scholarly article | Q13442814 |
P50 | author | Annachiara De Sandre-Giovannoli | Q30423440 |
Nicolas Levy | Q42607195 | ||
Valerie Delague | Q57151158 | ||
P2093 | author name string | Mégarbané A | |
Maisonobe T | |||
Grid D | |||
Atweh S | |||
Krahn M | |||
Chaouch M | |||
Hamadouche T | |||
Boccaccio I | |||
Chouery E | |||
Jabbour R | |||
P433 | issue | 3 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | homozygosity | Q114049690 |
P304 | page(s) | 260-265 | |
P577 | publication date | 2005-03-01 | |
P1433 | published in | Journal of Medical Genetics | Q14640281 |
P1476 | title | Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11 | |
P478 | volume | 42 |
Q41606031 | A Mechanistic Understanding of Axon Degeneration in Chemotherapy-Induced Peripheral Neuropathy |
Q42365360 | A network of conserved formins, regulated by the guanine exchange factor EXC-5 and the GTPase CDC-42, modulates tubulogenesis in vivo |
Q37180610 | A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H. |
Q79139583 | A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease |
Q38916443 | A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family. |
Q38115571 | Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes |
Q36507147 | Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease |
Q40508711 | Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families |
Q37998518 | Demyelinating prenatal and infantile developmental neuropathies |
Q37383716 | Diagnosis of Charcot-Marie-Tooth disease. |
Q24676752 | Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H |
Q36474685 | Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells |
Q24676494 | Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4 |
Q37040608 | The function of RhoGTPases in axon ensheathment and myelination |
Q54303481 | Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H). |
Q42096382 | Unraveling gene expression profiles in peripheral motor nerve from amyotrophic lateral sclerosis patients: insights into pathogenesis |
Search more.