Yayınlanmış 1 Ocak 2014
| Sürüm v1
Dergi makalesi
Açık
Loss-of-Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome
Oluşturanlar
- Topaloglu, A. Kemal
- Lomniczi, Alejandro1
- Kretzschmar, Doris2
- Dissen, Gregory A.1
- Kotan, L. Damla3
- McArdle, Craig A.4
- Koc, A. Filiz5
- Hamel, Ben C.6
- Guclu, Metin7
- Papatya, Esra D.8
- Eren, Erdal8
- Mengen, Eda9
- Gurbuz, Fatih9
- Cook, Mandy2
- Castellano, Juan M.10
- Kekil, M. Burcu3
- Mungan, Neslihan O.9
- Yuksel, Bilgin9
- Ojeda, Sergio R.1
- 1. Oregon Natl Primate Res Ctr, Div Neurosci, Beaverton, OR 97006 USA
- 2. Oregon Hlth & Sci Univ, Oregon Inst Occupat Hlth Sci, Portland, OR 97239 USA
- 3. Cukurova Univ, Inst Sci, Dept Biotechnol, TR-01330 Adana, Turkey
- 4. Univ Bristol, Sch Clin Sci, Labs Integrat Neurosci & Endocrinol, Bristol BS1 3NY, Avon, England
- 5. Cukurova Univ, Fac Med, Dept Neurol, TR-01330 Adana, Turkey
- 6. Radboud Univ Nijmegen, Nijmegen Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands
- 7. Uludag Univ, Sch Med, Dept Endocrinol & Metab, TR-16110 Bursa, Turkey
- 8. Uludag Univ, Sch Med, Dept Pediat Endocrinol & Metab, TR-16110 Bursa, Turkey
- 9. Cukurova Univ, Fac Med, Div Pediat Endocrinol, TR-01330 Adana, Turkey
- 10. Univ Cordoba, Dept Cell Biol Physiol & Immunol, E-14071 Cordoba, Spain
Açıklama
Context: Gordon Holmes syndrome (GHS) is characterized by cerebellar ataxia/atrophy and normosmic hypogonadotropic hypogonadism (nHH). The underlying pathophysiology of this combined neurodegeneration and nHH remains unknown.
Dosyalar
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Dosyalar
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