Neuromuscular Disorders

Disturbances of neuromuscular interaction may contribute to muscle weakness in spinal muscular atrophy
pp. 369-372(4)
Authors: Ghosh S.R.; Baruah P.P.; Greensmith L.; Vrbova G.

Changes of laminin 2 chain expression in congenital muscular dystrophy
pp. 373-378(6)
Authors: Cohn R.D.; Herrmann R.; Wewer U.M.; Voit T.

Oxidative stress as a potential pathogenic mechanism in an animal model of Duchenne muscular dystrophy
pp. 379-386(8)
Authors: Ragusa R.J.; Chow C.K.; Porter J.D.

Association of genetically proven deficiencies of myophosphorylase and AMP deaminase: a second case of 'double trouble'
pp. 387-389(3)
Authors: Rubio J.C.; Martin M.A.; Bautista J.; Campos Y.; Segura D.; Arenas J.

Toxoplasmic polymyositis revisited: case report and review of literature
pp. 390-396(7)
Authors: Cuturic M.; Hayat G.R.; Vogler C.A.; Velasques A.

Congenital myopathies: basic concepts and classification
pp. 426-426(1)
Author: Fardeau M.

Congenital myopathies: clinical aspects and management
pp. 426-426(1)
Author: Dubowitz V.

Immunocytochemical studies in congenital myopathies
pp. 426-427(2)
Author: Sewry C.A.

Nemaline myopathy and the myotubular myopathies
pp. 427-427(1)
Author: Wallgren-Pettersson C.

Genetics of central core disease and its relationship to malignant hyperthermia
pp. 427-427(1)
Author: Mueller C.R.

Congenital myopathies with inclusion bodies
pp. 427-427(1)
Author: Goebel H.H.

Homozygosity for a nonsense mutation in the alpha-tropomyosin gene TPM3 in a patient with severe nemaline myopathy
pp. 427-428(2)
Authors: Tan P.; Briner J.; Boltshauser E.; North K.; Davis M.R.; Wilton S.D.; Wallgren-Pettersson C.; Laing N.G.

Dystrophic central core disease or muscular dystrophy with central cores? A possible new autosomal recessive disorder with central core disease
pp. 428-428(1)
Authors: Manzur A.; Muntoni F.; Sewry C.A.; Ziprin J.; Dubowitz V.

Minicore myopathy: cave noctem!
pp. 428-428(1)
Authors: Goemans N.; Buyse G.; De Boeck K.; Lammens M.; Casaer P.

Intermuscular variation in X-linked myotubular myopathy
pp. 428-428(1)
Authors: Helliwell T.R.; Ellis I.H.; Appleton R.E.

MTM1 gene mutations in Japanese patients with X-linked myotubular myopathy
pp. 428-429(2)
Authors: Nishino I.; Goto Y.-c.; Arahata K.; Nonaka I.

Abnormal expression of integrin a7b1D in merosin deficient congenital muscular dystrophies
pp. 429-429(1)
Authors: Hayashi Y.K.; Goto Y.-i.; Nonaka I.; Arahata K.

Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI
pp. 429-429(1)
Authors: Topaloglu H.; Talim B.; Vignier N.; Helbling-Leclerc A.; Yetuk M.; Akcoren M.Z.; Caglar M.; Kale G.; Guicheney P.

Molecular evidence of clinical heterogeneity in Fukuyama type congenital muscular dystrophy
pp. 429-429(1)
Authors: Saito K.; Kondo-Iida E.; Kawakita Y.; Ikeya K.; Ishihara T.; Toda T.; Osawa M.; Fukuyama Y.

Restrictive cardiomyopathy and congenital myopathy: a new disease due to a defective transition from neonatal to adult myosin?
pp. 429-430(2)
Authors: Toscano A.; Vita G.; Monici M.C.; Calabro M.P.; Foti F.; Rodolico C.; Girlanda P.; Messina C.

Central core and nemaline rods in the same patient
pp. 430-430(1)
Authors: Dioszeghy P.; Pallagi E.; Molnar M.; Molnar P.

Case presentation of a boy with X-linked myotubular myopathy
pp. 430-430(1)
Authors: Lindal S.; Rasmussen I.H.; Lund I.; Lorentzen M.; Hapnes C.; Bomann H.

Congenital cytoplasmic body myopathy with survival motor neuron (SMN) gene deletion or Werdnig-Hoffman disease?
pp. 430-430(1)
Authors: Vajsar J.; Jay V.; Ray P.; Siegel-Bartelt J.

Malignant hyperthermia in a patient with King Denborough syndrome lack of correlation with the RYR gene mutation
pp. 430-430(1)
Authors: Echenne B.; Rivier F.; Roubertie A.; Lunardi J.; Chambaz E.M.

Bilateral foot drop as the first symptom of nemaline myopathy
pp. 431-431(1)
Authors: Hoeksema D.G.; Linssen W.H.J.P.; Smit L.M.E.

A patient with myopathic arthrogryposis multiplex congenita who died of hemorrhagic pulmonary infarction
pp. 431-431(1)
Authors: Ishihara T.; Kawamura J.; Tamura T.; Nishimura T.

Multi minicore disease myopathy: 20 cases
pp. 431-431(1)
Authors: Estournet B.; Barois A.; Bataille J.

Myotubular myopathy in a female
pp. 431-431(1)
Authors: Helliwell T.R.; Appleton R.E.; Ellis I.H.

Congenital muscular dystrophy and cerebellar hypoplasia. An original cerebro-muscular syndrome
pp. 432-432(1)
Authors: Echenne B.; Rivier F.; Tardieu M.; Brive M.; Mornet D.

Autosomal dominant type of congenital muscular dystrophy
pp. 432-432(1)
Authors: Gabreels F.J.M.; Leyten Q.H.; ter Laak H.J.; Renier W.O.; Ceulemans B.; Martin J.J.

X-linked vacuolated myopathy: a new family
pp. 432-432(1)
Authors: Coquet M.; Fontan D.

Protection of extraocular muscle in murine merosin-deficient congenital muscular-dystrophy correlates with normal cation homeostasis
pp. 432-432(1)
Authors: Porter J.D.; Karathanasis P.

Long-term prognosis in congenital muscular dystrophy without mental retardation
pp. 432-433(2)
Authors: Pihko H.; Louhimo T.; Donner M.

Merosin positive congenital muscular dystrophy with mental retardation and cataracts: a new entity in two families
pp. 433-433(1)
Authors: Topaloglu H.; Yetuk M.; Talim B.; Akcoren M.Z.; Caglar M.

Brain involvement in a series of cases with merosin-positive congenital muscular dystrophy
pp. 433-433(1)
Authors: Trevisan C.P.; Martinello F.; Armani M.; Pastorello E.; Piazza A.; Fanin M.; Angelini C.; Tormene A.P.; Lanzi G.; Berardinelli A.; Boffi P.

Feeding problems in merosin-deficient congenital muscular dystrophy
pp. 433-433(1)
Authors: Philpot J.; Bagnall A.; King C.; Goodwin F.; Dubowitz V.; Muntoni F.

Normal visual function in children with pure congenital muscular dystrophy
pp. 433-434(2)
Authors: Mercuri E.; Philpot J.; Atkinson J.; Grueter-Andrew J.; Sewry C.A.; Dubowitz V.; Muntoni F.

Mutations in the LAMA2 gene in patients with muscular dystrophy due to partial merosin deficiency
pp. 434-434(1)
Authors: Naom I.; D'Alessandro M.; Sewry C.A.; Ferlini A.; Topaloglu H.; Dubowitz V.; Muntoni F.

Clinical presentation in merosin-positive congenital muscular dystrophy
pp. 434-434(1)
Authors: Philpot J.; Brockinton M.; Sewry C.A.; Dubowitz V.; Muntoni F.

Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy
pp. 434-434(1)
Authors: Yoshioka M.; Yorifuji T.; Mituyoshi I.

Genetic counseling and molecular analysis of muscular dystrophy families in Israel
pp. 434-434(1)
Authors: Legum C.; Orr-Urtreger A.; Yehuda A.B.; Perek C.; Tsabari S.; Shomrat R.

Dystrophin associated glycoprotein complex in a particular case of Becker muscular dystrophy
pp. 435-435(1)
Authors: Rivier F.; Robert A.; Chaix Y.; Delisle M.B.; Bonet-Kerrache A.; Echenne B.; Mornet D.

Becker muscular dystrophy with predominantly distal myopathy
pp. 435-435(1)
Authors: Phillips M.F.; Quinlivan R.

Exon 25 frameshift deletion associated with intermediate Duchenne/Becker phenotype
pp. 435-435(1)
Authors: Phillips M.F.; Abbs S.; Helliwell T.; Edwards R.H.T.; May J.F.; Harper P.S.; Dunckley M.; Quinlivan R.

A longitudinal study of forced vital capacity in Duchenne muscular dystrophy
pp. 435-435(1)
Authors: Phillips M.F.; Quinlivan R.; Edwards R.H.T.; Calverley P.M.A.

Duplication of dystrophin exon 18 in a DMD patient with mental retardation
pp. 435-436(2)
Authors: Bettecken T.; Jakubiczka S.; Cohn R.D.; von Moers A.; Speer A.; Weber A.; Voit T.; Hubner C.

Pitfalls in prenatal diagnosis of DMD due to confined placental mosaicism of X-chromosomes: prenatal diagnosis and fetopathological findings in a fetus with deletion of exon 68-72 of dystrophin gene
pp. 436-436(1)
Authors: Vondran S.; Wolf C.; Edelmann J.; Strenge S.; Thamm B.; Thiele H.; Froster U.

Caveolin-3 in skeletal muscle fibres of Duchenne muscular dystrophy and mdx mouse
pp. 436-436(1)
Authors: Hagiwara Y.; Nishina Y.; Imamura M.; Yoshida M.; Kikuchi T.; Nonaka I.; Yorifuji H.

Prevalence of Becker muscular dystrophy in south west of France
pp. 436-436(1)
Authors: Ferrer X.; Gaida P.; Hermosilla E.; Fontan D.; Leturcq F.; Recan D.; Coquet M.; Arnaud A.; Lagueny A.; Julien J.

Altered distribution of plectin/HD1 in dystrophinopathies
pp. 436-437(2)
Authors: Schroder R.; Mundegar R.R.; Treusch M.; Blumcke I.; Magi T.M.

Abnormal expression of utrophin in Duchenne and Becker muscular dystrophy is age related
pp. 437-437(1)
Authors: Taylor J.; Muntoni F.; Dubowitz V.; Sewry C.A.

Learning difficulties in Duchenne muscular dystrophy: characterisation and correlation with genetic mutation
pp. 437-437(1)
Authors: Male A.M.; Adolph A.M.; Madigan C.; Berry C.A.; Robb S.A.

Cardiac involvement in Duchenne muscular dystrophy (DMD): usefulness of instrumental non-invasive surveillance
pp. 437-437(1)
Authors: Genuini I.; Santini C.; Dello Russo A.; Pellanda J.; Giglio V.; Sciarra F.; Culla G.; Mangiola F.; Galluzzi G.; Ricci E.

Inspiratory muscle training in patients with Duchenne muscular dystrophy
pp. 437-438(2)
Authors: Wild M.; Lahrmann H.; Wanke T.; Toifl K.; Zifko U.A.

Standardized evaluation of respiratory muscle endurance in children with progressive muscular dystrophy
pp. 438-438(1)
Authors: Matecki S.; Hayot M.; Rivier F.; Ramonatxo M.; Echenne B.; Prefaut C.

Multiple transcripts in the exons 47-53 region of the dystrophin gene: does this influence dystrophin expression in normal and dystrophic tissues?
pp. 438-438(1)
Authors: Ferlini A.; Sewry C.; Dubowitz V.; Muntoni F.

Dystrophinopathy or sarcoglycanopathy: the importance of a full diagnostic assessment in suspected manifesting carriers of Duchenne and Becker muscular dystrophy
pp. 438-438(1)
Authors: Bushby K.; Anderson L.V.B.; Sewry C.A.; Pogue R.; Taylor J.; Pollitt C.; Muntoni F.

Cognitive and psychological profile of a Tunisian population of severe childhood autosomal recessive muscular dystrophy (SCARMD)
pp. 438-439(2)
Authors: Miladi N.; Bourguignon J.P.; Hentati F.

Abnormal expression of -dystroglycan in a patient with limb-girdle muscular dystrophy (LGMD)
pp. 439-439(1)
Authors: Auranen M.; Soinila S.; Somer H.

The clinical and histopathological spectrum of limb girdle syndrome in Egypt
pp. 439-439(1)
Authors: Etribi M.A.; Nonaka I.; Sugita H.; Banoubi M.; Dewidar A.; El-Badawy N.; Ashour S.; Fahmy N.

Known and novel sarcoglycan gene mutations in Portuguese patients
pp. 439-439(1)
Authors: dos Santos M.R.; Vieira E.M.; Ribeiro M.G.; Santos M.M.; Gomes R.; Guimaraes A.

Two sisters with autosomal recessive limb-girdle muscular dystrophy with gamma-sarcoglycanopathy (LGMD2C)
pp. 439-440(2)
Authors: Broere D.; Linssen W.H.J.P.; Smit L.M.E.; Ginjaar H.B.

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy
pp. 440-440(1)
Authors: Ginjaar H.B.; vd Kooi A.; Ceelie H.; Kneppers A.L.J.; Barth P.G.; Busch H.F.M.; Wokke J.H.J.; Kerkhoff H.; Broere D.; Anderson L.V.B.; Bonnemann C.G.; Jeanpierre M.; Bakker E.; de Visser M.; v Ommen G.J.B.

Discordant clinical outcome in patients with limb girdle muscular dystrophy 2C showing the same deletion pattern
pp. 440-440(1)
Authors: Politano L.; Nigro G.; Comi L.I.; Nigro V.

Gamma-sarcoglycan deficiency: specific mutation for the gypsy patients
pp. 440-440(1)
Authors: Colomer J.; Lasa A.; Gallano P.; Guitet M.

Alpha-sarcoglycan analysis of limb-girdle type muscular dystrophy
pp. 440-441(2)
Authors: Ikeya K.; Saito K.; Juan D.; Miyakawa M.; Kawakita Y.; Osawa M.

Heterogeneous clinical spectrum of alpha-sarcoglycanopathies (adhalinopathy) in Saudi Arabian patients
pp. 441-441(1)
Authors: Bohlega S.; Cupler E.; Hessler R.; Dabbagh O.; Chaves E.

Is the del521T mutation in the gamma-sarcoglycan gene a founder mutation in Mediterranean countries?
pp. 441-441(1)
Authors: Leturcq F.; Azibi K.; Piccolo F.; Deburgrave N.; Marin V.; de Toma C.; Chaouch M.; Reghis A.; El Kerch F.; Sefiani A.; Sbiti A.; Kaplan J.-C.; Jeanpierre M.

Genetic and allelic heterogeneity of LGMD in North Africa
pp. 441-441(1)
Authors: Azibi K.; Chaouch M.; Reghis A.; El Kerch F.; Sbiti A.; Sefiani A.; Leturcq F.; Jeanpierre M.; Carrie A.; Piccolo F.; Beldjord C.; Kaplan J.-C.

Clinical and pathological study of 80 patients with muscular dystrophy in Algeria
pp. 441-442(2)
Authors: Terki N.; Masmoudi A.; Chaouch M.; Tazir M.; Ait-Kaci M.; Grid D.

Limb girdle muscular dystrophy with calpain deficiency in Guipuzcoa (Basque country, Spain)
pp. 442-442(1)
Authors: Urtizberea J.A.; Urtasun M.; Richard I.; Saenz A.; Poza J.J.; Cobo A.M.; de Munain A.L.; Beckmann J.S.

Calpain-3 deficiency: a mild muscular dystrophy in childhood: molecular and clinical findings
pp. 442-442(1)
Authors: Dincer P.; Richard I.; Akcoren M.Z.; Urtizberea J.A.; Beckmann J.S.; Topaloglu H.

Immunofluorescence and Western blot analysis on human skeletal muscle using antibodies directed against different regions of the muscle-specific calpain
pp. 442-442(1)
Authors: Romero N.B.; Camoin L.; Federici C.; Richard I.; Fougerousse F.; Guillaume J.L.; Hattab M.; Cheval M.-A.; Tome F.M.S.; Eshdat Y.; Fardeau M.; Beckmann J.; Strosberg A.d.

Some difficulties in defining the time when the first affection of mimic muscles appear in patients with autosomal dominant facioscapulolimb muscular dystrophy, type 2 (FSLD2) (or facioscapuloperoneal)
pp. 443-443(1)
Authors: Kazakov V.; Rudenko D.

MRI to evaluate muscle involvement in patients with autosomal dominant facioscapulolimb muscular dystrophy, type 2 (FSLD2) (or facioscapuloperoneal)
pp. 443-443(1)
Authors: Rudenko D.; Kazakov V.M.; Tutin L.; Shelkoplyas E.

High frequency of epilepsy and mental retardation in early onset 4q35-facioscapulohumeral muscular dystrophy with huge deletion of KpnI repeats
pp. 443-443(1)
Authors: Funakoshi M.; Goto K.; Yonemoto K.; Yoon K.B.; Nonaka I.; Arahata K.

The impact of the molecular data on clinical practice in facio-scapulohumeral muscular dystrophy (FSHD)
pp. 443-444(2)
Authors: Ricci E.; Merico B.; Deidda G.; Galluzzi G.; Silvestri G.; Cacurri S.; Servidei S.; Felicetti L.; Tonali P.

Penetrance of the FSHD mutation differs according to the D4Z4 repeat number
pp. 444-444(1)
Authors: de Toma C.; Chiron S.; Laforet P.; Urtizberea J.A.; Eymard B.; Fardeau M.; Kaplan J.-C.; Jeanpierre M.

Immunocytochemical detection of emerin within the nuclear matrix
pp. 444-444(1)
Authors: Squarzoni S.; Sabatelli P.; Ognibene A.; Toniolo D.; Cartegni L.; Cobianchi F.; Petrini S.; Merlini L.; Maraldi N.M.

Clinical and genetic analyses of Emery-Dreifuss muscular dystrophy and rigid spine syndrome
pp. 444-444(1)
Authors: Kubo S.; Yoon K.B.; Tsukahara T.; Arahata K.

Early onset X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy
pp. 444-445(2)
Authors: Sewry C.A.; Lichtarowicz-Krynska E.J.; Manilal S.B.; Recan D.; Taylor J.; Llense S.; Kaplan J.-C.; Dubowitz V.; Morris G.E.; Muntoni F.

X-linked Emery-Dreifuss muscular dystrophy: molecular diagnosis by protein analysis and use of the skin biopsy in female carriers
pp. 445-445(1)
Authors: Colomer J.; Pradas J.; Guitet M.; Vila J.; Corbera J.; Manilal S.; Morris G.E.

An early-onset autosomal recessive muscular dystrophy with distal wasting and rigidity of the spine
pp. 445-445(1)
Authors: Muntoni F.; Taylor J.; Dubowitz V.; Sewry C.A.

A family with severe pseudo-dominant Emery-Dreifuss muscular dystrophy due to emerin deficiency
pp. 445-445(1)
Authors: Recan D.; Llense S.; Barbot J.-C.; Leturcq F.; Deburgrave N.; Dupont J.-M.; Warrot P.; Giraudet C.; Fraisse F.; Amsallem D.; Bensaid J.; Urtizberea J.A.; Morris G.E.; Kaplan J.-C.

Comparison of three functional assessment scales in neuromuscular diseases
pp. 445-446(2)
Authors: Karaduman A.; Akgol C.; Tunca O.; Aras O.; Yakut Y.; Topaloglu H.

Myopathy/rhabdomyolysis in patients after heart transplantation by presurgical treatment with lipid-lowering drugs? Interaction of cyclosporine and HMG-CoA reductase inhibitor therapy?
pp. 446-446(1)
Authors: Ketelsen U.P.; Trenk D.; Eschenbruch E.M.; Tollenaere P.J.

A survey of neuromuscular disorders in children in western Sweden
pp. 446-446(1)
Authors: Tulinius M.; Kroksmark A.-K.; Darin N.

Critical illness myopathy unrelated to corticosteroids or neuromuscular blocking agents: myopathy-myosin-critical illness
pp. 446-447(2)
Authors: Deconinck N.; Van Parijs V.; Laterre P.F.; Reynaert M.; Vormezeele R.; Van den Bergh P.

Critical illness myopathy: a clinical, electrophysiological and pathological study of ten cases
pp. 447-447(1)
Authors: Navarro C.; Teijeira S.; Fernandez J.M.; Gamez J.; Palomar M.; Cervera C.

Involvement of human DNase II-like gene in the pathogenesis of an X-linked cardiomyopathy and autophagic vacuolar myopathy
pp. 447-447(1)
Authors: Biunno I.; Marina M.; Mirabella M.; Servidei S.

Etiopathogenic factors of bladder dysfunctions in the neuromuscular diseases
pp. 447-447(1)
Authors: Viet G.L.; Donze C.; Delattre S.; Thevenon A.

Therapeutic effects of tocainide and mexiletine analogs on myotonic MTO and ADR mice
pp. 447-447(1)
Authors: De Luca A.; Natuzzi F.; Falcone G.; Pierno S.; Lentini G.; Duranti A.; Franchini C.; Tortorella V.; Camerino D.C.

Determining physical fitness levels of children with neuromuscular dyseases
pp. 447-448(2)
Authors: Karaduman A.; Karakaya M.; Bayrakci V.; Bayar K.; Tunca O.; Aras O.; Topaloglu H.

Effect of vitamin B₆ in McArdle's disease: a strategic case study
pp. 448-448(1)
Authors: Phoenix J.; Hopkins P.; Bartram C.; Beynon R.J.; Quinlivan R.C.M.; Edwards R.H.T.

The three faces of lysosomal glycogen storage
pp. 448-448(1)
Authors: Mellor D.H.; Sullivan C.; Ramesh V.; Martland T.

Andersen's syndrome with absent tubular aggregates in muscle biopsy
pp. 448-448(1)
Authors: Al-Jumah M.; Cwik V.; Johnston E.

Vitamin B₆ supplementation in McArdle's disease: a randomised, double-blind crossover trial
pp. 448-449(2)
Authors: Phoenix J.; Hopkins P.; Bartram C.; Beynon R.J.; Quinlivan R.C.M.; Edwards R.H.T.

Effects of chronic administration of minoxidil and acetazolamide on an animal model of hypokalemic periodic paralysis (HOPP)
pp. 449-449(1)
Authors: Tricarico D.; Barbieri M.; Mallamaci R.; Capriulo R.; Camerino D.C.

Clinical and morphological study of a family with a lipid storage myopathy
pp. 449-449(1)
Authors: Triki C.; Meziou M.; Samet S.; Chehida A.B.; Jlidi R.; Mhiri C.

31P-NMR spectroscopy in muscle phosphofructokinase deficiency
pp. 449-449(1)
Authors: Grehl T.; Vorgerd M.; Tegenthoff M.; Malin J.-P.; Zange J.

Primary AMP deaminase deficiency in childhood
pp. 449-450(2)
Authors: Bruno C.; Minetti C.; Shanske S.; Bado M.; Cordone G.; DiMauro S.

Abnormal muscle energy metabolism in chronic fatigue syndrome patients: evidence from muscle histometry, spectroscopy and in vitro mitochondrial function studies
pp. 450-450(1)
Authors: Lane R.J.M.; Barrett M.C.; Taylor D.M.; Cooper J.; Schapira A.H.

Cytochrome c oxidase deficiency linked to a new stop codon point mutation in mitochondrial DNA
pp. 450-450(1)
Authors: Hanna M.G.; Nelson I.P.; Rahman S.; Schapira A.H.V.; Cooper J.M.; Morgan-Hughes J.A.; Wood N.W.

Threshold expression of the tRNA^lys A8344G mutation in single muscle fibres
pp. 450-450(1)
Authors: Moslemi A.-R.; Tulinius M.; Holme E.; Oldfors A.

Mitochondrial dysfunction with MERRF point-mutation in nerve and muscle tissue of a patient with multiple symmetric lipomatosis
pp. 450-450(1)
Authors: Reichmann H.; Naumann M.; Kiefer R.; Seibel P.; Toyka K.

Decreased cerebrovascular reserve capacity in patients with various types of mitochondrial disorders
pp. 450-451(2)
Authors: Molnar M.; Valikovics A.; Dioszeghy P.; Bereczki D.; Mechler F.; Csiba L.

Peripheral neuropathy associated with mitochondrial myopathy
pp. 451-451(1)
Authors: Chu C.-C.; Huang C.-C.; Wei Y.-H.

Mitochondrial myopathy with demyelination polyneuropathy
pp. 451-451(1)
Authors: Gouider-Khouja N.; Dabbeche M.; Turki I.; Oueslati S.; Miladi N.; Hamida M.B.; Hentati F.

Thymomagenic myasthenia and demyelinization - immunodepended continuum
pp. 451-451(1)
Authors: Shakarishvili R.R.; Kvirkvelia N.B.; Kankava D.M.

Oral muscle functions in patients with myasthenia gravis
pp. 451-452(2)
Authors: Weijnen F.G.; van der Bilt A.; van der Glas H.W.; Bosman F.; Wokke J.H.J.

Thymoma associated with myasthenia gravis in a 12 year old girl
pp. 452-452(1)
Authors: Goemans N.; Potgieter S.; Lagae L.; Casaer P.

Myasthenia in children: 38 cases
pp. 452-452(1)
Authors: Estournet-Mathiaud B.; Barois A.; Viollet L.

Congenital myasthenic syndromes
pp. 452-452(1)
Authors: Gouider-Khouja N.; Turki I.; Oueslati S.; Miladi N.; Hamida M.B.; Hentati F.

Electron transport chain activities in dermatomyotitis
pp. 452-453(2)
Authors: Casademont J.; Miro O.; Grau J.M.; Cardellach F.

Antimyosin scintigraphy compared with MRI in inflammatory myopathies
pp. 453-453(1)
Authors: Lofberg M.; Liewendahl K.; Lamminen A.; Somer H.

Dermatomyositis and Whipple's disease
pp. 453-453(1)
Authors: Helliwell T.R.; Mapstone N.; Appleton R.E.

Respiratory muscle involvement in dermatomyositis
pp. 453-453(1)
Authors: Lahrmann H.; Grisold W.; Zjfko U.

New species of muspiceoid nematode causes polymyositis
pp. 453-454(2)
Authors: Dennett X.; Siejka S.; Andrews J.; Beveridge I.; Spratt D.

Absence of characteristic histopathology in two patients with inclusion body myositis
pp. 454-454(1)
Authors: Hoogendijk J.E.; van der Meulen M.F.G.; Jansen G.H.; Veldman H.; Wokke J.H.J.

Progressive swelling and stiffness of the extremities: another case of eosinophilic fasciitis
pp. 454-454(1)
Authors: Broere D.; vd Bosch J.; Hellemans H.P.R.; Vasmel W.L.E.; Linssen W.H.J.P.

Incidence of CMTIA in a pediatric neuromuscular clinic
pp. 454-454(1)
Authors: Escobar R.G.; Iannaccone S.T.

CMT with vocal cord paralysis, type 2C
pp. 454-455(2)
Authors: Iannaccone S.T.; Nations S.P.; Bryan W.W.; Wolfe G.I.; Barohn R.J.

Quadruple A syndrome in two adolescents
pp. 455-455(1)
Authors: Iannaccone S.T.; Mills J.; Baker N.

Charcot-Marie-Tooth disease type 1 and 2: analysis of sensory dysfunction with quantitative determination of somatosensory thresholds
pp. 455-455(1)
Authors: Ericson U.B.; Borg K.

Use of posterior tibial tendon transfer anteriorly through the interosseous membrane in the treatment of foot & ankle deformities for the young Charcot-Marie-Tooth patient
pp. 455-455(1)
Author: Hsu J.D.

Clinical, electrophysiological and histological analysis in 4 patients with hereditary sensory neuropathy and pyramidal syndrome
pp. 455-456(2)
Authors: Zouari M.; Turki I.; Belal S.; Hamida C.B.; Hamida M.B.; Hentati F.

Hereditary sensory neuropathy associated with muscular atrophy affecting 7 members of one kindred
pp. 456-456(1)
Authors: Zouari M.; Hamida C.B.; Belal S.; Turki I.; Hamida M.B.; Hentati F.

Polyneuropathy in 8 glue-sniffers
pp. 456-456(1)
Authors: Turki I.; Nefissa O.B.; Kechrid F.; Gouider-Khouja N.; Belal S.; Hentati F.; Hamida M.B.

Proximal conduction block studies and response to intravenous immunoglobulin therapy in multifocal motor neuropathy
pp. 456-456(1)
Authors: Jaspert A.; Grehl H.; Claus D.; Neundorfer B.

Differential diagnosis of ataxic syndromes in childhood: a five years experience of the Child Neurology and Psychiatry Service in Reggio Emilia
pp. 456-456(1)
Authors: Pini A.; Bertani G.; Gobbi G.

Molecular genetic analysis helps in diagnostics of autosomal dominant cerebellar ataxias
pp. 457-457(1)
Authors: Ovtchinnikova O.; Druzina E.; Illarioshkin S.; Markova E.; Ivanova-Smolenskaya I.

Repeat expansion and phenotypic variability of Friedreich's ataxia in families of different ethnic origin from European-Asian region
pp. 457-457(1)
Authors: Ovchinnikov I.; Illarioshkin S.; Bagyeva G.; Miklina N.; Ivanova-Smolenskaya I.

Clinical and genetic study of a case with hereditary vitamin e deficiency
pp. 457-457(1)
Authors: Martinello F.; Fardin P.; Ottina M.; Cavalier L.; Koenig M.; Trevisan C.P.

A family with isolated vitamin E deficiency and Friedreich ataxia phenotype not linked to chromosome 8q
pp. 457-457(1)
Authors: Shorer Z.; Parvari R.; Brill G.; Sella B.-A.; Moses S.

Overview of distal myopathies: from the clinical to the molecular
pp. 457-458(2)
Author: Griggs R.C.

Welander distal myopathy: clinical, pathophysiological and molecular aspects
pp. 458-458(1)
Authors: Borg; &unknown;9hlberg G.; Anvret M.; Edstrom L.

Tibial muscular dystrophy
pp. 458-458(1)
Authors: Somer H.; Udd B.; Paetau A.; Kalimo H.

Physical mapping of the Miyoshi myopathy/LGMD2B locus on chromosome 2p13
pp. 458-458(1)
Authors: Liu J.; Wu C.Y.; Bossie K.; Bejaoui K.; Hosler B.A.; Schurr E.; de Jong P.; Brown R.H.

Distal myopathy with rimmed vacuole formation (DMRV)
pp. 458-459(2)
Authors: Nonaka I.; Murakami N.; Kawai M.

Bethlem myopathy, a type VI collagen disorder
pp. 459-459(1)
Authors: de Visser M.; Jobsis G.J.; Keizers H.; Vreijling J.P.; Wolterman R.A.; Barth P.G.; Boers J.M.; Baas F.; Bolhuis P.A.

Immunohistochemistry and ultrastructure of rimmed vacuolar fibers in tibial muscular dystrophy
pp. 459-459(1)
Authors: Udd B.; Somer H.; Paetau A.; Kalimo H.

Linkage in tibial muscular dystrophy (TMD) on chromosome 2q31-33
pp. 459-459(1)
Authors: Haravuori H.; Makela-Bengsl P.; Udd B.; Pulkkinen L.; Partanen J.; Somer H.; Peltonen L.

Refinement of the linkage region of the distal myopathy MPD1 and exclusion of candidate genes
pp. 460-460(1)
Authors: Binz N.; Nowak K.; Butler A.; Meredith C.; Laing N.G.

Early onset autosomal dominant myopathy with external ophthalmoplegia and rimmed vacuoles in muscle fibers
pp. 460-460(1)
Authors: Darin N.; Kyllerman M.; Wahlstrom J.; Martinsson T.; Oldfors A.

LGMD 2E in Tunisia is caused by a missense mutation Arg91Leu in -sarcoglycan
pp. 460-460(1)
Authors: Bonnemann C.; Wong J.; Hamida C.B.; Hamida M.B.; Hentati F.; Kunkel L.

Mechanism of the 4q35 rearrangement in facio-scapulo-humeral muscular dystrophy (FSHD): sequence homology of 4qter and 10qter loci favors the instability of subtelomeric KpnI repeats
pp. 460-461(2)
Authors: Felicetti L.; Deidda G.; Ricci E.; Galluzzi G.; Cacurri S.; Merico B.; Servidei S.; Colantoni L.; Tonali P.

Autosomal dominant late adult onset distal myopathy
pp. 461-461(1)
Authors: Penisson-Besnier I.; Dumez C.; Chateau D.; Dubas F.; Fardeau M.

Progression of muscle involvement in Miyoshi myopathy by CT and MRI muscle imaging
pp. 461-461(1)
Authors: Meola G.; Sansone V.; Rotondo G.; Sterlicchio M.; Jabbour A.

Distal myopathy of Miyoshi type: report of 21 French cases
pp. 461-461(1)
Authors: Eymard B.; Laforet P.; Tome F.M.S.; Collin H.; Leroy J.P.; Hauw J.J.; Fardeau M.

Miyoshi myopathy in Saudi Arabia
pp. 461-462(2)
Authors: Cupler E.J.; Bohlega S.; Hessler R.; Stigsby B.; McLean D.

Distal myopathy and limb-girdle muscular dystrophy in the same family: one gene for different phenotypes?
pp. 462-462(1)
Authors: Angelini C.; Fanin M.; Menegazzo E.

Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration
pp. 462-462(1)
Authors: Kuntzer T.; Lobrinus A.; Janzer R.C.; Matthieu J.-M.

Miyoshi-type distal muscular dystrophy: clinical features of 24 Dutch patients
pp. 462-462(1)
Authors: Linssen W.H.J.P.; De Visser M.; Notermans N.C.; Wokke J.H.J.; Van Doorn P.A.; Howeler C.J.; De Jager A.E.J.

Distal myopathy of Miyoshi and Nonaka types: a clinical, pathological and quantitative EMG study of 7 cases
pp. 462-463(2)
Authors: Fernandez J.M.; Gamez J.; Cervera C.; Cortes J.A.; Branas F.; Teijeiro A.; Fernandez R.; Teijeira S.; Navarro C.

Welander hereditary distal myopathy, a comparison to hereditary IBM (inclusion body myositis) and autosomal recessive distal myopathy with regard to molecular genetics
pp. 463-463(1)
Authors: &unknown;9hlberg G.; Borg K.; Edstrom L.; Anvret M.

Autosomal recessive oculopharyngodistal myopathy in a Japanese family: investigations in light of distal myopathy with rimmed vacuoles and OPMD
pp. 463-463(1)
Authors: Uyama E.; Tokunaga M.; Chateau D.; Tome F.M.S.; Brais B.; Uchino M.

A novel type of autosomal dominant myopathy with rimmed vacuoles
pp. 463-463(1)
Authors: Borg K.; Arnardottir S.; Melberg A.; Henriksson K.-G.; Stalberg E.; Oldfors A.; Ansved T.

Epidemiology of inclusion body myositis in the Netherlands
pp. 463-464(2)
Authors: Badrising U.A.; Maat-Schieman M.; van Duinen S.G.; van Doorn P.; van Engelen B.; van den Hoogen F.; Hoogendijk J.E.; Howeler C.J.; De Jager A.E.J.; Jennekens F.G.I.; Koehler P.; van der Leeuw H.; de Visser M.; Verschuuren J.J.; Wintzen A.R.

The onset and distribution of muscle weakness in inclusion body myositis (IBM)
pp. 464-464(1)
Authors: Badrising U.A.; Maat-Schieman M.; van Duinen S.G.; van Doorn P.; van Engelen B.; van den Hoogen F.; Hoogendijk J.E.; Howeler C.J.; De Jager A.E.J.; Jennekens F.G.I.; Koehler P.; van der Leeuw H.; de Visser M.; Verschuuren J.J.; Wintzen A.R.

Hereditary myopathy with rimmed vacuoles: report of two unusual pedigrees
pp. 464-464(1)
Authors: Schaeffer S.; Presles O.; Hamel M.; Caron A.; Berthelin C.; Chapon F.

rp-HPLC fractionation of muscle proteins as an initial step for the identification of autoantigens in inclusion body myositis (IBM)
pp. 464-464(1)
Authors: Verschuuren J.J.; Geleijns C.P.W.; van Noort J.M.; de Heer E.; van Duinen S.G.; Hintzen R.Q.; Badrising U.A.; Wintzen A.R.

Clinical and genetic aspects of autosomal recessive CMT
pp. 464-465(2)
Authors: Othmane K.B.; Rochelle J.M.; Johnson E.; Hamida M.B.; Pericak-Vance M.A.; Hentati F.; Vance J.M.

Autosomal recessive forms of hereditary motor and sensory neuropathies (HMSN)
pp. 465-465(1)
Author: Gabreels-Festen A.A.W.M.

Genetics of dominant ataxias
pp. 465-465(1)
Author: Brice A.

Friedreich ataxia: clinical and genetic aspects
pp. 465-465(1)
Author: Pandolfo M.

The frataxin story
pp. 466-466(1)
Authors: Campuzano V.; Koutnikova H.; Foury F.; Cossee M.; Cazzalini O.; Koenig M.

Friedreich's ataxia phenotype with vitamin E deficiency (FAVED): an overview
pp. 466-466(1)
Author: Hentati F.

Clinical, electrophysiological and neuropathological findings in an autosomal dominant CMTIC family
pp. 466-466(1)
Authors: De Jonghe P.; Nelis E.; Lofgren A.; De Vriendt E.; Timmerman V.; Ceuterick C.; Martin J.-J.; Van Broeckhoven C.

Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33
pp. 466-467(2)
Authors: LeGuern E.; Guilbot A.; Kessali M.; Ravise N.; Tassin J.; Maisonobe T.; Grid D.; Brice A.

Hereditary motor and sensory neuropathy-Lom (HMSNL) in an Italian gypsy family
pp. 467-467(1)
Authors: Trogu A.; Zanetti M.; Bergonzoni C.; Stilli S.; Villanova M.; Sabatelli P.; Yanakiev P.; Kalaydjieva L.; Merlini L.

Giant axonal neuropathy: clinical study and genetic mapping
pp. 467-467(1)
Authors: Hamida C.B.; Cavalier L.; Belal S.; Sanhaji H.; Nadal N.; Barhoumi C.; Mrissa N.; Maarzouki N.; Mandel J.-L.; Hamida M.B.; Koenig M.; Hentati F.

Cloning of the gene for autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7) reveals a highly unstable CAG repeat expansion
pp. 467-467(1)
Authors: David G.; Abbas N.; Stevanin G.; Durr A.; Yvert G.; Cancel G.; Weber C.; Imbert G.; Saudou F.; Antoniou E.; Drabkin H.; Gemmill R.; Giunti P.; Benomar A.; Wood N.; Ruberg M.; Agid Y.; Mandel J.-L.; Brice A.

Expression and mitochondrial localisation of frataxin, the Friedreich's ataxia gene product
pp. 467-468(2)
Authors: Cavadini P.; DiBlasi C.; Baratta S.; DiDonato S.; Mora M.; Taroni F.

Complicated form of autosomal recessive hereditary spastic paraplegia is also linked to chromosome 8p: further evidence of genetic heterogeneity
pp. 468-468(1)
Authors: Erdem H.; Topaloglu H.; Akarsu A.N.; Topcu M.; Gucuyener K.; Ozguc M.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
pp. 468-468(1)
Authors: Bouchard J.-P.; Mathieu J.; Richter A.; Hudson T.J.; Morgan K.; Melancon S.B.

Clinical and genetical aspects of autosomal dominant cerebellar ataxia in Morocco (about 16 families)
pp. 468-468(1)
Authors: Benomar A.; Yahyaoui M.; Meggouh P.; Bouslam N.; Bouhouche A.; Chkili T.

Neuropathology of infantile onset spinocerebellar ataxia
pp. 468-469(2)
Authors: Lonnqvist T.; Pihko H.; Paetau A.

Phenotype-genotype correlations in SCA1, SCA2, SCA3/MJD and SCA6
pp. 469-469(1)
Authors: Durr A.; Stevanin G.; Cancel G.; Didierjean O.; Brice A.

Spinocerebellar ataxias: analysis of CAG expansions at SCA1, SCA 2, SCA 3, and SCA 6 loci in Italian families
pp. 469-469(1)
Authors: Nardacchione A.; Dragone E.; Orsi L.; Mortara P.; Franco A.; Pavanelli E.; Grosso E.; Matullo G.; Carbonara A.; Restagno G.

Anatomical localisation of frataxin mRNA and protein: in situ hybridization and immunocytochemical analysis
pp. 469-469(1)
Authors: Princivalle A.; Cavadini P.; Giavazzi A.; Taroni F.; Battaglia G.

Ataxia with vitamin E deficiency and Friedreich ataxia: comparative analysis of vitamin A, vitamin E and some lipid parameters in patients and not-affected family members
pp. 469-470(2)
Authors: Feki M.; Belal S.; Khiari D.; Zouari M.; Kaabachi N.; Hamida C.B.; Hamida M.B.; Mebazaa A.; Hentati F.

The axonal form of autosomal recessive Charcot-Marie-Tooth (CMT) disease: a phenotype study of 4 Moroccan families
pp. 470-470(1)
Authors: Birouk N.; Belaidi H.; Benomar A.; Bouhouche A.; Kably B.; Ouazzani R.; Yahyaoui M.; Le Guern E.; Chkili T.

Linkage to the myelin protein zero locus in a family with intermediate HMSN
pp. 470-470(1)
Authors: Stell R.; Mastaglia F.L.; Phillips B.; Fabian V.; Edmondston J.E.; Hallmayer J.; Laing N.G.

Familial amyloidotic polyneuropathy: evidence of a novel upstream promoter driving the gene expression in liver and cerebellum from patients and controls
pp. 470-470(1)
Authors: Ferlini A.; Obici L.

Expression of peripheral myelin protein-22 (PMP22)-mRNA in hereditary motor and sensory neuropathy type 1 (HMSN 1)
pp. 470-471(2)
Authors: Grehl H.; Liehr T.; Neundorfer B.; Rautenstrausz B.

Co-segregation of mild dysmorphic features and hereditary neuralgic amyotrophy (HNA) in two 17q24-q25 HNA families?
pp. 471-471(1)
Authors: Wehnert M.; Hoeltzenbein M.; Meuleman J.; Kuhlenbaumer G.; Timmerman V.; Van Broeckhoven C.

Analysis of the crossover breakpoints in 24 CMT1A and 3 HNPP de novo patients
pp. 471-471(1)
Authors: Lopes J.; Ravise N.; Latour P.; Tardieu S.; Vandenberghe A.; Ionasescu V.; Brice A.; Le Guern E.

Gln15 missense mutation in the connexin 32 gene in a CMTX Italian family
pp. 471-471(1)
Authors: Gobbi P.; Bell C.; Sorgato P.; Conigli P.; Colombo A.; Haites N.; Ferlini A.

Recessive sensory and motor hereditary neuropathy associated with juvenile glaucoma
pp. 471-472(2)
Authors: Gouider R.; Dogui T.; Fredj M.; Leguern E.; Ammou S.B.; Mrabet A.

A family presenting with electrophysiological 'CMT type II' and linked to Po gene
pp. 472-472(1)
Authors: Chapon F.; Lechevalier B.; Schaeffer S.; Hamel M.; Diraison P.; Latour P.; Vandenberghe A.

The phenotypes of autosomal recessive HSMN linked to chromosomes 5q and 11q
pp. 472-472(1)
Authors: Salih M.A.; Kessali M.; Hammadouche T.; Kabira M.; Tahan A.; Al Reyes M.; Maisonobe T.; Le Guern E.; Urtizberea J.A.; Grid D.

Charcot-Marie-Tooth disease type 1 and 2: muscle biopsy findings in distal and proximal muscles
pp. 472-472(1)
Authors: Ericson U.; Ansved T.; Borg K.

Linkage mapping of hereditary motor and sensory neuropathy with spastic paraplegia (HMSN V): preliminary results
pp. 472-472(1)
Authors: Mostacciuolo M.L.; Rampoldi L.; Schiavon F.; Righetti E.; Angelini C.

Congenital insensitivity to pain with anhydrosis
pp. 473-473(1)
Authors: Vital A.; Fontan D.; Julien J.; Vital C.

The endoneurial inflammatory reaction in 31 patients with onion-bulb formations
pp. 473-473(1)
Authors: Vital C.; Vital A.; Rajabally Y.; Lagueny A.; Fontan D.; Latour P.; Barat M.; Henry P.; Arnaud A.; Vandenberghe A.; Julien J.

Muscle CT scans in neuromuscular diseases: a follow-up study
pp. 473-473(1)
Authors: Marconi G.; Pizzi A.; Mahjneh I.

Congenital autosomal dominant distal spinal muscular atrophy
pp. 473-474(2)
Authors: Adams C.; Suchowersky O.; Lowry B.

Macro-EMG in carriers of Duchenne muscular dystrophy
pp. 474-474(1)
Authors: Szmidt-Salkowska E.; Rowinska-Marcinska K.; Hausmanowa-Petrusewicz I.

Study of muscle regeneration in muscular dystrophies
pp. 474-474(1)
Authors: Mechler F.; Molnar J.M.

Persistent motor neuron discharges of central origin aggravated by alcohol
pp. 474-474(1)
Authors: Al-Jumah M.; Elleker G.; Brookes H.

Congenital club foot with survival motor neuron gene deletion
pp. 474-474(1)
Authors: Echenne B.; Rivier F.; Roubertie A.; Humbertclaude V.

Dystrophinopathy in a boy with Chidiak-Higashi syndrome
pp. 474-475(2)
Authors: von Moers A.; Van Landeghem F.; Kiehntopf A.; Baumgarten E.; Cohn R.D.; Bvrger J.; Stoltenburg-Didinger G.

Expression of the myogenic regulatory factors and the sarcoplasmic/endoplasmic reticulum Ca²⁺ ATPases in regenerating fast and slow muscles of the rat
pp. 475-475(1)
Authors: Zador E.; Mendler L.; Szakonyi G.; Racz G.; Gorbe A.; Wuytack F.; Dux L.

Electromyoneurographycal abnormalities and DNA analyses in Croatian children with proximal spinal muscular atrophies (SMA)
pp. 475-475(1)
Authors: Barisic N.; Billi C.; Sertic J.; Baric I.; Sarnavka V.; Malcic I.; Cvitanovic M.; Begovic D.; Florentin L.

Mutations of the glutamate transporter gene EAAT2 do not cause the abnormal EAAT2 transcripts in patients with amyotrophic lateral sclerosis
pp. 475-475(1)
Authors: Aoki M.; Rothstein J.D.; Lin C.-L.G.; Geller B.A.; Hosler B.A.; Munsat T.L.; Horvitz H.R.; Brown R.H.