| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Abdominal fat aspirative biopsy — diagnostic value in familial amyloidotic polyneuropathy, Portuguese type
|
Carvalho, F.
|
|
1996
|
6 |
Supplement 1 |
p. S55-
1 p.
|
artikel
|
| 2 |
Assessment of autonomic dysfunction in familial amyloidotic polyneuropathy: A challenge
|
Fonseca, C.
|
|
1996
|
6 |
Supplement 1 |
p. S48-
1 p.
|
artikel
|
| 3 |
Autosomal dominant muscular dystrophy with rimmed vacuoles: a nosological entity?
|
Servidei, S.
|
|
1996
|
6 |
Supplement 1 |
p. S10-
1 p.
|
artikel
|
| 4 |
Bailliere's clinical neurology: Cerebrovascular disease
|
Venables, Graham
|
|
1996
|
6 |
Supplement 1 |
p. 224-
1 p.
|
artikel
|
| 5 |
Changes in variant transthyretin levels in patients with familial amyloidotic polyneuropathy (FAP) type i following liver transplantan
|
Ando, Yukio
|
|
1996
|
6 |
Supplement 1 |
p. S85-
1 p.
|
artikel
|
| 6 |
Coexistence of type i familial amyloid polyneuropathy and spinocerebellar ataxia type i. Pathological study and gene analysis of a Japanese family
|
Ikeda, Shu-ichi
|
|
1996
|
6 |
Supplement 1 |
p. S40-
1 p.
|
artikel
|
| 7 |
Correlation between autonomic abnormalities in familial amyloidotic polineuropathy (FAP) — Portuguese type
|
Alves, M.
|
|
1996
|
6 |
Supplement 1 |
p. S47-
1 p.
|
artikel
|
| 8 |
Deficiency of a skeletal muscle isoform of α-actinin (α-actinin-3) in merosin-positive congenital muscular dystrophy
|
North, Kathryn N.
|
|
1996
|
6 |
Supplement 1 |
p. 229-235
7 p.
|
artikel
|
| 9 |
Development of lines of transgenic mice expressing the human transthyretin Ser84 variant
|
Waits, R.P.
|
|
1996
|
6 |
Supplement 1 |
p. S31-
1 p.
|
artikel
|
| 10 |
Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern
|
Capon, F.
|
|
1996
|
6 |
Supplement 1 |
p. 261-264
4 p.
|
artikel
|
| 11 |
DNA fragmentation and BCL-2 expression in infantile spinal muscular atrophy
|
Tews, D.S.
|
|
1996
|
6 |
Supplement 1 |
p. 265-273
9 p.
|
artikel
|
| 12 |
Evaluation of liver transplantation in familial amyloid polyneuropathy
|
Adams, D.
|
|
1996
|
6 |
Supplement 1 |
p. S76-
1 p.
|
artikel
|
| 13 |
Ex vivo gene therapy for myopathies: how to get enough myogenic cells?
|
Salvatori, G.
|
|
1996
|
6 |
Supplement 1 |
p. S23-
1 p.
|
artikel
|
| 14 |
Genetic heterogeneity of oculopharyngeal muscular dystrophy (OPMD)
|
Müller, C.R.
|
|
1996
|
6 |
Supplement 1 |
p. S30-
1 p.
|
artikel
|
| 15 |
Genotype-phenotype relationships in myotonic dystrophy
|
Pizzuti, Antonio
|
|
1996
|
6 |
Supplement 1 |
p. S18-
1 p.
|
artikel
|
| 16 |
Genotype-phen type correlation and prognostic assessment in 463 patients with myotonic dystrophy
|
Gennarelli, M.
|
|
1996
|
6 |
Supplement 1 |
p. S19-
1 p.
|
artikel
|
| 17 |
Handbook of botulinum toxin treatment
|
Cull, Roger E.
|
|
1996
|
6 |
Supplement 1 |
p. 140-
1 p.
|
artikel
|
| 18 |
HTLV-1 polymyositis
|
Caldwell, C.J.
|
|
1996
|
6 |
Supplement 1 |
p. 151-154
4 p.
|
artikel
|
| 19 |
Hypokalemic periodic paralysis mutations: Confirmation of mutation and analysis of founder effect
|
Grosson, Christie L.S.
|
|
1996
|
6 |
Supplement 1 |
p. 27-31
5 p.
|
artikel
|
| 20 |
Hypoosmotic shocks induce elevation of resting calcium level in duchenne muscular dystrophy myotubes contracting in vitro
|
Imbert, Nathalie
|
|
1996
|
6 |
Supplement 1 |
p. 351-360
10 p.
|
artikel
|
| 21 |
Immunolocalization of 70 KD heat shock protein in inflammatory and non inflammatory myopathies
|
Volpi, N.
|
|
1996
|
6 |
Supplement 1 |
p. S26-
1 p.
|
artikel
|
| 22 |
Impact of gastrointestinal dysfunction on survival after liver transplantation in familial amyloidotic polyneuropathy
|
Suhr, Ole
|
|
1996
|
6 |
Supplement 1 |
p. S68-
1 p.
|
artikel
|
| 23 |
Key word index
|
|
|
1996
|
6 |
Supplement 1 |
p. XXIX-XXX
nvt p.
|
artikel
|
| 24 |
Limb-girdle muscular dystrophy 2C: Clinical aspects
|
Ben Hamida, M.
|
|
1996
|
6 |
Supplement 1 |
p. 493-494
2 p.
|
artikel
|
| 25 |
Liver transplantation for two Japanese patients with familial amyloidotic polyneuropathy with Ile 50 TTR mutation and Met 30 TTR mutation
|
Ikegawa, Shinichi
|
|
1996
|
6 |
Supplement 1 |
p. S83-
1 p.
|
artikel
|
| 26 |
Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities
|
Mora, Marina
|
|
1996
|
6 |
Supplement 1 |
p. 377-381
5 p.
|
artikel
|
| 27 |
Molecular mechanism of DNA rearrangements implicated in FSH dystrophy and applications to the diagnosis of the disease
|
Cacurri, S.
|
|
1996
|
6 |
Supplement 1 |
p. S14-
1 p.
|
artikel
|
| 28 |
Molecular scanning for point mutations in DMD/BMD
|
Ferrari, M.
|
|
1996
|
6 |
Supplement 1 |
p. S11-
1 p.
|
artikel
|
| 29 |
Most cases of familial amyloidotic polyneuropathy (FAP) are associated with amino acid substitutions destabilizing the folded state of transthyretin monomers
|
Altland, K.
|
|
1996
|
6 |
Supplement 1 |
p. S17-
1 p.
|
artikel
|
| 30 |
Multifrequency bioelectric impedance measurements for predicting body water compartments in duchenne muscular dystrophy
|
Bedogni, Giorgio
|
|
1996
|
6 |
Supplement 1 |
p. 55-60
6 p.
|
artikel
|
| 31 |
Muscle CT in peripheral neuropathies
|
Marconi, G.
|
|
1996
|
6 |
Supplement 1 |
p. S22-
1 p.
|
artikel
|
| 32 |
Neuromuscular involvement in systemic sclerosis (SSc)
|
Lori, S.
|
|
1996
|
6 |
Supplement 1 |
p. S34-
1 p.
|
artikel
|
| 33 |
Pathogenesis and therapy of amyotrophic lateral sclerosis (Advances in neurology, volume 68)
|
Mitchell, J.D.
|
|
1996
|
6 |
Supplement 1 |
p. 225-226
2 p.
|
artikel
|
| 34 |
Patterns of abnormal protein expression in target formations and unstructured cores
|
de Bleecker, Jan L.
|
|
1996
|
6 |
Supplement 1 |
p. 339-349
11 p.
|
artikel
|
| 35 |
Peripheral lymphoid tissue-like adhesion molecule expression in nodular infiltrates in inflammatory myopathies
|
De Bleecker, J.L.
|
|
1996
|
6 |
Supplement 1 |
p. 255-260
6 p.
|
artikel
|
| 36 |
Post translational modification of serum TTR
|
Hutchinson, W.L.
|
|
1996
|
6 |
Supplement 1 |
p. S16-
1 p.
|
artikel
|
| 37 |
Proteins and other components of vitroeous and tissue fibrils in familial amyloidosis type 1(transthyretin, TTR Met30)
|
Thylén, Christina
|
|
1996
|
6 |
Supplement 1 |
p. S33-
1 p.
|
artikel
|
| 38 |
Respiratory insufficiency and ventilatory support 39th ENMC International Rorkshop, Naarden, The Netherlands, 26–28 January 1996
|
Rutgers, M.
|
|
1996
|
6 |
Supplement 1 |
p. 431-435
5 p.
|
artikel
|
| 39 |
Role of nicotinic acetylcholine receptors at the vertebrate myotendinous junction: a hypothesis
|
Bernheim, L.
|
|
1996
|
6 |
Supplement 1 |
p. 211-214
4 p.
|
artikel
|
| 40 |
Second international workshop on liver transplantation in FAP
|
|
|
1996
|
6 |
Supplement 1 |
p. S3-
1 p.
|
artikel
|
| 41 |
Selection criteria for liver transplantation in patients with familial amyloidotic polyneuropathy
|
Munar-Qués, M.
|
|
1996
|
6 |
Supplement 1 |
p. S92-
1 p.
|
artikel
|
| 42 |
Sequential study of central and peripheral nervous system involvement in an infant with merosin-deficient congenital muscular dystrophy
|
Mercuri, Eugenio
|
|
1996
|
6 |
Supplement 1 |
p. 425-429
5 p.
|
artikel
|
| 43 |
Spinal muscular atrophy 32nd ENMC international workshop Naarden, The Netherlands, 10–12 March 1995
|
Munsat, T.
|
|
1996
|
6 |
Supplement 1 |
p. 125-127
3 p.
|
artikel
|
| 44 |
Successive injections in MDX mice of myoblasts grown with bFGF
|
Kinoshita, I.
|
|
1996
|
6 |
Supplement 1 |
p. 187-193
7 p.
|
artikel
|
| 45 |
The first structure of an avian transthyretin : Similarities and differences shown by the human and chicken proteins
|
Sunde, Margaret
|
|
1996
|
6 |
Supplement 1 |
p. S9-
1 p.
|
artikel
|
| 46 |
The prevalence of inherited neuromuscular disease in Northern Ireland
|
Hughes, M.I.
|
|
1996
|
6 |
Supplement 1 |
p. 69-73
5 p.
|
artikel
|
| 47 |
Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy
|
Reilly, M.M.
|
|
1996
|
6 |
Supplement 1 |
p. S24-
1 p.
|
artikel
|
| 48 |
Up-regulation of leukaemia inhibitory factor and interleukin-6 in transected sciatic nerve and muscle following denervation
|
Kurek, J.B.
|
|
1996
|
6 |
Supplement 1 |
p. 105-114
10 p.
|
artikel
|
| 49 |
Utrophin expression in skin smooth muscle. Immunohistochemical study
|
Marbini, A.
|
|
1996
|
6 |
Supplement 1 |
p. S31-
1 p.
|
artikel
|
| 50 |
X-linked myotubular myopathy: Refinement of the critical gene region
|
Smolenicka, Z.
|
|
1996
|
6 |
Supplement 1 |
p. 275-281
7 p.
|
artikel
|
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