Overt Hypogonadism May Not Be a Sentinel Sign of RING Finger Protein 216: Two Novel Mutations Associated with Ataxia, Chorea, and Fertility

Lignende værker

• The Multiple Faces of Spinocerebellar Ataxia type 2
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• New AARS2 Mutations in Two Siblings With Tremor, Downbeat Nystagmus, and Primary Amenorrhea: A Benign Phenotype Without Leukoencephalopathy
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• STUB1‐Related Ataxias: A Challenging Diagnosis
  af: Cocozza, Sirio, et al.
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• Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation
  af: Alqwaifly, Mohammed, et al.
  Udgivet: (2016)
• Cognitive and functional connectivity alterations in Friedreich's ataxia
  af: Cocozza, Sirio, et al.
  Udgivet: (2018)