Neurodégénérescence associée à une protéine bêta-propeller
All Entries 3
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
Website
Email
- Atypical pantothenate kinase-associated neurodegeneration
- Leukodystrophy
- Classic pantothenate kinase-associated neurodegeneration
- Mitochondrial disease
- Neurodegeneration with brain iron accumulation
- Huntington disease
- Rare ataxia
- Pantothenate kinase-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Mitochondrial membrane protein-associated neurodegeneration
- Neuroferritinopathy
- Beta-propeller protein-associated neurodegeneration
- Hereditary spastic paraplegia
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Klinikum rechts der Isar der Technischen Universität München Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- Achondroplasia
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Infantile spasms syndrome
- ADNP syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- KBG syndrome
- Kabuki syndrome
- Rubinstein-Taybi syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Aicardi-Goutières syndrome
- Hennekam syndrome
Hoffnungsbaum e.V.
Wilhelm-Gülpen-Str. 22
52146
Würselen
- Neurodegeneration with brain iron accumulation
- Autosomal recessive spastic paraplegia type 35
- COASY protein-associated neurodegeneration
- Beta-propeller protein-associated neurodegeneration
- Woodhouse-Sakati syndrome
- Pantothenate kinase-associated neurodegeneration
- Kufor-Rakeb syndrome
- Adult-onset dystonia-parkinsonism
- Fatty acid hydroxylase-associated neurodegeneration
- Neuroferritinopathy
- PLA2G6-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Aceruloplasminemia
Parent facilities 0
Genetic Advices 0
Care facilities 2
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
Website
Email
- Atypical pantothenate kinase-associated neurodegeneration
- Leukodystrophy
- Classic pantothenate kinase-associated neurodegeneration
- Mitochondrial disease
- Neurodegeneration with brain iron accumulation
- Huntington disease
- Rare ataxia
- Pantothenate kinase-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Mitochondrial membrane protein-associated neurodegeneration
- Neuroferritinopathy
- Beta-propeller protein-associated neurodegeneration
- Hereditary spastic paraplegia
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Klinikum rechts der Isar der Technischen Universität München Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- Achondroplasia
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Infantile spasms syndrome
- ADNP syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- KBG syndrome
- Kabuki syndrome
- Rubinstein-Taybi syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Aicardi-Goutières syndrome
- Hennekam syndrome
Supportgroups 1
Hoffnungsbaum e.V.
Wilhelm-Gülpen-Str. 22
52146
Würselen
- Neurodegeneration with brain iron accumulation
- Autosomal recessive spastic paraplegia type 35
- COASY protein-associated neurodegeneration
- Beta-propeller protein-associated neurodegeneration
- Woodhouse-Sakati syndrome
- Pantothenate kinase-associated neurodegeneration
- Kufor-Rakeb syndrome
- Adult-onset dystonia-parkinsonism
- Fatty acid hydroxylase-associated neurodegeneration
- Neuroferritinopathy
- PLA2G6-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Aceruloplasminemia