonic dystrophy and X-linked myotubular myopathy.
Neuromuscular disorders : NMD 1991;1(2):103-11.
1991: Borg K; Tomé F M; Edström L
Intranuclear and cytoplasmic filamentous inclusions in distal myopathy (Welander).
Acta neuropathologica 1991;82(2):102-6.
1990: Fardeau M; Tomé F M; Collin H; Augier N; Pons F; Léger J; Léger J
[Presence of dystrophine-like protein at the neuromuscular junction in Duchenne muscular dystrophy and in "mdx" mutant mice]
Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie 1990;311(5):197-204.
1988: Tomé F M; Tegnér R; Chevallay M
Varicosities in human fetal sciatic nerve fibres.
Neuropathology and applied neurobiology 1988;14(6):495-504.
1988: Pernelle J J; Chafey P; Chelly J; Wahrmann J P; Kaplan J C; Tomé F; Fardeau M
Nebulin seen in DMD males including one patient with a large DNA deletion encompassing the DMD gene.
Human genetics 1988;78(3):285.
1988: Tegnér R; Tomé F M; Godeau P; Lhermitte F; Fardeau M
Morphological study of peripheral nerve changes induced by chloroquine treatment.
Acta neuropathologica 1988;75(3):253-60.
1981: Tomé F M; Fardeau M; Lebon P; Chevallay M
Inclusion body myositis.
Acta neuropathologica. Supplementum 1981;7():287-91.

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Fernando Tomé

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