Charcot-Marie-Tooth neuropathy type 4 (CMT4) comprises a large group of genetically heterogeneous progressive sensory motor neuropathies characterized by autosomal recessive inheritance. Among these, CMT4B includes 3 forms related to genes of the myotubularin family, namely CMT4B1 (MTMR2), CMT4B2 (MTMR13/SBF2), and CMT4B3 (MTMR5/SBF1)
BACKGROUND: Advances in molecular genetic technologies have improved our understanding of genetic ca...
Charcot–Marie–Tooth (CMT) disease is the most commonly inherited neurological disor-der. This study ...
Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of inherited neuropathies. Mutations in a...
Charcot-Marie-Tooth neuropathy type 4 (CMT4) comprises a large group of genetically heterogeneous pr...
Background: Charcot-Marie-Tooth disease (CMT) type 4B3 (CMT4B3) is a rare form of genetic neuropathy...
BACKGROUND: Inherited peripheral neuropathies (IPNs) represent a broad group of genetically and c...
Background Inherited peripheral neuropathies (IPNs) represent a broad group of genetically and clini...
The association between multiple sclerosis (MS) and hereditary and sporadic demyelinating disorders ...
Objective: Charcot-Marie-Tooth (CMT) disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive ...
Even in the absence of classic features of mitochondrial disease, POLG1 should be considered in pati...
BACKGROUND: The axonal subtype of Charcot-Marie-Tooth (CMT2A) is commonly caused by dominant mutatio...
PhD ThesisInherited peripheral neuropathies or Charcot-Marie-Tooth disease (CMT) are common neuromus...
Charcot-Marie-Tooth (CMT) disease denotes a large group of genetically heterogeneous hereditary moto...
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common subtype of inherited peripheral neuro...
Background and purpose: Pathogenic variants in B4GALNT1 have been reported to cause hereditary spast...
BACKGROUND: Advances in molecular genetic technologies have improved our understanding of genetic ca...
Charcot–Marie–Tooth (CMT) disease is the most commonly inherited neurological disor-der. This study ...
Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of inherited neuropathies. Mutations in a...
Charcot-Marie-Tooth neuropathy type 4 (CMT4) comprises a large group of genetically heterogeneous pr...
Background: Charcot-Marie-Tooth disease (CMT) type 4B3 (CMT4B3) is a rare form of genetic neuropathy...
BACKGROUND: Inherited peripheral neuropathies (IPNs) represent a broad group of genetically and c...
Background Inherited peripheral neuropathies (IPNs) represent a broad group of genetically and clini...
The association between multiple sclerosis (MS) and hereditary and sporadic demyelinating disorders ...
Objective: Charcot-Marie-Tooth (CMT) disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive ...
Even in the absence of classic features of mitochondrial disease, POLG1 should be considered in pati...
BACKGROUND: The axonal subtype of Charcot-Marie-Tooth (CMT2A) is commonly caused by dominant mutatio...
PhD ThesisInherited peripheral neuropathies or Charcot-Marie-Tooth disease (CMT) are common neuromus...
Charcot-Marie-Tooth (CMT) disease denotes a large group of genetically heterogeneous hereditary moto...
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common subtype of inherited peripheral neuro...
Background and purpose: Pathogenic variants in B4GALNT1 have been reported to cause hereditary spast...
BACKGROUND: Advances in molecular genetic technologies have improved our understanding of genetic ca...
Charcot–Marie–Tooth (CMT) disease is the most commonly inherited neurological disor-der. This study ...
Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of inherited neuropathies. Mutations in a...