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Fernando Tomé

Research Profile

Disorders

Muscular Dystrophies

Chemicals & Drugs

Concepts & Ideas

Pedigree

Anatomy

Procedures

Genes & Molecular Sequences

Recessive Genes

Physiology

Mutation

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Publications

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

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All Publications

2005: Mariz Vainzof; Pascale Richard; Ralf Herrmann; Cecilia Jimenez-Mallebrera; Beril Talim; Lydia U Yamamoto; Céline Ledeuil; Rachael Mein; Stephen Abbs; Martin Brockington; Norma B Romero; Mayana Zatz; Haluk Topaloglu; Thomas Voit; Caroline Sewry; Francesco Muntoni; Pascale Guicheney; Fernando M S Tomé
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: Y He; K J Jones; Nicolas Vignier; G Morgan; M Chevallay; Annie Barois; Brigitte Estournet-Mathiaud; H Hori; T Mizuta; Fernando M S Tomé; K N North; Pascale Guicheney
Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study.
Neurology 2001;57(7):1319-22.
2001: Guillemette Fayet; Andrée Rouche; Jean-Yves Hogrel; Fernando M S Tomé; Michel Fardeau
Age-related morphological changes of the deltoid muscle from 50 to 79 years of age.
Acta neuropathologica 2001;101(4):358-66.
2000: Sergiu C Blumen; Amos D Korczyn; Hugo Lavoie; S Medynski; Joab Chapman; A Asherov; Puiu Nisipeanu; Rivka Inzelberg; Ralph L Carasso; Jean-Pierre Bouchard; Fernando M S Tomé; Guy Rouleau; Bernard Brais
Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene.
Neurology 2000;55(9):1267-70.
2000: Angelo Calado; Fernando M S Tomé; Bernard Brais; G A Rouleau; Uwe Kühn; Elmar Wahle; Maria Carmo-Fonseca
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: Rachelle H Crosbie; LE Lim; Steven A Moore; M Hirano; A P Hays; Simon Maybaum; H Collin; Sherri A Dovico; Catherine Stolle; Michel Fardeau; Fernando M S Tomé; Kevin P Campbell
Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions.
Human molecular genetics 2000;9(13):2019-27.
2000: Michel Fardeau; Patrick Vicart; A Caron; D Chateau; M Chevallay; H Collin; Françoise Chapon; Denis Duboc; Bruno Eymard; Fernando M S Tomé; Jean-Marie Dupret; D Paulin; Pascale Guicheney
[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: Bruno Eymard; Pascal Laforêt; Fernando M S Tomé; H Collin; Jean-Paul Leroy; JEAN-JACQUES HAUW; I Richard; Jacques Beckmann; Michel Fardeau
[Miyoshi distal myopathy: specific signs and incidence].
Revue neurologique 2000;156(2):161-8.
1999: Behzad Moghadaszadeh; Haluk Topaloglu; Luciano Merlini; Francesco Muntoni; Brigitte Estournet; Caroline Sewry; IS Naom; Annie Barois; Michel Fardeau; Fernando M S Tomé; Pascale Guicheney
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome.
Neuromuscular disorders : NMD 1999;9(6-7):376-82.
1999: Sergiu C Blumen; Bernard Brais; Amos D Korczyn; S Medinsky; Joab Chapman; A Asherov; Puiu Nisipeanu; François Codère; Jean-Pierre Bouchard; M Fardeau; Fernando M S Tomé; Guy Rouleau
Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease.
Annals of neurology 1999;46(1):115-8.
1999: Fernando M S Tomé
The Peter Emil Becker Award lecture 1998. The saga of congenital muscular dystrophy.
Neuropediatrics 1999;30(2):55-65.
1999: Bernard Brais; G A Rouleau; Jean-Pierre Bouchard; M Fardeau; Fernando M S Tomé
Oculopharyngeal muscular dystrophy.
Seminars in neurology 1999;19(1):59-66.
1998: Fernando M S Tomé; M Fardeau
Hereditary inclusion body myopathies.
Current opinion in neurology 1998;11(5):453-9.
1998: Patrick Vicart; A Caron; Pascale Guicheney; Zhenlin Li; Marie-Christine Prévost; A Faure; D Chateau; Françoise Chapon; Fernando M S Tomé; Jean-Marie Dupret; D Paulin; Michel Fardeau
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.
Nature genetics 1998;20(1):92-5.
1998: Behzad Moghadaszadeh; Isabelle Desguerre; Haluk Topaloglu; Francesco Muntoni; S Pavek; Caroline Sewry; M Mayer; Michel Fardeau; Fernando M S Tomé; Pascale Guicheney
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: Eiichiro Uyama; Makoto Uchino; D Chateau; Fernando M S Tomé
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: Pascale Guicheney; Nicolas Vignier; X Zhang; Y He; C Cruaud; V Frey; AH Helbling-Leclerc; Pascale Richard; Brigitte Estournet; Luciano Merlini; Haluk Topaloglu; Marina Mora; J P Harpey; Christine Haenggeli; Annie Barois; Bernard Hainque; Ketty Schwartz; Fernando M S Tomé; Michel Fardeau; K Tryggvason
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: Bernard Brais; Jean-Pierre Bouchard; Ya-Gang Xie; Daniel Rochefort; N Chrétien; Fernando M S Tomé; Ronald G Lafrenière; Johanna M Rommens; Eiichiro Uyama; O Nohira; Sergiu C Blumen; Amos D Korczyn; Peter Heutink; Jean Mathieu; André Duranceau; François Codère; M Fardeau; Guy Rouleau; A D Korcyn
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.
Nature genetics 1998;18(2):164-7.
1997: T S Khurana; L A Specht; Alan H Beggs; Fernando M S Tomé; F Letureq; M Chevallay; P Chafey; Louis Kunkel
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: Bernard Brais; Jean-Pierre Bouchard; F Gosselin; Ya-Gang Xie; M Fardeau; Fernando M S Tomé; Guy Rouleau
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: Fernando M S Tomé; D Chateau; AH Helbling-Leclerc; Michel Fardeau
Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy.
Neuromuscular disorders : NMD 1997;7 Suppl 1():S63-9.
1997: Giovanni Meola; Valeria Sansone; G Rotondo; Fernando M S Tomé; Jean-Pierre Bouchard
Oculopharyngeal muscular dystrophy in Italy.
Neuromuscular disorders : NMD 1997;7 Suppl 1():S53-6.
1997: Eiichiro Uyama; O Nohira; Fernando M S Tomé; D Chateau; M Tokunaga; M Ando; M Maki; T Okabe; Makoto Uchino
Oculopharyngeal muscular dystrophy in Japan.
Neuromuscular disorders : NMD 1997;7 Suppl 1():S41-9.
1997: Michel Fardeau; Fernando M S Tomé
Oculopharyngeal muscular dystrophy in France.
Neuromuscular disorders : NMD 1997;7 Suppl 1():S30-3.
1997: Alain Carrié; Federica Piccolo; France Leturcq; C de Toma; K Azibi; Cherif Beldjord; J M Vallat; Luciano Merlini; T Voit; Caroline Sewry; J Andoni Urtizberea; Norma B Romero; Fernando M S Tomé; Michel Fardeau; Y Sunada; Kevin P Campbell; Jean-Claude Kaplan; Marc Jeanpierre
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: Pascale Guicheney; Nicolas Vignier; AH Helbling-Leclerc; M Nissinen; X Zhang; C Cruaud; J C Lambert; C Richelme; Haluk Topaloglu; Luciano Merlini; Annie Barois; Ketty Schwartz; Fernando M S Tomé; K Tryggvason; Michel Fardeau
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: Bruno Eymard; Norma B Romero; France Leturcq; Federica Piccolo; Alain Carrié; Marc Jeanpierre; H Collin; Nathalie Deburgrave; K Azibi; M Chaouch; Luciano Merlini; C Thémar-Noël; I Penisson; Michèle Mayer; O Tanguy; Kevin P Campbell; Jean-Claude Kaplan; Fernando M S Tomé; Michel Fardeau
Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.
Neurology 1997;48(5):1227-34.
1996: Marc Jeanpierre; Alain Carrié; Federica Piccolo; France Leturcq; K Azibi; C de Toma; Cherif Beldjord; Luciano Merlini; T Voit; Norma B Romero; Y Sunada; Fernando M S Tomé; M Fardeau; Kevin P Campbell; Jean-Claude Kaplan
From adhalinopathies to alpha-sarcoglycanopathies: an overview.
Neuromuscular disorders : NMD 1996;6(6):463-5.
1996: Jacques Beckmann; Isabelle Richard; O Broux; Françoise Fougerousse; V Allamand; N Chiannilkulchai; LE Lim; F Duclos; Nathalie Bourg; L Brenguier; P Pasturaud; F Quétier; Carinne Roudaut; Y Sunada; J Meyer; Pervin Dinçer; Gérard Lefranc; Luciano Merlini; Haluk Topaloglu; Fernando M S Tomé; D Cohen; CE Jackson; Kevin P Campbell; M Fardeau
Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies.
Neuromuscular disorders : NMD 1996;6(6):455-62.
1996: M Fardeau; Bruno Eymard; C Mignard; Fernando M S Tomé; Isabelle Richard; Jacques Beckmann
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: Federica Piccolo; Marc Jeanpierre; France Leturcq; Catherine Dodé; K Azibi; A Toutain; Luciano Merlini; L Jarre; C Navarro; R Krishnamoorthy; Fernando M S Tomé; J Andoni Urtizberea; Jacques Beckmann; Kevin P Campbell; Jean-Claude Kaplan
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: Carlo Pietro Trevisan; F Martinello; E Ferruzza; Marina Fanin; M Chevallay; Fernando M S Tomé
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: Antonella Pini; Luciano Merlini; Fernando M S Tomé; M Chevallay; G Gobbi
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: M Nissinen; AH Helbling-Leclerc; X Zhang; T Evangelista; Haluk Topaloglu; C Cruaud; Jean Weissenbach; M Fardeau; Fernando M S Tomé; Ketty Schwartz; Karl Tryggvason; Pascale Guicheney
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: Sergiu C Blumen; M Sadeh; Amos D Korczyn; A Rouche; Puiu Nisipeanu; A Asherov; Fernando M S Tomé
Intranuclear inclusions in oculopharyngeal muscular dystrophy among Bukhara Jews.
Neurology 1996;46(5):1324-8.
1996: D Jung; France Leturcq; Y Sunada; F Duclos; Fernando M S Tomé; Carolyn Moomaw; Luciano Merlini; K Azibi; M Chaouch; C Slaughter; M Fardeau; Jean-Claude Kaplan; Kevin P Campbell
Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12.
FEBS letters 1996;381(1-2):15-20.
1996: M Fardeau; Fernando M S Tomé; AH Helbling-Leclerc; T Evangelista; A Ottolini; M Chevallay; Annie Barois; Brigitte Estournet; J P Harpey; S Fauré; Pascale Guicheney; D Hillaire
[Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis].
Revue neurologique 1996;152(1):11-9.
1995: AH Helbling-Leclerc; Haluk Topaloglu; Fernando M S Tomé; C Sewry; G Gyapay; IS Naom; Francesco Muntoni; Victor Dubowitz; Annie Barois; Brigitte Estournet
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: Bernard J Jasmin; H Alameddine; John A Lunde; F Stetzkowski-Marden; H Collin; Jon Tinsley; Kay E Davies; Fernando M S Tomé; D J Parry; Jean Cartaud
Expression of utrophin and its mRNA in denervated mdx mouse muscle.
FEBS letters 1995;374(3):393-8.
1995: AH Helbling-Leclerc; X Zhang; Haluk Topaloglu; C Cruaud; Frédérique Tesson; Jean Weissenbach; Fernando M S Tomé; Ketty Schwartz; M Fardeau; Karl Tryggvason
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy.
Nature genetics 1995;11(2):216-8.
1995: T S Khurana; R A Prendergast; H S Alameddine; Fernando M S Tomé; M Fardeau; K Arahata; H Sugita; Louis Kunkel
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: Eiichiro Uyama; Makoto Uchino; Masayuki Ando; D Chateau; Fernando M S Tomé
[Oculopharyngeal muscular dystrophy specific intranuclear tubulofilamentous inclusions].
Rinshō shinkeigaku = Clinical neurology 1995;35(7):817-8.
1995: Hiroki Yamada; Fernando M S Tomé; I Higuchi; H Kawai; K Azibi; M Chaouch; S L Roberds; T Tanaka; S Fujita; T Mitsui
Laminin abnormality in severe childhood autosomal recessive muscular dystrophy.
Laboratory investigation; a journal of technical methods and pathology 1995;72(6):715-22.
1995: Marcello Villanova; Jean-Pierre Louboutin; D Chateau; Bruno Eymard; M Sagniez; Fernando M S Tomé; M Fardeau
X-linked vacuolated myopathy: complement membrane attack complex on surface membrane of injured muscle fibers.
Annals of neurology 1995;37(5):637-45.
1995: Bernard Brais; Ya-Gang Xie; M Sanson; Kenneth Morgan; J Weissenbach; Amos D Korczyn; Sergiu C Blumen; M Fardeau; Fernando M S Tomé; Jean-Pierre Bouchard
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: Steven Roberds; France Leturcq; V Allamand; Federica Piccolo; Marc Jeanpierre; R D Anderson; LE Lim; JC Lee; Fernando M S Tomé; Norma B Romero
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.
Cell 1994;78(4):625-33.
1994: Fernando M S Tomé; K Matsumura; M Chevallay; K P Campbell; M Fardeau
Expression of dystrophin-associated glycoproteins during human fetal muscle development: a preliminary immunocytochemical study.
Neuromuscular disorders : NMD 1994;4(4):343-8.
1994: Fernando M S Tomé; T Evangelista; A Leclerc; Y Sunada; E Manole; Brigitte Estournet; Annie Barois; K P Campbell; M Fardeau
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: K Matsumura; Fernando M S Tomé; H Collin; France Leturcq; Marc Jeanpierre; Jean-Claude Kaplan; M Fardeau; Kevin P Campbell
Expression of dystrophin-associated proteins in dystrophin-positive muscle fibers (revertants) in Duchenne muscular dystrophy.
Neuromuscular disorders : NMD 1994;4(2):115-20.
1994: K Matsumura; A H Burghes; M Mora; Fernando M S Tomé; L Morandi; F Cornello; France Leturcq; Marc Jeanpierre; Jean-Claude Kaplan; P Reinert
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: Norma B Romero; Fernando M S Tomé; France Leturcq; F E el Kerch; K Azibi; L Bachner; R D Anderson; S L Roberds; Kevin P Campbell; M Fardeau
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: Sergiu C Blumen; Puiu Nisipeanu; M Sadeh; A Asherov; Fernando M S Tomé; Amos D Korczyn
Clinical features of oculopharyngeal muscular dystrophy among Bukhara Jews.
Neuromuscular disorders : NMD 1993;3(5-6):575-7.
1993: K Matsumura; Kay Ohlendieck; V V Ionasescu; Fernando M S Tomé; I Nonaka; A H Burghes; M Mora; Jean-Claude Kaplan; M Fardeau; Kevin P Campbell
The role of the dystrophin-glycoprotein complex in the molecular pathogenesis of muscular dystrophies.
Neuromuscular disorders : NMD 1993;3(5-6):533-5.
1993: K Matsumura; Fernando M S Tomé; V Ionasescu; James M Ervasti; R D Anderson; Norma B Romero; D Simon; D Récan; Jean-Claude Kaplan; M Fardeau
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: K Matsumura; I Nonaka; Fernando M S Tomé; K Arahata; H Collin; France Leturcq; D Récan; Jean-Claude Kaplan; M Fardeau; Kevin P Campbell
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: M Fardeau; K Matsumura; Fernando M S Tomé; H Collin; France Leturcq; Jean-Claude Kaplan; Kevin P Campbell
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: A Leclerc; Fernando M S Tomé; M Fardeau
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: K Matsumura; Fernando M S Tomé; H Collin; K Azibi; M Chaouch; Jean-Claude Kaplan; M Fardeau; Kevin P Campbell
Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy.
Nature 1992;359(6393):320-2.
1992: Annie Cartaud; Marie-Aline Ludosky; Fernando M S Tomé; H Collin; F Stetzkowski-Marden; T S Khurana; Louis Kunkel; M Fardeau; Jean-Pierre Changeux; Jean Cartaud
Localization of dystrophin and dystrophin-related protein at the electromotor synapse and neuromuscular junction in Torpedo marmorata.
Neuroscience 1992;48(4):995-1003.
1992: D Récan; P Chafey; France Leturcq; J P Hugnot; N Vincent; Fernando M S Tomé; H Collin; D Simon; Paul Czernichow; L V Nicholson
Are cysteine-rich and COOH-terminal domains of dystrophin critical for sarcolemmal localization?
The Journal of clinical investigation 1992;89(2):712-6.
1991: F Pons; N Augier; J O Léger; A Robert; Fernando M S Tomé; M Fardeau; T Voit; L V Nicholson; Dominique MORNET; Jean J Léger
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: T S Khurana; simon simon watkins; P Chafey; Jamel Chelly; Fernando M S Tomé; M Fardeau; Jean-Claude Kaplan; Louis Kunkel
Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle.
Neuromuscular disorders : NMD 1991;1(3):185-94.
1991: Nadia Soussi-Yanicostas; M Chevallay; Christine Laurent-Winter; Fernando M S Tomé; M Fardeau; Gillian Butler-Browne
Distinct contractile protein profile in congenital myotonic dystrophy and X-linked myotubular myopathy.
Neuromuscular disorders : NMD 1991;1(2):103-11.
1991: Kristian Borg; Fernando M S Tomé; Lars Edström
Intranuclear and cytoplasmic filamentous inclusions in distal myopathy (Welander).
Acta neuropathologica 1991;82(2):102-6.
1990: M Fardeau; Fernando M S Tomé; H Collin; N Augier; F Pons; J Léger; J Léger
[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: Fernando M S Tomé; R Tegnér; M Chevallay
Varicosities in human fetal sciatic nerve fibres.
Neuropathology and applied neurobiology 1988;14(6):495-504.
1988: J J Pernelle; P Chafey; Jamel Chelly; J P Wahrmann; Jean-Claude Kaplan; Fernando M S Tomé; M Fardeau
Nebulin seen in DMD males including one patient with a large DNA deletion encompassing the DMD gene.
Human genetics 1988;78(3):285.
1988: R Tegnér; Fernando M S Tomé; P Godeau; F Lhermitte; M Fardeau
Morphological study of peripheral nerve changes induced by chloroquine treatment.
Acta neuropathologica 1988;75(3):253-60.
1981: Fernando M S Tomé; M Fardeau; P Lebon; M Chevallay
Inclusion body myositis.
Acta neuropathologica. Supplementum 1981;7():287-91.