PUBLICATIONS of MMG

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Résultats : 4197  publications trouvées.

Antonellis, A.  et al. 1993

GARS1-Associated Axonal Neuropathy

GARS1-associated axonal neuropathy (Charcot-Marie-Tooth neuropathy type 2D / distal spinal muscular atrophy V [CMT2D/dSMA-V]) is characterized by adolescent or early-adult onset of weakness in the...
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Nadeau G, .  et al. 0

Puechberty J

Tevissen H
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Ben Zeev B, .  et al. 0

Pineda M

Mari F
Ravn K - issue: Mejaaki Boanjak V - volume: Polg - pages: Djuric M.

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Eur J Hum Genet. 2000 Feb, .  et al. 0

Villard L

10.1038/sj.ejhg.5200432
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Rondinella D, .  et al. 0

De Filippis R

Chabrol B
- issue: Mari F - volume: Ariani F - pages: Pineda M.

Haymowicz M, .  et al. 0

Welborn R

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A., .  et al. 0

L.; Roussel

electroencephalography (EEG)
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Am J Med Genet. 2000 Mar 6, .  et al. 0

Villard L

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Font, .  et al. 0

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Fontés M, .  et al. 0

Colleaux L.;"Gene. 1999 Jul 22;235(1-2):43-50. doi: 10.1016/s0378-1119(99)00217-6.";Villard L;Gene;1999;23/07/1999;;;10.1016/s0378-1119(99)00217-6

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Katja, .  et al. 0

Maarten H.; Accogli

Coriene; Grasshoff
they have been reported with wide phenotypic variability. We report on six individuals with novel WDR62 mutations who illustrate this variability and describe three in greater detail. Of the three - issue: Niels; Morris-Rosendahl - volume: Deborah J.; Mancini - pages: Leontine; Verheijen.

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the high expression of this gene in fetal brain and in the adult cerebral cortex could be consistent with a role in brain development and/or cognitive function.", .  et al. 0

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Hum Mutat. 1999 Nov, .  et al. 0

Lévy N

10.1002/(SICI)1098-1004(199911)14:5<448::AID-HUMU15>3.0.CO;2-Q
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