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18 in total

1. Hereditary motor and sensory neuropathy (HMSN) and optic atrophy (HMSN type VI, Vizioli).

Authors: C Weiller; A Ferbert
Journal: Eur Arch Psychiatry Clin Neurosci Date: 1991 Impact factor: 5.270

2. Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy.

Authors: R M Chalmers; A C Bird; A E Harding
Journal: J Neurol Neurosurg Psychiatry Date: 1996-02 Impact factor: 10.154

3. A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome.

Authors: J J Assink; N T Tijmes; J B ten Brink; R J Oostra; F C Riemslag; P T de Jong; A A Bergen
Journal: Am J Hum Genet Date: 1997-10 Impact factor: 11.025

Review 4. PRPS1 mutations: four distinct syndromes and potential treatment.

Authors: Arjan P M de Brouwer; Hans van Bokhoven; Sander B Nabuurs; Willem Frans Arts; John Christodoulou; John Duley
Journal: Am J Hum Genet Date: 2010-04-09 Impact factor: 11.025

5. Electron microscopic observations of sural nerve in familial opticoacoustic nerve degeneration with polyneuropathy.

Authors: M Ota
Journal: Acta Neuropathol Date: 1970 Impact factor: 17.088

6. Optico-acoustic atrophy in distal spinal muscular atrophy.

Authors: N Chalmers; J D Mitchell
Journal: J Neurol Neurosurg Psychiatry Date: 1987-02 Impact factor: 10.154

7. Familial trigeminal neuralgia in Charcot-Marie-Tooth disease.

Authors: D Testa; C Milanese; L La Mantia; M Mastrangelo; P Crenna; S Negri
Journal: J Neurol Date: 1981 Impact factor: 4.849

8. Strachan's syndrome: variation on a theme.

Authors: O C Cockerell; I E Ormerod
Journal: J Neurol Date: 1993-05 Impact factor: 4.849

9. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.

Authors: L Tranebjaerg; C Schwartz; H Eriksen; S Andreasson; V Ponjavic; A Dahl; R E Stevenson; M May; F Arena; D Barker
Journal: J Med Genet Date: 1995-04 Impact factor: 6.318

10. Autosomal recessive hereditary motor and sensory neuropathy with mental retardation, optic atrophy and pyramidal signs.

Authors: K D MacDermot; R W Walker
Journal: J Neurol Neurosurg Psychiatry Date: 1987-10 Impact factor: 10.154