Results 161 to 170 of about 319,403 (201)

Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30

Journal of Medical Genetics, 1999
Twin studies are an important tool in medical genetics for the evaluation of the relative roles of genetic and non-genetic factors in several diseases. Familial amyloidotic polyneuropathy type I (FAP-I), TTR Met 30, was present in two sets of proven monozygotic (MZ) twins, one from Majorca and the other from Portugal.
M, Munar-Qués, J L, Pedrosa, T, Coelho, L, Gusmão, R, Seruca, A, Amorim, J, Sequeiros   +6 more
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[Familial amyloid neuropathies].

Revue neurologique, 1994
Recent advances in molecular biology have given improved knowledge of familial amyloidotic polyneuropathies (FAP). FAP, originally described in Portuguese patients have been observed in many countries. These neuropathies are characterized by a sensory motor deficit beginning in the lower limbs and associated with autonomic nervous system involvement ...
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Generalized Amyloid in a Family of Swedish Origin

Annals of Internal Medicine, 1977
We report a new kinship with systemic amyloid presenting as peripheral neuropathy in the fourth and fifth decades of life. A progressive sensory and motor loss starting in the lower extremities occurs from this disease, and there is subsequent renal, cardiac, gastrointestinal, ocular, and cutaneous involvement.
M D, Benson, A S, Cohen
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[Familial amyloid neuropathy of Corino Andrade. Ultrastructural study of the peripheral nerve in 2 patients].

Revue neurologique, 1976
The authors describe two typical cases of Portuguese amyloid neuropathy in immigrants. One of the patients had been ill for only a short time while the other's condition had been developing over more than ten years. The first patient's neuropathy was characterized by a perforating ulcer of the foot and loss of sensation.
J, Julien, J M, Vallat, C, Vital, B, Coiffu, P, Legendre, M, Vallat   +5 more
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[Indications for simultaneous origin of a German and American family with type II hereditary amyloid neuropathy].

Der Nervenarzt, 1999
The classification of familial amyloid neuropathies (FAP) is traditionally based on clinical and regional aspects. In the last 10 years more than 40 mutations of the transthyretin gene have been found to be responsible for different clinical forms of amyloidosis including familial FAP.FAP II is caused by a mutation on the codon 58 of the transthyretin ...
S, Seddigh, N, Dahmen, H H, Goebel, H C, Hopf, M D, Benson   +4 more
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Familial amyloid neuropathy: Unusual etiology in clinical practice

Neurology India, 2012
Ashwani K, Uttam, Kameshwar, Prasad, Mehar C, Sharma, Elanthenral, Sigamani   +3 more
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'Nonprealbumin‐related' familial amyloid poly neuropathy

Neurology, 1988
S, Ueno, Y, Nakamura, M, Takahashi, S, Tarui, H, Sasaki   +4 more
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[The place of type I familial amyloid neuropathy in amylosis. Anatomo-clinical study of a case in France].

Annales de pathologie, 1984
The clinical and pathologic findings of a case of amyloidogenic heredo familial neuropathy type I is presented. The patient is a man, died at 46 years. The examination of a nerve biopsy, the clinical evolution and the family history are representative of the condition.
M B, Delisle, H, Bouissou, G, Geraud
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Biomarkers for Rapid Progression in Familial Amyloid Neuropathy (P5.045)

Neurology, 2016
Sung-Tsang Hsieh, Chi-Chao Chao
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Improvement of familial amyloid neuropathy following liver transplantation

Neuromuscular Disorders, 1996
P.R. Bergethon, T.D. Sabin, D. Lewis, R. Simms, A.S. Cohen, M. Skinner   +5 more
openaire   +1 more source