𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Ultrastructural PMP22 expression in inherited demyelinating neuropathies

✍ Scribed by Dr Jean-Michel Vallat; Philippe Sindou; Pierre-Marie Preux; Fransois Tabaraud; André-Michel Milor; Philippe Couratier; Eric Leguern; Alexis Brice

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
485 KB
Volume
39
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

PMP22 expression in CMT1A neuropathy
PMP22 expression in CMT1A neuropathy
✍ C. O. Hanemann; G. Stoll; H. W MüLler 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 126 KB
Tetraspan myelin protein PMP22 and demye
Tetraspan myelin protein PMP22 and demyelinating peripheral neuropathies: New facts and hypotheses
✍ Hans W. Müller 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 60 KB 👁 2 views

It has been demonstrated that abnormal levels of PMP22 expression due to altered gene dosage in CMT1A neuropathy alters Schwann cell growth and differentiation. On the other hand, disease-related missense mutations within transmembrane domains of PMP22 disturb intracellular protein trafficking leadi

Dejerine-Sottas neuropathy in mother and
Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene
✍ Victor V. Ionasescu; Charles C. Searby; Rebecca Ionasescu; Sansnee Chatkupt; Nit 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 55 KB 👁 1 views

We studied a 25-year-old black woman with healthy parents and her 2-year, 11-month-old son. Her motor development was delayed and she started to walk with support when she was 6 years old. She never walked independently and had always used a wheelchair. Neurological evaluation showed severe weakness

Studies on the effects of altered PMP22
Studies on the effects of altered PMP22 expression during myelination in vitro
✍ Donatella D'Urso; Corinne Schmalenbach; Georg Zoidl; Reinhard Prior; Hans Werner 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 300 KB 👁 2 views

Severe inherited dysmyelinating diseases of the peripheral nervous system, the Charcot-Marie-Tooth type1A disease (CMT1A) and the hereditary neuropathy with liability to pressure palsies (HNPP) are associated with a large DNA duplication or deletion of a chromosomal region containing the peripheral

Expression analysis of the PMP22 gene in
Expression analysis of the PMP22 gene in glioma and osteogenic sarcoma cell lines
✍ Kathrin Hühne; Oksoon Park; Thomas Liehr; Bernd Rautenstrauss 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 227 KB 👁 2 views

Previously we reported the amplification of the peripheral myelin protein 22 (PMP22) gene in cell lines of human osteogenic and glioma tumors. PMP22 normally is expressed at high levels in Schwann cells of the peripheral nervous system and is suggested to function as a structural protein of the myel

Screening for mutations in the periphera
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients
✍ Irina V. Mersiyanova; Sookhrat M. Ismailov; Alexandr V. Polyakov; Elena L. Dadal 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 255 KB 👁 2 views

## Communicated by Mark Paalman Charcot-Marie-Tooth disease (CMT) and related inherited peripheral neuropathies, including Dejerine-Sottas syndrome, congenital hypomyelination, and hereditary neuropathy with liability to pressure palsies (HNPP), are caused by mutations in three myelin genes: PMP22,