Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients

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DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1991 • 1,293 citations

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

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Peripheral Neuropathy

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Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

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Intensive evaluation of referred unclassified neuropathies yields improved diagnosis

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1992 • 280 citations

A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies

1994 • 217 citations

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

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De-novo mutation in hereditary motor and sensory neuropathy type I

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HEREDITARY NEUROPATHY, WITH LIABILITY TO PRESSURE PALSIES<subtitle>A Clinical and Electrophysiological Study of Four Families<xref ref-type="fn" rid="fn1"><sup>1</sup></xref></subtitle>

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Inherited Primary Peripheral Neuropathies

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Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP)

1994 • 49 citations

Altered sodium channel behaviour causes myotonia in dominantly inherited myotonia congenita

1991 • 38 citations

Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies

1994 • 37 citations

Hereditary motor and sensory neuropathy with calf hypertrophy is associated with 17p 11.2 duplication

1994 • 31 citations

An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A.

1992 • 28 citations

Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families.

1992 • 24 citations

A yeast artificial chromosome contig spanning the Charcot — Marie — Tooth disease type 1A duplication region

1992 • 9 citations

Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia)

1992 • 6 citations