Autosomal recessive Charcot-Marie-Tooth Neuropathy (ARCMT)

被引：0
|
作者：
Birouk, N. [1 ]
机构：
[1] Hop Specialites, Rabat, Morocco
来源：
JOURNAL OF THE NEUROLOGICAL SCIENCES | 2009年 / 285卷
关键词：
D O I：
10.1016/S0022-510X(09)70166-2
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：S34 / S35
页数：2
相关论文
共 50 条
  • [21] Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families
    Bouhouche, Ahmed
    Birouk, Nazha
    Azzedine, Hamid
    Benomar, Ali
    Durosier, Garry
    Ente, Dorothee
    Muriel, Marie-Paule
    Ruberg, Merle
    Slassi, Ilham
    Yahyaoui, Mohamed
    Dubourg, Odile
    Ouazzani, Reda
    LeGuern, Eric
    BRAIN, 2007, 130 : 1062 - 1075
  • [22] Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies
    Rafaëlle Bernard
    Annachiara De Sandre-Giovannoli
    Valérie Delague
    Nicolas Lévy
    NeuroMolecular Medicine, 2006, 8 : 87 - 106
  • [23] Mutational spectrum of a large cohort of autosomal Recessive Charcot-Marie-Tooth disease
    Leena, Shingavi
    Polavarapu, Kiran
    Preethish-Kumar, Veeramani
    Vengalil, Seena
    Nashi, Saraswati
    Raju, Sanita
    Arunachal, Gautham
    Aaron, Brooke
    Cintra, Vivian
    Rebelo, Adriana
    Zuchner, Stephan
    Nalini, Atchayaram
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2020, 25 (04) : 550 - 551
  • [24] AUTOSOMAL RECESSIVE INHERITANCE OF CHARCOT-MARIE-TOOTH DISEASE ASSOCIATED WITH SENSORINEURAL DEAFNESS
    CORNELL, J
    SELLARS, S
    BEIGHTON, P
    CLINICAL GENETICS, 1984, 25 (02) : 163 - 165
  • [25] Autosomal recessive forms of Charcot-Marie-Tooth Disease: Histological phenotypes and genotypes
    Vallat, JM
    Grid, D
    Magdelaine, C
    Sturtz, F
    Tazir, A
    ANNALS OF NEUROLOGY, 2004, 56 : S13 - S13
  • [26] Loci frequencies in axonal form of autosomal recessive Charcot-Marie-Tooth disease
    Azzedine, H
    Durosier, G
    Brice, A
    Leguern, E
    NEUROLOGY, 2002, 58 (07) : A12 - A12
  • [27] A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing
    Grosz, Bianca R.
    Parmar, Jevin M.
    Ellis, Melina
    Bryen, Samantha
    Simons, Cas
    Reis, Andre L. M.
    Stevanovski, Igor
    Deveson, Ira W.
    Nicholson, Garth
    Laing, Nigel
    Wallis, Mathew
    Ravenscroft, Gianina
    Kumar, Kishore R.
    Vucic, Steve
    Kennerson, Marina L.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2024, 29 (02) : 262 - 274
  • [28] Two Novel GDAP1 Mutations with Intermediate Type Autosomal Recessive Charcot-Marie-Tooth Neuropathy
    Chung, Hwa Kyoung
    NEUROLOGY, 2012, 78
  • [29] Genetic heterogeneity of the axonal form of autosomal recessive Charcot-Marie Tooth disease (ARCMT2)
    Salih, M
    Kabiraj, M
    Al-Rayess, M
    Maisonobe, T
    Urtizberea, J
    Grid, D
    Azzedine, H
    Brice, A
    Le Guern, E
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2005, 238 : S194 - S194
  • [30] KINSHIP WITH AUTOSOMAL HEREDITARY MOTOR AND SENSORY NEUROPATHY (CHARCOT-MARIE-TOOTH DISEASE)
    VANWEERDEN, TW
    HOUTHOFF, HJ
    SEELEN, W
    MINDERHOUD, JM
    CLINICAL NEUROLOGY AND NEUROSURGERY, 1976, 79 (04) : 329 - 329
12345