Hereditary Motor and Sensory Neuropathy Mutation

CLINICAL AND GENETIC STUDIES IN PATIENTS WITH HEREDITARY MOTOR SENSORY NEUROPATHY TYPE Ⅰ

村田, 加代子

October 1998

We investigated 12 Japanese patients whose diagnosis was hereditary motor sensory neuropathy type Ⅰ...

DNA Rearrangements on Both Homologues of Chromosome 17 in a Mildly Delayed Individual with a Family History of Autosomal Dominant Carpal Tunnel Syndrome

Potocki, Lorraine
Chen, Ken-Shiung
Koeuth, Thearith
Killian, James
Iannaccone, Susan T.
Shapira, Stuart K.
Kashork, Catherine D.
Spikes, Aimee S.
Shaffer, Lisa G.
Lupski, James R.

February 1999

SummaryDisorders known to be caused by molecular and cytogenetic abnormalities of the proximal short...

Molekulargenetik der autosomal rezessiven Charcot-Marie-Tooth-Neuropathie mit fokal gefalteten Myelinscheiden

Schreiber, Susanne Margarete

January 2009

The hereditary motor and sensory neuropathies (HMSN) or Charcot-Marie-Tooth neuropathies are the mos...

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group

Raeymaekers, P.
Timmerman, V.
Nelis, E.
de Jonghe, P.
Hoogendijk, J. E.
Baas, F.
Barker, D. F.
Martin, J. J.
de Visser, M.
Bolhuis, P. A.

January 1991

Hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth disease type 1 (CMT 1...

Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype

Hoogendijk, J. E.
de Visser, M.
Bolhuis, P. A.
Hart, A. A.
Ongerboer de Visser, B. W.

January 1994

Forty-four affected individuals, aged 8-68 years (mean 34 years), from six families with hereditary ...

Genetic epidemiology of hereditary motor sensory neuropathies (type I).

MOSTACCIUOLO, MARIA LUISA
Micaglio G
Fardin P
Danieli GA

January 1991

Patients affected with hereditary motor sensory neuropathy (HMNS) type I were traced through hospita...

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study

Dierick, Ines
Baets, Jonathan
Irobi, Joy
Jacobs, An
De Vriendt, Els
Deconinck, Tine
Merlini, Luciano
Van den Bergh, Peter
Rasic, Vedrana Milic
Robberecht, Wim
Fischer, Dirk
Morales, Raul Juntas
Mitrovic, Zoran
Seeman, Pavel
Mazanec, Radim
Kochanski, Andrzej
Jordanova, Albena
Auer-Grumbach, Michaela
Helderman-van den Enden, A. T. J. M.
Wokke, John H. J.
Nelis, Eva
De Jonghe, Peter
Timmerman, Vincent

January 2008

Distal hereditary motor neuropathy (HMN) is a clinically and genetically heterogeneous group of diso...

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies : a genotype-phenotype correlation study

Dierick, I.
Baets, J.
Irobi, J.
Jacobs, A.
De Vriendt, E.
Deconinck, T.
Merlini, L.
Van den Bergh, P.
Rasic, V. M.
Robberecht, W.
Fischer, D.
Morales, R. J.
Mitrovic, Z.
Seeman, P.
Mazanec, R.
Kochanski, A.
Jordanova, A.
Auer-Grumbach, M.
Helderman-van den Enden, A. T.
Wokke, J. H.
Nelis, E.
De Jonghe, P.
Timmerman, V.

January 2008

Distal hereditary motor neuropathy (HMN) is a clinically and genetically heterogeneous group of diso...

Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology

FALLERINI, CHIARA
Carignani, Giulia
Capoccitti, Giorgio
FEDERICO, ANTONIO
RUFA, ALESSANDRA
PINTO, ANNA MARIA
Rizzo, Caterina Lo
ROSSI, ALESSANDRO
MARI, FRANCESCA
MENCARELLI, MARIA ANTONIETTA
GIANNINI, FABIO
RENIERI, ALESSANDRA

January 2015

Hereditary motor and sensory neuropathies (HMSN) are genetically heterogeneous disorders affecting p...

Phe 84 deletion of the PMP22 gene associated with hereditary motor and sensory neuropathy HMSN III with multiple cranial neuropathy: clinical, neurophysiological and magnetic resonance imaging findings

Kovanhkaya, I
Cakmur, R
Genc, A
BARLIK OBUZ, FUNDA
Ozturk, VESİLE
Yener, GG
Guiochon-Mantel, A
Baklan, B

March 2001

Hereditary motor and sensory neuropathy (HMSN) is a heterogeneous group of peripheral neuropathies w...

Hereditary motor and sensory neuropathy with calf hypertrophy is associated with 17p11.2 duplication

Uncini A
Di Muzio A
Chiavaroli F
Gambi D
Sabatelli M
Marzella R
ARCHIDIACONO, Nicoletta
ANTONACCI, Rachele
ROCCHI, Mariano

January 1994

The demyelinating type of hereditary motor and sensory neuropathy (HMSN I) is characterized by progr...

Unraveling the genetics of distal hereditary motor neuronopathies

Irobi, Joy
Dierick, Ines
Jordanova, Albena
Claeys, Kristl
De Jonghe, Peter
Timmerman, Vincent

January 2006

The hereditary motor neuronopathies (HMN [MIM 158590]) are a heterogeneous group of disorders charac...

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.

Nelis, E
Van Broeckhoven, C
De Jonghe, P
L\uf6fgren, A
Vandenberghe, A
Latour, P
Le Guern, E
Brice, A
Mostacciuolo, MARIA LUISA
Schiavon, F
Palau, F
Bort, S
Upadhyaya, M
Rocchi, M
Archidiacono, N
Mandich, P
Bellone, E
Silander, K
Savontaus, Ml
Navon, R
Goldberg Stern, H
Estivill, X
Volpini, V
Friedl, W
Gal, A.

January 1996

A European collaboration on Charcot-Marie-Tooth type 1 (CMT1) disease and hereditary neuropathy with...

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

Nelis E
Van Broeckhoven C
De Jonghe P
Löfgren A
Vandenberghe A
Latour P
Le Guern E
Brice A
Mostacciuolo ML
Schiavon F
Palau F
Bort S
Upadhyaya M
ROCCHI, Mariano
Mandich P
Bellone E
Silander K
Savontaus ML
Navon R
Goldberg Stern H
Estivill X
Volpini V
Friedl W
Gal A.
ARCHIDIACONO, Nicoletta

January 1996

A European collaboration on Charcot-Marie-Tooth type 1 (CMT1) disease and hereditary neuropathy with...

Atypical hereditary neuropathy with liability to pressure palsies (HNPP) : the value of direct DNA diagnosis

M. Sessa
R. Nemni
A. Quattrini
U. Del Carro
L. Wrabetz
N. Canal

November 1997

We report two patients with suspected hereditary liability to pressure palsies. Neurophysiological s...

CLINICAL AND GENETIC STUDIES IN PATIENTS WITH HEREDITARY MOTOR SENSORY NEUROPATHY TYPE Ⅰ

村田, 加代子

October 1998

We investigated 12 Japanese patients whose diagnosis was hereditary motor sensory neuropathy type Ⅰ...

DNA Rearrangements on Both Homologues of Chromosome 17 in a Mildly Delayed Individual with a Family History of Autosomal Dominant Carpal Tunnel Syndrome

Potocki, Lorraine
Chen, Ken-Shiung
Koeuth, Thearith
Killian, James
Iannaccone, Susan T.
Shapira, Stuart K.
Kashork, Catherine D.
Spikes, Aimee S.
Shaffer, Lisa G.
Lupski, James R.

February 1999

SummaryDisorders known to be caused by molecular and cytogenetic abnormalities of the proximal short...

Molekulargenetik der autosomal rezessiven Charcot-Marie-Tooth-Neuropathie mit fokal gefalteten Myelinscheiden

Schreiber, Susanne Margarete

January 2009

The hereditary motor and sensory neuropathies (HMSN) or Charcot-Marie-Tooth neuropathies are the mos...

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group

Raeymaekers, P.
Timmerman, V.
Nelis, E.
de Jonghe, P.
Hoogendijk, J. E.
Baas, F.
Barker, D. F.
Martin, J. J.
de Visser, M.
Bolhuis, P. A.

January 1991

Hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth disease type 1 (CMT 1...

Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype

Hoogendijk, J. E.
de Visser, M.
Bolhuis, P. A.
Hart, A. A.
Ongerboer de Visser, B. W.

January 1994

Forty-four affected individuals, aged 8-68 years (mean 34 years), from six families with hereditary ...

Genetic epidemiology of hereditary motor sensory neuropathies (type I).

MOSTACCIUOLO, MARIA LUISA
Micaglio G
Fardin P
Danieli GA

January 1991

Patients affected with hereditary motor sensory neuropathy (HMNS) type I were traced through hospita...

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study

Dierick, Ines
Baets, Jonathan
Irobi, Joy
Jacobs, An
De Vriendt, Els
Deconinck, Tine
Merlini, Luciano
Van den Bergh, Peter
Rasic, Vedrana Milic
Robberecht, Wim
Fischer, Dirk
Morales, Raul Juntas
Mitrovic, Zoran
Seeman, Pavel
Mazanec, Radim
Kochanski, Andrzej
Jordanova, Albena
Auer-Grumbach, Michaela
Helderman-van den Enden, A. T. J. M.
Wokke, John H. J.
Nelis, Eva
De Jonghe, Peter
Timmerman, Vincent

January 2008

Distal hereditary motor neuropathy (HMN) is a clinically and genetically heterogeneous group of diso...

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies : a genotype-phenotype correlation study

Dierick, I.
Baets, J.
Irobi, J.
Jacobs, A.
De Vriendt, E.
Deconinck, T.
Merlini, L.
Van den Bergh, P.
Rasic, V. M.
Robberecht, W.
Fischer, D.
Morales, R. J.
Mitrovic, Z.
Seeman, P.
Mazanec, R.
Kochanski, A.
Jordanova, A.
Auer-Grumbach, M.
Helderman-van den Enden, A. T.
Wokke, J. H.
Nelis, E.
De Jonghe, P.
Timmerman, V.

January 2008

Distal hereditary motor neuropathy (HMN) is a clinically and genetically heterogeneous group of diso...

Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology

FALLERINI, CHIARA
Carignani, Giulia
Capoccitti, Giorgio
FEDERICO, ANTONIO
RUFA, ALESSANDRA
PINTO, ANNA MARIA
Rizzo, Caterina Lo
ROSSI, ALESSANDRO
MARI, FRANCESCA
MENCARELLI, MARIA ANTONIETTA
GIANNINI, FABIO
RENIERI, ALESSANDRA

January 2015

Hereditary motor and sensory neuropathies (HMSN) are genetically heterogeneous disorders affecting p...

Phe 84 deletion of the PMP22 gene associated with hereditary motor and sensory neuropathy HMSN III with multiple cranial neuropathy: clinical, neurophysiological and magnetic resonance imaging findings

Kovanhkaya, I
Cakmur, R
Genc, A
BARLIK OBUZ, FUNDA
Ozturk, VESİLE
Yener, GG
Guiochon-Mantel, A
Baklan, B

March 2001

Hereditary motor and sensory neuropathy (HMSN) is a heterogeneous group of peripheral neuropathies w...

Hereditary motor and sensory neuropathy with calf hypertrophy is associated with 17p11.2 duplication

Uncini A
Di Muzio A
Chiavaroli F
Gambi D
Sabatelli M
Marzella R
ARCHIDIACONO, Nicoletta
ANTONACCI, Rachele
ROCCHI, Mariano

January 1994

The demyelinating type of hereditary motor and sensory neuropathy (HMSN I) is characterized by progr...

Unraveling the genetics of distal hereditary motor neuronopathies

Irobi, Joy
Dierick, Ines
Jordanova, Albena
Claeys, Kristl
De Jonghe, Peter
Timmerman, Vincent

January 2006

The hereditary motor neuronopathies (HMN [MIM 158590]) are a heterogeneous group of disorders charac...

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.

Nelis, E
Van Broeckhoven, C
De Jonghe, P
L\uf6fgren, A
Vandenberghe, A
Latour, P
Le Guern, E
Brice, A
Mostacciuolo, MARIA LUISA
Schiavon, F
Palau, F
Bort, S
Upadhyaya, M
Rocchi, M
Archidiacono, N
Mandich, P
Bellone, E
Silander, K
Savontaus, Ml
Navon, R
Goldberg Stern, H
Estivill, X
Volpini, V
Friedl, W
Gal, A.

January 1996

A European collaboration on Charcot-Marie-Tooth type 1 (CMT1) disease and hereditary neuropathy with...

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

Nelis E
Van Broeckhoven C
De Jonghe P
Löfgren A
Vandenberghe A
Latour P
Le Guern E
Brice A
Mostacciuolo ML
Schiavon F
Palau F
Bort S
Upadhyaya M
ROCCHI, Mariano
Mandich P
Bellone E
Silander K
Savontaus ML
Navon R
Goldberg Stern H
Estivill X
Volpini V
Friedl W
Gal A.
ARCHIDIACONO, Nicoletta

January 1996

A European collaboration on Charcot-Marie-Tooth type 1 (CMT1) disease and hereditary neuropathy with...

Atypical hereditary neuropathy with liability to pressure palsies (HNPP) : the value of direct DNA diagnosis

M. Sessa
R. Nemni
A. Quattrini
U. Del Carro
L. Wrabetz
N. Canal

November 1997

We report two patients with suspected hereditary liability to pressure palsies. Neurophysiological s...

CLINICAL AND GENETIC STUDIES IN PATIENTS WITH HEREDITARY MOTOR SENSORY NEUROPATHY TYPE Ⅰ

村田, 加代子

October 1998

We investigated 12 Japanese patients whose diagnosis was hereditary motor sensory neuropathy type Ⅰ...

DNA Rearrangements on Both Homologues of Chromosome 17 in a Mildly Delayed Individual with a Family History of Autosomal Dominant Carpal Tunnel Syndrome

Potocki, Lorraine
Chen, Ken-Shiung
Koeuth, Thearith
Killian, James
Iannaccone, Susan T.
Shapira, Stuart K.
Kashork, Catherine D.
Spikes, Aimee S.
Shaffer, Lisa G.
Lupski, James R.

February 1999

SummaryDisorders known to be caused by molecular and cytogenetic abnormalities of the proximal short...

Molekulargenetik der autosomal rezessiven Charcot-Marie-Tooth-Neuropathie mit fokal gefalteten Myelinscheiden

Schreiber, Susanne Margarete

January 2009

The hereditary motor and sensory neuropathies (HMSN) or Charcot-Marie-Tooth neuropathies are the mos...

Hereditary Motor and Sensory Neuropathy Mutation

Abstract

Extracted data

Hereditary Motor and Sensory Neuropathy Mutation

Abstract

Extracted data

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