DOI: 10.1016/s0960-8966(03)00093-2. Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease

10.1016/s0960-8966(03)00093-2

Crossref journal-article

Elsevier BV

Neuromuscular Disorders (78)

Bibliography

Ammar, N., Nelis, E., Merlini, L., BariÅ¡iÄ, N., Amouri, R., Ceuterick, C., Martin, J.-J., Timmerman, V., Hentati, F., & De Jonghe, P. (2003). Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease. Neuromuscular Disorders, 13(9), 720â728.

Authors 10

Nadia Ammar (first)
Eva Nelis (additional)
Luciano Merlini (additional)
Nina Barišić (additional)
Rim Amouri (additional)
Chantal Ceuterick (additional)
Jean-Jacques Martin (additional)
Vincent Timmerman (additional)
Fayçal Hentati (additional)
Peter De Jonghe (additional)

References 17 Referenced 43

{'key': '10.1016/S0960-8966(03)00093-2_BIB1', 'series-title': 'Peripheral neuropathy', 'first-page': '1094', 'article-title': 'Hereditary motor and sensory neuropathies', 'author': 'Dyck', 'year': '1993'} / Peripheral neuropathy / Hereditary motor and sensory neuropathies by Dyck (1993)
10.1093/hmg/2.10.1625 / Hum Mol Genet / Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q by Ben Othmane (1993)
10.1038/ng796 / Nat Genet / Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21 by Baxter (2002)
10.1038/75542 / Nat Genet / Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 by Bolino (2000)
10.1086/302978 / Am J Hum Genet / N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom by Kalaydjieva (2000)
10.1038/ng0498-382 / Nat Genet / Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies by Warner (1998)
10.1093/hmg/10.4.415 / Hum Mol Genet / A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease by Guilbot (2001)
10.1086/318208 / Am J Hum Genet / Periaxin mutations causes recessive Dejerine–Sottas neuropathy by Boerkoel (2001)
10.1002/ana.1137 / Ann Neurol / Hereditary motor and sensory neuropathy-Russe: new autosomal recessive neuropathy in Balkan gypsies by Thomas (2001)
10.1086/339274 / Am J Hum Genet / Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse by De Sandre-Giovannoli (2002)
10.1086/316934 / Am J Hum Genet / A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3 by Leal (2001)
10.1016/S0960-8966(00)00162-0 / Neuromuscul Disord / Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3 by Barhoumi (2001)
10.1038/ng798 / Nat Genet / The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease by Cuesta (2002)
10.1212/01.WNL.0000036272.36047.54 / Neurology / Mutations in GDAP1: autosomal recessive CMT with both demyelination and axonopathy by Nelis (2002)
10.1093/brain/awg068 / Brain / Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy by Senderek (2003)
10.1093/brain/122.2.281 / Brain / The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype by De Jonghe (1999)
10.2174/0929867306666220208213032 / Curr Med Chem / Glutathione S-transferases—a review by Salinas (1999)

Dates

Type	When
Created	21 years, 11 months ago (Sept. 16, 2003, 8:18 p.m.)
Deposited	2 years, 4 months ago (April 26, 2023, 7:13 p.m.)
Indexed	11 months, 2 weeks ago (Sept. 15, 2024, 11:50 a.m.)
Issued	21 years, 9 months ago (Nov. 1, 2003)
Published	21 years, 9 months ago (Nov. 1, 2003)
Published Print	21 years, 9 months ago (Nov. 1, 2003)

Funders 0

None

BibTeX

@article{Ammar_2003, title={Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease}, volume={13}, ISSN={0960-8966}, url={http://dx.doi.org/10.1016/s0960-8966(03)00093-2}, DOI={10.1016/s0960-8966(03)00093-2}, number={9}, journal={Neuromuscular Disorders}, publisher={Elsevier BV}, author={Ammar, Nadia and Nelis, Eva and Merlini, Luciano and Barišić, Nina and Amouri, Rim and Ceuterick, Chantal and Martin, Jean-Jacques and Timmerman, Vincent and Hentati, Fayçal and De Jonghe, Peter}, year={2003}, month=nov, pages={720–728} }

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