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Novel Pathogenic Variant in the NEU1 Gene in a Patient With Sialidosis With Progressive Myoclonus Ataxia With Cherry-Red Spot.
Sahoo, Lulup K; Kota, Vidyasagar; Panigrahi, Pradeep K; Pattnaik, Srimant; Mishra, Ajit P; Sahoo, Srikanta K.
Afiliación
  • Sahoo LK; From the Department of Neurology (L.K.S., V.K., S.P., A.P.M., S.K.S.), and Department of Opthalmology (P.K.P.), IMS and SUM Hospital, Bhubaneswar, India. lulupsahoo@gmail.com.
  • Kota V; From the Department of Neurology (L.K.S., V.K., S.P., A.P.M., S.K.S.), and Department of Opthalmology (P.K.P.), IMS and SUM Hospital, Bhubaneswar, India.
  • Panigrahi PK; From the Department of Neurology (L.K.S., V.K., S.P., A.P.M., S.K.S.), and Department of Opthalmology (P.K.P.), IMS and SUM Hospital, Bhubaneswar, India.
  • Pattnaik S; From the Department of Neurology (L.K.S., V.K., S.P., A.P.M., S.K.S.), and Department of Opthalmology (P.K.P.), IMS and SUM Hospital, Bhubaneswar, India.
  • Mishra AP; From the Department of Neurology (L.K.S., V.K., S.P., A.P.M., S.K.S.), and Department of Opthalmology (P.K.P.), IMS and SUM Hospital, Bhubaneswar, India.
  • Sahoo SK; From the Department of Neurology (L.K.S., V.K., S.P., A.P.M., S.K.S.), and Department of Opthalmology (P.K.P.), IMS and SUM Hospital, Bhubaneswar, India. lulupsahoo@gmail.com.
Neurology ; 101(19): 861-862, 2023 11 07.
Article en En | MEDLINE | ID: mdl-37604664

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Degeneraciones Espinocerebelosas / Mucolipidosis / Mioclonía Idioma: En Revista: Neurology Año: 2023 Tipo del documento: Article

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Degeneraciones Espinocerebelosas / Mucolipidosis / Mioclonía Idioma: En Revista: Neurology Año: 2023 Tipo del documento: Article