1991 (v1)
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A
F
AJMAR , Franco
Last name: AJMAR
First name: Franco
Email: andrea.ajmar@edu.unige.it
Institution: UNIGE
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1991 (v1)Publication
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1991 (v1)Publication
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1992 (v1)Publication
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1996 (v1)Publication
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1988 (v1)Publication
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2000 (v1)Publication
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1996 (v1)Publication
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1993 (v1)Publication
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1994 (v1)Publication
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1999 (v1)Publication
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1996 (v1)Publication
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2006 (v1)Publication
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant, demyelinating neuropathy. Point mutations in the PMP22 gene are a rare cause of HNPP. A novel PMP22 splice site mutation (c.179+1 G-->C) is reported in an HNPP family. By reverse transcriptase-polymerase chain reaction experiments, this mutation was shown...
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1997 (v1)Publication
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2004 (v1)Publication
OBJECTIVE: To report a new mutation in the MPZ gene which encodes myelin protein zero (P0), associated with an axonal form of Charcot-Marie-Tooth disease (CMT). METHODS: Three patients from an Italian family with a mild, late onset axonal peripheral neuropathy are described clinically and electrophysiologically. To detect point mutation in MPZ...
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1990 (v1)Publication
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1995 (v1)Publication
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1995 (v1)Publication
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1997 (v1)Publication
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1997 (v1)Publication
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1999 (v1)PublicationExclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II
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2004 (v1)Publication
BACKGROUND: Mutations in a gene encoding a novel protein of unknown function-the ganglioside-induced differentiation-associated protein 1 gene (GDAP1)-are associated with the autosomal recessive Charcot-Marie-Tooth disease type 4A (CMT4A). OBJECTIVE: To investigate the role of GDAP1 mutations in causing autosomal recessive neuropathies in an...
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1994 (v1)Publication
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1999 (v1)Publication
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