DORIA LAMBA L

Last name: DORIA LAMBA L

1996 (v1)

Publication

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Identification of a 4 bp (1560del4) in P0 gene in a family with severe Charcot-Marie-Tooth disease.

BELLONE, EMILIA MANDICH, PAOLA AJMAR, FRANCO

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Uploaded on: December 5, 2022
2007 (v1)

Publication

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A case of major form familial hyperekplexia: prenatal diagnosis and effective treatment with clonazepam.

DORIA LAMBA L GIRIBALDI G DE NEGRI E

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Uploaded on: May 13, 2023
2010 (v1)

Publication

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The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia

ROSSI, PIA RAVAZZOLO, ROBERTO PULITI, ALDAMARIA

The metabotropic glutamate (mGlu) 1 receptor, coded by the GRM1 gene, is involved in synaptic activities, learning and neuroprotection. Eleven different mouse Grm1 mutations, either induced or spontaneously occurring, have been reported, including one from our group. All the mutations result in a complex phenotype with ataxia and intention...

Uploaded on: March 31, 2023
2010 (v1)

Publication

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Severe neuropathy after Diphtheria-Tetanus-Pertussis vaccination in a child carrying a novel frame-shift mutation in the small haet-shock protein 27 gene (HSPB1).

MANDICH, PAOLA GRANDIS, MARINA SCHENONE, ANGELO

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Uploaded on: March 27, 2023
2008 (v1)

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Childhood thalidomide neuropathy: a clinical and neurophysiologic study.

PRIOLO T DORIA LAMBA L GIRIBALDI G

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Uploaded on: May 13, 2023

DORIA LAMBA L

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