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Robertson(A M),King(R H),Muddle(J R),Thoma... J Anat 1997-06-23

...PMP22). Disturbances in PMP22 are associated with abnormal myelination in a range of inherited peripheral neuropathies b...

Liehr(T),Grehl(H),Rautenstrauss(B) Acta Neuropathol 1997-10-23

...PMP22), is duplicated in more than 95% of patients with CMT type 1A (CMT1A; gene dosage 3) and is deleted in about 90% o...

Pareek(S),Notterpek(L),Snipes(G J),Naef(R)... J Neurosci 1997-10-23

...PMP22 in Schwann cells is rapidly degraded in the endoplasmic reticulum. Only a small proportion of the total PMP22 acqu...

Ionasescu(V V),Searby(C C),Ionasescu(R),Re... Muscle Nerve 1997-10-23

...PMP22 gene associated with frameshift mutation.

Blair(I P),Dawkins(J L),Nicholson(G A) Cytogenet Cell Genet 1997-12-09

...PMP22 gene, which is critical in the pathogenesis of two other peripheral neuropathies. By undertaking extensive genetic...

Pareyson(D),Taroni(F) Curr Opin Neurol 1997-02-04

...PMP22. PMP22 frameshift and non-sense mutations can be found in the rare nondeleted cases. Targeted disruption of the PM...

Lobsiger(C S),Magyar(J P),Taylor(V),Wulf(P... Genomics 1997-02-11

...PMP22/EMP/MP20 gene family includes four closely related proteins, peripheral myelin protein-22 (PMP22), epithelial memb...

Silander(K),Meretoja(P),Nelis(E),Timmerman... Hum Mutat 1997-03-28

...PMP22 and Po, are associated with a DSS phenotype. Mutations in the same genes are also responsible for the CMT1 phenoty...

Shaffer(L G),Kennedy(G M),Spikes(A S),Lups... Am J Med Genet 1997-06-06

...PMP22 gene. The reciprocal product of the CMT1A duplication is a 1.5-Mb deletion which causes hereditary neuropathy with...

Nevsímalová(S) Cas Lek Cesk 1997-03-26

On the short arm of the 17th chromosome is a peripheral myelin protein (PMP22) the duplication or point mutation of whic...