1 |
Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region.
53
62
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De Toffol S...Grati FR
|
20187762 |
2010 |
2 |
Peripheral myelin protein 22 is regulated post-transcriptionally by miRNA-29a.
53
62
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Verrier JD...Notterpek L
|
19170179 |
2009 |
3 |
PMP22 expression in dermal nerve myelin from patients with CMT1A.
53
62
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Katona I...Li J
|
19447823 |
2009 |
4 |
Hereditary neuropathy with liability to pressure palsies and amyotrophic lateral sclerosis.
53
62
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Bhatt A...Dhaliwal G
|
19238316 |
2009 |
5 |
Entrapment in anti myelin-associated glycoprotein neuropathy.
53
62
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Faber CG...Franssen H
|
19306083 |
2009 |
6 |
A laminin-2, dystroglycan, utrophin axis is required for compartmentalization and elongation of myelin segments.
53
62
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Court FA...Feltri ML
|
19321787 |
2009 |
7 |
A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies.
53
62
|
Moszynska I...Kochanski A
|
19830275 |
2009 |
8 |
[Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations].
53
62
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Funalot B...Vallat JM
|
19718987 |
2009 |
9 |
Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations.
53
62
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Vallat JM...Funalot B
|
18957892 |
2008 |
10 |
Pharmacological induction of the heat shock response improves myelination in a neuropathic model.
53
62
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Rangaraju S...Notterpek L
|
18655835 |
2008 |
11 |
Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.
53
62
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Al-Thihli K...Der Kaloustian VM
|
18698610 |
2008 |
12 |
A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies.
53
62
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Luigetti M...Sabatelli M
|
18642376 |
2008 |
13 |
Hereditary neuropathy with liability to pressure palsies in a Turkish patient (HNPP): a rare cause of entrapment neuropathies in young adults.
53
62
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Celik Y...Utku U
|
18382985 |
2008 |
14 |
A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies.
53
62
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Muglia M...Quattrone A
|
17707409 |
2007 |
15 |
Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.
53
62
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Li J...Nicholson GA
|
17620487 |
2007 |
16 |
Phenotype of Charcot-Marie-Tooth disease Type 2.
53
62
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Bienfait HM...de Visser M
|
17502546 |
2007 |
17 |
The formation of peripheral myelin protein 22 aggregates is hindered by the enhancement of autophagy and expression of cytoplasmic chaperones.
53
62
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Fortun J...Notterpek L
|
17174099 |
2007 |
18 |
Identification of Alu elements mediating a partial PMP22 deletion.
53
62
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Matejas V...Rautenstrauss B
|
16570190 |
2006 |
19 |
Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2.
53
62
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Berger P...Suter U
|
16399794 |
2006 |
20 |
A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay.
53
62
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Lin CY...Hsieh ST
|
16463004 |
2006 |
21 |
Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A.
53
62
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Corrado G...Finsterer J
|
16449811 |
2006 |
22 |
Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes.
53
62
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Hodapp JA...Bird TD
|
16401743 |
2006 |
23 |
Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association.
53
62
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Sanahuja J...Illa I
|
16344349 |
2005 |
24 |
Recurrent polyradiculoneuropathy and PMP22 defects.
53
62
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Wang YJ...Lin KP
|
16323394 |
2005 |
25 |
Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements.
53
62
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Naimi M...Leguern E
|
15940694 |
2005 |
26 |
A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies.
53
62
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Zephir H...Vermersch P
|
15955700 |
2005 |
27 |
Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsies.
53
62
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Choi JR...Lim JB
|
15988805 |
2005 |
28 |
Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside.
53
62
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Li J...Shy ME
|
15774502 |
2005 |
29 |
Neuroprotective effect of the immune system in a mouse model of severe dysmyelinating hereditary neuropathy: enhanced axonal degeneration following disruption of the RAG-1 gene.
53
62
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Berghoff M...Martini R
|
15607947 |
2005 |
30 |
Application of multiplex ligation-dependent probe analysis to define a small deletion encompassing PMP22 exons 4 and 5 in hereditary neuropathy with liability to pressure palsies.
53
62
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Sutton IJ...MacDonald F
|
15564036 |
2004 |
31 |
A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.
53
62
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Kleopa KA...Christodoulou K
|
15205993 |
2004 |
32 |
Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies.
53
62
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Li J...Shy ME
|
14755484 |
2004 |
33 |
Distinct elements of the peripheral myelin protein 22 (PMP22) promoter regulate expression in Schwann cells and sensory neurons.
53
62
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Maier M...Suter U
|
14664827 |
2003 |
34 |
Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication.
53
62
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Marques W...Wood NW
|
14502374 |
2003 |
35 |
Rapid detection of duplication/deletion of the PMP22 gene in patients with Charcot-Marie-Tooth disease Type 1A and hereditary neuropathy with liability to pressure palsy by real-time quantitative PCR using SYBR Green I dye.
53
62
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Kim SW...Jung SC
|
14555828 |
2003 |
36 |
Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot-Marie-Tooth-related diseases.
53
62
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Shames I...Snipes GJ
|
12901701 |
2003 |
37 |
Hereditary neuropathy with liability to pressure palsies in infancy.
53
62
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Goikhman I...Zelnik N
|
12849887 |
2003 |
38 |
A rapid and definitive test for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies using multiplexed real-time PCR.
53
62
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Lorentzos P...Nicholson GA
|
12885335 |
2003 |
39 |
Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene.
53
62
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van de Wetering RA...Mariman EC
|
12207933 |
2002 |
40 |
Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.
53
62
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Street VA...Bird TD
|
12207932 |
2002 |
41 |
[Analysis of mutations in the chromosome 17p11.2 region in patients with Charcot-Marie-Tooth type 1 disease and in patients with tomaculous neuropathy].
53
62
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Zamurovic N...Romac S
|
12154515 |
2002 |
42 |
Hereditary neuropathy with liability to pressure palsies associated with central nervous system myelin lesions.
53
62
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Dackovic J...Apostolski S
|
11784354 |
2001 |
43 |
Identification of a positive regulatory element in the myelin-specific promoter of the PMP22 gene.
53
62
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Hai M...Patel PI
|
11550219 |
2001 |
44 |
CNS myelination and PLP gene dosage.
53
62
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Woodward K...Malcolm S
|
11535114 |
2001 |
45 |
Transcriptional startpoints and methylation patterns in the PMP22 promoters of peripheral nerve, leukocytes and tumor cell lines.
53
62
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Huehne K...Rautenstrauss B
|
11351283 |
2001 |
46 |
A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies.
53
62
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Meuleman J...De Jonghe P
|
11369192 |
2001 |
47 |
Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin.
53
62
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Houlden H...Reilly MM
|
11335693 |
2001 |
48 |
[Hereditary neuropathy with pressure palsies].
53
62
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Gjerde IO...Vedeler C
|
11255855 |
2001 |
49 |
[Molecular genetics of hereditary neuropathies].
53
62
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Stogbauer F
|
11299480 |
2001 |
50 |
Screening for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsy in archival nerve biopsy samples by direct-double-differential PCR.
53
62
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Beckmann A...Schroder JM
|
11045666 |
2000 |