Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome (2014)
- Authors:
- USP affiliated authors: ZATZ, MAYANA - IB ; KOK, FERNANDO - FM
- Unidades: IB; FM
- DOI: 10.1002/mus.24087
- Subjects: DOENÇAS NEURODEGENERATIVAS; GENÉTICA MÉDICA; GENES RECESSIVOS; DOENÇAS DO SISTEMA NERVOSO PERIFÉRICO
- Language: Inglês
- Imprenta:
- Source:
- Título: Muscle & Nerve
- ISSN: 1097-4598
- Volume/Número/Paginação/Ano: v. 49, n. 1, p. 131–133, Jan. 2014
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
AMORIM, Simone et al. Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome. Muscle & Nerve, v. 49, n. Ja 2014, p. 131–133, 2014Tradução . . Disponível em: https://doi.org/10.1002/mus.24087. Acesso em: 11 fev. 2026. -
APA
Amorim, S., Heise, C. O., Santos, S., Macedo-Souza, L. I., Zatz, M., & Kok, F. (2014). Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome. Muscle & Nerve, 49( Ja 2014), 131–133. doi:10.1002/mus.24087 -
NLM
Amorim S, Heise CO, Santos S, Macedo-Souza LI, Zatz M, Kok F. Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome [Internet]. Muscle & Nerve. 2014 ; 49( Ja 2014): 131–133.[citado 2026 fev. 11 ] Available from: https://doi.org/10.1002/mus.24087 -
Vancouver
Amorim S, Heise CO, Santos S, Macedo-Souza LI, Zatz M, Kok F. Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome [Internet]. Muscle & Nerve. 2014 ; 49( Ja 2014): 131–133.[citado 2026 fev. 11 ] Available from: https://doi.org/10.1002/mus.24087 - Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family
- Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations
- A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability
- Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome
- A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)
- Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG
- Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP
- Santos syndrome is caused by mutation in the WNT7A gene
- A novel complex neurological phenotype due to a homozygous mutation in FDX2
- Typical clinical and neuroimaging features in Sjögren-Larsson syndrome [Editorial]
Informações sobre o DOI: 10.1002/mus.24087 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
