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Giovanni Airoldi

Laboratory of Molecular Biology

13

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385

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Cryptogenic Epileptic Syndromes Related to SCN1A

2017
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Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot–Marie–Tooth type 2

2012 Clinical Genetics
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Senataxin modulates neurite growth through fibroblast growth factor 8 signalling

2011 Brain
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The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K

2010 Journal of Medical Genetics
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Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin

2010 Neurogenetics
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Cryptogenic epileptic syndromes related to SCN1A: Twelve novel mutations identified

2008 JAMA Neurology
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Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction

2008 Neurology
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Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial and sporadic hemiplegic migraine

2007 Clinical Genetics
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Intrafamilial variable presentation of CMT2, spastic paraparesis and cognitive impairment caused by a novel autosomal dominant MFN2 mutation

2007
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NMP03 A novel SETX missense mutation and a BSCL2 variant in a family with distal motor neuronopathy, spasticity, and distal amyotrophy of the lower limbs

2007 European Journal of Paediatric Neurology
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