Neuromuscular

Home, Search, Index, Links, Pathology, Molecules, Syndromes,
Muscle, NMJ, Nerve, Spinal, Ataxia, Antibody & Biopsy, Patient Info


HEREDITARY MOTOR SYNDROMES (SMA, ALS + ...)

Hereditary & Familial ALS
Dominant
  ALS 1: SOD1; 21q
  ALS 3: 18q21
  ALS 4: Senataxin; 9q34
  ALS 6: FUS; 16p11
  ALS 7: 20p13
  ALS 8: VAPB; 20q13
  ALS 9: Angiogenin; 14q11
  ALS 10: TDP-43; 1p36
  ALS 11: FIG4; 6q21
  ALS 12: OPTN; 10p15
  ALS 13: Ataxin-2: 12q24
  ALS 14: VCP; 9p13
  ALS 18: PFN1; 17p13
  ALS 19: ErbB4; 2q34
  ALS 20: HNRNPA1; 12q13
  ALS 21: Matr3; 5q31
  ALS: DAO; 12q24
  ALS-FTD: c9orf72; 9p21
  ALS-FTD: 16p12
  ALS-FTD: GRN; 17q21
  Bulbar ALS
  Dynactin: 2p13
  SPG17: BSCL2; 11q13
Recessive
  ALS 2: Alsin; 2q33
  ALS 5: Spatacsin; 15q21
  ALS 6: FUS; 16p11
  ALS 12: OPTN; 10p15
  ALS 16: SIGMAR1; 9p13
  ALS 6-21: 6p25, 21q22
  SPG39: PNPLA6; 19p13
  MPAN: c19orf12; 9q12
X-linked, Dominant
  ALS 15: UBQLN2; Xp11
Other (Sporadic)
  ALS 1: SOD1; 21q
  ALS-FTD-3: CHMP2B; 3p11
  ALS: NEFH; 22q12
  Peripherin: 12q12
  ALS 6: FUS; 16p11
  EWSR1: 22q12
  SQSTM1 (p62): 5q35
  TAF15: 17q12
  Western Pacific
    ALS-PD1
    ALS-PD2

Also see
  Aggregates
  External link: ALS mutations
  Onset age
  PLS
  ALS Susceptibility loci
  Mouse models
Spinal muscular atrophy (SMA): Types
  Recessive SMA
    SMA1: SMN 5q
      Congenital with arthrogryposis
      Werdnig-Hoffmann
      Kugelberg-Welander
    Spinal muscular atrophy 2 (SMA2)
    SMA + Congenital fractures
    SMA + Myoclonus Epilepsy: ASAH1; 8q22
    SMA + Pontocerebellar hypoplasia (PCH)
      PCH1A: VRK1; 14q32
      PCH1B: EXOSC3; 9p11
    Mitochondrial
      SCO2: 22q13
      TK2: 16q22
      DGUOK: 2p13
  Dominant, Proximal
    Adult onset: VAPB; 20q13
    Adult onset + Cramps (SMAJ): 22q11
    Bulbar
    Congenital + Legs weak: TRPV4; 12q24
    HMSN-P (Okinawa type): TFG; 3q12
    Scapuloperoneal syndromes
    SMALED
      1: Leg predominant; DYNC1H1; 14q32
      2: Early-onset; Contractures; BICD2; 9q22
  X-linked SMA (Recessive)
    Bulbospinal (Kennedy): AR; Xq12
    SMAX
      2: Infant + Arthrogryposis; UBE1; Xp11
      3: Distal; ATP7A; Xq13

Bulbar syndromes
  AAA syndrome: Aladin; 12q13; Recessive
  Brown-Vialetto-van Laere
  BSMA: Dominant
  Bulbar ALS
  Fazio-Londe: Recessive or Dominant
  Kennedy (BSMA): Androgen Receptor; Xq12
  PLS, Juvenile: Alsin; 2q33; Recessive
  Worster-Drought
HMN
    1: 7q34; Dominant
    2
      A: HSPB8 (HSP22); 12q24; Dominant
      B: HSPB1 (HSP27); 7q11; Dom or Rec
      C: HSPB3 (HSPL27); 5q11; Dominant
      D: FBXO38; 5p31; Dominant
    5: Upper limb predominance
      A: GARS; 7p15; Dominant
      B: REEP1; 2p11.2; Dominant
      C: BSCL2; 11q13; Dominant
    6: IGHMBP2; 11q13; Recessive
    7: + Vocal cord paralysis, Dominant
      A: SLC5A7; 2q12
      B: Dynactin; 2p13
      Congenital, Legs: TRPV4; 12q24
    + Upper motor neuron
          Senataxin; 9q34; Dominant
          4q34: Dominant
          HMN
            J: 9p21; Recessive
            2B: HSPB1; 7q11; Dominant
            5C: BSCL2; 11q13; Dominant
            7B: Dynactin; 2p13; Dominant
          SPG + Motor neuropathy
    HMN: 11p; Recessive
    HMN: 16p
    CMT 2N: AARS; 16q22; Dominant
    CMT 2O: DYNC1H1; 14q32; Dominant
    Neuromyotonia: HINT1; 5q31; Recessive
    Childhood: BICD2; 9q22

  Distal SMA (DSMA; dHMN)
    General
    Recessive
      1 (SMARD1): IGHMBP2; 11q13
      2 (HMN J): 9p21
      3: 11q13
      4: PLEKHG5; 1p36
      5: DNAJB2 (HSJ1); 2q35
      + Ataxia telangectasia: ATM; 11q22
      Lethal congenital contractures
    Dominant
      Calf predominant: FBXO38; 5p31
      Leg predominant
      Distal Ulnar-Median
      Childhood: BICD2; 9q22
      + Macular Degeneration: FBLN5; 14q32
      Scapuloperoneal: TRPV4; 12q24
    X-linked
      SMAX 3: ATP7A; Xq13
      SMARD2: LAS1L; Xq12
    Mitochondrial
      mtATP6 ± Episodic weakness
      mtATP8
    Sporadic: Hirayama
    Distal Motor Neuropathy or Myopathy
      KLHL9: 9p22; Dominant
      MYH14: 19q13; Dominant
Multisystem disorders
  Recessive
    AAA syndrome: Aladin; 12q13
    ANE: RBM28; 7q31; Recessive
    Hexosaminidase A: HEXA; 15q23; Recessive
    Leukoencephalopathy: SCP2; 1p32
    MND + Dementia & Ophthalmoplegia
    MPAN: c19orf12; 9q12
  Dominant
    Cataracts & Skeletal abnormalities
    DDPAC: MAPT; 17q21
    Machado-Joseph: Ataxin-3; 14q32
    Myopathy + Paget: HNRNPA2B1; 7p15
  X-linked
    Cabezas: CUL4B; Xq23
    Neuroaxonal dystrophy 2
    Polyglucosan body: GBE1; 3p12
  Mitochondrial: SCO2
  Sporadic: Camera-Marugo-Cohen
  Spastic paraparesis
  Spastic paraparesis + Motor neuropathy

Distal SMA

From: Spiller


Spinal Muscular Atrophy (SMA0; SMA1; SMA2; SMA3; SMA4; SMA 5q)

  Survival Motor Neuron 1 (SMN1) protein ; Chromosome 5q13.2; Recessive

SMA: Clinical features
  Congenital
    Arthrogryoposis
    SMA 0
  Types: 1; 2; 3; 4
  Lower motor neuron
SMA
  Clinical - Genetic correlations
  Epidemiology & History
  Gene testing
  Pathology
SMN
  Genes: SMN1; SMN2
  Protein
Other related & neighboring genes



From: Andrew Kornberg MD

Hoffman ~1891


SMN1 mRNA
90% of pre-mRNA spliced to full length SMN


SMN2 mRNA
80% of pre-mRNA spliced to SMN with no exon 7
SMN without exon 7 is unstable & rapidly degraded

Bulbo-Spinal Muscular Atrophy (BSMA; Kennedy's Syndrome; X-linked)

  Androgen Receptor (AR) (Increased CAG repeats) ; Xq12; Recessive

Androgen receptor protein
Clinical features
Clinical-genetic correlations
Epidemiology
Laboratory features
Onset
Pathogenic mechanisms
Pathology
Bulbo-Spinal Muscular Atrophy
Gynecomastia

Bulbo-Spinal Muscular Atrophy with Gynecomastia (Autosomal Dominant)1

  Autosomal Dominant

Spinal Muscular Atrophy 2 5

Autosomal Recessive (Not linked to SMA 5q)

Spinal Muscular Atrophy: Distal (Distal Hereditary Motor Neuropathies (dHMN)) 85


J Nervous & Mental Disease 1894


Distal Hereditary Motor Neuropathies: General features 49




Distal hereditary motor neuropathy I (HMN 1; Distal HMN I)

  Chromosome 7q34-q36; Dominant 59


Distal hereditary motor neuropathy, type 2 (HMN 2A; Distal HMN II)

  Heat-shock 22-kD protein 8 (HSPB8; HSP22) ; Chromosome 12q24.23; Dominant


Distal hereditary motor neuropathy (HMN 2B)

  Heat-shock 27-kD protein 1 (HSPB1; HSP 27) ; Chromosome 7q11.23; Dominant or Recessive

Distal hereditary motor neuropathy with upper motor neuron signs 22

  Senataxin (SETX) ; Chromosome 9q34.13; Dominant


Distal SMA: Upper limb predominance (HMN 5A; SMAD1)

  Glycyl tRNA Synthetase ; Chromosome 7p14.3; Dominant


Distal SMA: Upper limb predominance (HMN 5C) 6

BSCL2 gene (Seipin) ; Chromosome 11q12.3; Dominant


Hereditary Distal Ulnar-Median Muscular Atrophy7

  Autosomal Dominant


Distal Hereditary Motor Neuronopathy 7A (HMN 7A; dHMN-VII) (Vocal cord involvement)

  Solute carrier family 5 (Choline transporter), Member 7 (SLC5A7; CHT) ; Chromosome 2q12.3; Dominant


Distal Hereditary Motor Neuronopathy 7B (Vocal cord involvement) (HMN 7B) 34

  Dynactin (DCTN1) ; Chromosome 2p13.1; Dominant


Distal SMA: Calf predominant (HMN2D) 106

  F-box only protein 38 (FBXO38; MOKA) ; Chromosome 5p31.1; Dominant

Distal SMA: Leg predominant 19

  Dominant


Distal SMA 3 (DSMA 3) 21

  Chromosome 11q13.3; Recessive


Distal HMN: Childhood onset

  Autosomal Recessive


Distal infantile spinal muscular atrophy with diaphragm paralysis (DSMA1; SMARD1; HMN 6)

  Immunoglobulin μ-binding protein 2 (IGHMBP2) ; Chromosome 11q13.3; Recessive


Distal hereditary motor neuropathy, Jerash type (DSMA 2; HMNJ)

  Chromosome 9p21.1-p12; Recessive


Distal SMA, X-linked 3 (SMAX3)41

  ATPase, Cu++-transporting, alpha polypeptide (ATP7A) ; Chromosome Xq21.1; Recessive


Spinal muscular atrophy with respiratory failure (SMARD) 2, X-linked (SMAX) 111

  Ribosomal biogenesis protein LAS1L (LAS1L) ; Chromosome Xq12; Recessive


Distal hereditary motor neuropathy 45

  Chromosome 11p; Recessive


Distal Hereditary Motor Neuropathy (HMN 2C) 71

  Heat-shock 27-kd protein 3 (HSPB3; HSPL27) ; Chromosome 5q11.2; Dominant

Distal Hereditary Motor Neuropathy with Pyramidal features

  Chromosome 4q34.3-q35.2; Dominant

Spinal Muscular Atrophy: Other



Infantile Spinal Muscular Atrophy with Arthrogryposis (XL-SMA; SMAX2)
  Ubiquitin-activating enzyme 1 (UBE1) ; Xp11.23; Recessive

Proximal SMA with dominant inheritance: Adult Onset (Finkel, Late adult type)
  VAPB ; Chromosome 20q13.32; Dominant

Spinal muscular atrophy: Congenital, non-progressive, of lower limbs
  TRPV4 ; Chromosome 12q24.11; Dominant

Early-onset spinal muscular atrophy with contractures (SMALED2) 15, 90
  Bicaudal D, drosophila, homolog of, 2 (BICD2) ; Chromosome 9q22.31; Dominant


Spinal muscular atrophy with Lower limb predominance (SMA-LED) 75
  Dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) Chromosome 14q32.31; Dominant

Hereditary Motor Sensory Neuropathy, Proximal (HMSN-P; CMT 2G) 97
  Trk-fused Gene (TFG) ; Chromosome 3q12.2; Dominant


Spinal muscular atrophy, type I, with congenital bone fractures
  Autosomal Recessive or Sporadic

Pontocerebellar hypoplasia with Spinal muscular atrophy (PCH1A)
  Vaccinia-related kinase 1 (VRK1) ; Chromosome 14q32.2; Recessive

Pontocerebellar hypoplasia with Spinal muscular atrophy (PCH1B) 89
  Exosome component 3 (EXOSC3) ; Chromosome 9p13.2; Recessive

Lower motor neuron syndrome with childhood onset (DSMA4) 57
  Pleckstrin homology domain-containing protein, Family G, Member 5 (PLEKHG5) ; Chromosome 1p36.31; Recessive


Distal Motor Neuropathy with Young Adult Onset (DSMA5; dHMN) 87
  DNAJ/HSP40 Homolog, subfamily B, Member 2 (DNAJB2; HSJ1) ; Chromosome 2q35; Recessive


Lower motor neuron syndrome with late-adult onset (SMAJ) 79
  Chromosome 22q11.2-q13.2; Dominant


Proximal Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME; SMAPME) 91
  N-Acylsphingosine Amidohydrolase 1 (ASAH1; Acid ceramidase) ; Chromosome 8p22; Recessive


SMA: Severe infantile
  Recessive



Scapuloperoneal syndromes (? Dominant; Sporadic)


Hereditary ALS

Inheritance
Dominant
  ALS 1: SOD1; 21q
  ALS 3: 18q21
  ALS 4: Senataxin; 9q34
  ALS 6: FUS; 16p11
  ALS 7: 20p13
  ALS 8: VAPB; 20q13
  ALS 9: Angiogenin; 14q11
  ALS 10: TDP-43; 1p36
  ALS 11: FIG4; 6q21
  ALS 12: OPTN; 10p15
  ALS 13: Ataxin-2: 12q24
  ALS 14: VCP; 9p13
  ALS 17: CHMP2B; 3p11
  ALS 18: PFN1; 17p13
  ALS 19: ErbB4; 2q34
  ALS 20: HNRNPA1; 12q13
  ALS: Matr3; 5q31
  ALS: DAO; 12q24
  ALS-FTD: c9orf72; 9p21
  ALS-FTD: 16p12
  ALS-FTD: GRN; 17q21
  Bulbar ALS
  Dynactin: 2p13
  SPG17: BSCL2; 11q13

Recessive
  ALS 2: Alsin; 2q33
  ALS 5: Spatacsin; 15q21
  ALS 6: FUS; 16p11
  ALS 12: OPTN; 10p15
  ALS 16: SIGMAR1; 9p13
  ALS 6-21: 6p25, 21q22
  SPG39: PNPLA6; 19p13
  MPAN: c19orf12; 9q12

X-linked, Dominant
  ALS 15: UBQLN2; Xp11

Sporadic
  ALS 1: SOD1; 21q
  ALS 6: FUS; 16p11
  ALS-FTD: c9orf72; 9p21
  ALS-FTD-3: CHMP2B; 3p11
  ALS: NEFH; 22q12
  Peripherin: 12q12
  SQSTM1 (p62): 5q35
  TAF15: 17q12
  EWSR1: 22q12
  Western Pacific
    ALS-PD1
    ALS-PD2
Onset age
Adult onset
  ALS 1: SOD1; 21q
  ALS 3: 18q21
  ALS 6: FUS; 16p11
  ALS 7: 20p13
  ALS 8: VAPB; 20q13
  ALS 9: Angiogenin; 14q11
  ALS 10: TDP-43; 1p36
  ALS 11: FIG4; 6q21
  ALS 12: OPTN; 10p15
  ALS 13: Ataxin-2: 12q24
  ALS 14: VCP; 9p13
  ALS 17: CHMP2B; 3p11
  ALS 18: PFN1; 17p13
  ALS 19: ErbB4; 2q34
  ALS 20: HNRNPA1; 12q13
  ALS: Matr3; 5q31
  ALS: DAO; 12q24
  ALS X: UBQLN2; Xp11
  ALS Other: Heterogeneous
  ALS-FTD: c9orf72; 9p21
  ALS-FTD: 16p12
  ALS-FTD-3: CHMP2B; 3p11
  ALS-FTD: GRN; 17q21
  Bulbar ALS
  ALS: NEFH; 22q12
  Dynactin: 2p13
  Western Pacific

Childhood onset (Juvenile)
  ALS 2: 2q33; Recessive
  ALS 4: Senataxin; 9q34; Dominant
  ALS 5: Spatacsin; 15q21; Recessive
  ALS 6: FUS; 16p11; Sporadic
  ALS 6-21: 6p25, 21q22
  ALS 16: SIGMAR1; 9p13
  Distal HMN 1: 7q34; Dominant
  Other (Type 2)

Also see
  Aggregates
  External link: ALS mutations
  PLS
  Susceptibility loci



General: Hereditary vs Sporadic ALS

Feature Hereditary ALS Sporadic ALS
Males:Females 1:1 1.7:1
Disease Duration Bimodal
  < 2 & > 5 years
Unimodal
  3 to 4 years
% of ALS cases 10% 90%
Onset
  Age distribution More younger More older
  Mean age 46 years 56 to 63 years
  Juvenile ALS 2, 4, 5 Rare
  Bulbar features 25%
    c9orf72 40%
    ALS1 0%
15%
  Legs Common Occasional

ALS: Aggregate composition 102

ALS SYNDROMES: DOMINANT

ALS syndromes: Correlations with some SOD1 mutations
Specific SOD1 mutations

l Exon 1; Ala4Val
  Most common mutation
  Rapid onset & progression (1.0 yrs)
  Frequently only lower motor neuron signs

l Exon 2; His46Arg
  @ Cu binding site of SOD
  Onset: Late; Legs
  Bulbar unusual
  Slow progression (17 yrs)

l Exon 2; 6 bp deletion(ΔG27/P28) 65
  Mutation reduces transcription
  Low levels of mutant SOD1 protein
  Philipino founder
  Low penetrance
  Disease duration: 4.3 years

l Exon 4; Leu84Val
  Lower motor neuron only
  Rapid progression (1.5 yrs)
  ?Earlier onset in males

l Exon 4; Asp90Ala
  Onset: 20 to 94 yrs; Legs; Preparetic phase
    Leg cramps; Myalgia; Painful paresthesia
  Bladder dysfunction
  Progression: Slow; Legs ® Arms
  Inheritance
    Recessive: Finnish (2.5% carriers)
    Dominant: Clinically variable
      Incomplete penetrance

l Exon 4; Ile104Phe
  Variable intrafamilial clinical features
    Age of Onset: 6 yrs - asymptomatic
    Course: 2 to 14 yrs until bulbar signs
    Limb onset: arms or legs

l Exon 4; Ile113Thr
  Reported in Sporadic ALS patients
  Relatively common; Low penetrance
  Late Onset: Mean 59 years
  Course: Variable; 2 to 20 years

l Exon 5; Codon 126
  2 base pair deletion
  Rapid Progression
Mutant protein not detectable in brain

ALS clinical features
  • Lower motor neuron predominant
    • A4V; G72C; Leu84Val; Gly93Cys;
      E100K; D101N; S134N

  • Slow progression
    • C6S; Asp11Tyr; G12R; V31A;
      Gly37Arg (18 yrs); Gly41Asp (11 yrs); F45C;
      H46R; D76V; Gly93Cys (13 yrs); Gly93Ser;
      Leu144Ser; Leu144Phe (9 yrs)

  • Rapid progression
    • Ala4Thr (1.5 yrs); A4V; C6G; C6F
      V7E; L8Q; G10V; G41S; H43R; H48Q
      Asn86Ser Homozygous (5 mo);
      D101>G,H,N,Y; Leu106Val (1.2 yrs);
      I112T; I113F; R115G; D125H; 126 2bp del;
      S134N; Gly147Ser; Val148Gly (2 yrs); V148G

  • Late onset
    • His46Arg; Gly85Arg (55 yrs); D90A;
      I113T; Ala140Gly; Leu144Phe

  • Early onset
    • Gly37Arg; Leu38Val; A89V;
      L104F (6 yrs); ?Leu106Val

  • More common in females
    • Gly41Asp

  • Bulbar onset
    • Cys6Gly; L8Q; His48Gln; Asp76Tyr;
      Asp90Ala (Homozygous);
      D101Y; I112M; T116R; Cys146Arg;
      Gly147Ser; Val148Ile; I149T; Ile151Thr

  • Onset in legs
    • G10V; H46R; L84F; D90A;
      Gly93Cys; Gly93Ser

  • SOD Mutations in "sporadic" ALS
    • Most common: Asp90Ala; Ile113Thr
    • Other: Asp11Tyr; V14G; G16S; E21K; G72S;
      D101N; V118InsAAAAC; E133delGAA
    • Incomplete penetrance

ALS SYNDROMES: RECESSIVE


BULBAR MOTOR NEURON SYNDROMES: Hereditary & Other

Brown-Vialetto-van Laere
  1: SLC52A3; 20p13; Recessive
  2: SLC52A2; 8q24; Recessive
  3: UBQLN1; 9q21; Dominant
Bulbar ALS
Fazio-Londe: SLC52A3; 20p13; Recessive
Kennedy's Syndrome: Androgen Receptor ; Xq12; Recessive
Madras motor neuron disease: Sporadic
Spino-bulbar muscular atrophy: Dominant
Worster-Drought



Fazio-Londe 12
  SLC52A3 (RFT2; c20orf54) ; Chromosome 20p13; Recessive
Brown-Vialetto-van Laere 1 (BVVLS1) 4
  SLC52A3 (RFT2; c20orf54) ; Chromosome 20p13; Recessive
Brown-Vialetto-van Laere 2 (BVVLS2) 93
  SLC52A2 (RFT3; GPR172A; RFVT2) ; Chromosome 8q24.3; Recessive
Brown-Vialetto-van Laere 3 (BVVLS3) 94
  Ubiquilin 1 (UBQLN1) ; Chromosome 9q21.32; Dominant
Madras Motor Neuron Disease 61
  Sporadic; Occasional recessive inheritance
Worster-Drought syndrome: Congenital suprabulbar paralysis 11

Cortical Suprabulbar palsy

Multisystem disorders


Motor Neuron Disease: Mouse models



Patient resources
Patient information: Spinal muscular atrophy


Return to Neuromuscular Home Page
Return to Motor Syndromes
Return to Polyneuropathy Index

References
1. Neurology 1999;53:2187-2189
2. Human Mutation 2000;15:228-237, J Med Genet 2003;40:e39-e42
3. Neurology 2000;54:1534-1537
4. Am J Med Genet 2000;92:117-121; Am J Hum Genet 2010; Online March
5. Am J Med Genet 1998;75:193-195
6. Brain 2000;123:1612-1623, Nature Genetics March 2004
7. JNNP 1998;64:217-220
8. Human Mutation 2000;16:253-263
9. JAMA 2000;284:1664-1669
10. Acta Neuropathol 2000;100:603-607
11. Brain 2000;123:2160-2170
12. Brain 1992;115:1889-1900
13. Pediatr Neurol 2001;24:371-372
14. Pediatr Neurol 2001;25:59-61
15. Neuromuscular Disorders 1998;8:405-408
16. Nature Genetics 2001;29:160-165, Nature Genetics 2001;29:166-173
17. Am J Hum Genet 2002;70:January
18. J Neurosci 2001;21:9246-9254
19. Neuromuscular Disorders 2002;12:26-30
20. J Neurol 2002;249:290-293
21. Ann Neurol 2002;51;585-592
22. Brain 2002;125;1320-1325
23. Hum Mol Genet 2002;11;1605-1614
24. J Cell Biol 2001;152:1107-1114
25. American Journal of Medical Genetics 2002;110:301–307
26. Brain 2002;125:1624-1634
27. J Neurochem 2002;82:1229-1238, J Neurol Sci 2006; Online January
28. Nature Genet 2002;On-Line October 21
29. Hum Mutation 2002;On-Line #552
30. J Mol Biol 2002;324:247–256
31. Ann Neurol 2002;52:680-683
32. Arch Neurol 2002;59:1921-1926
33. J Neurological Sci 2003; Online February
34. Nature Genet 2003;On-Line March 10
35. Hum Molec Genet 2003;12:711–725
36. Am J Hum Genet 2003; Online June; Science 2009:323; 1205-1208 & 1208-1211, Neurology 2010; July 28
37. Nature Genet 2003; Online June 29
38. Am J Hum Genet 2003; Online July
39. Muscle Nerve 2004;29:323–328
40. PNAS 2004
41. J Med Genet 2004;41:224–229, Neurology 2009;72:246–252
42. Neuron 2004;41:687-699
43. J Med Genet 2004;41:315–320, Am J Hum Genet 2004; Online September
44. Am J Hum Genet 2004; Online April
45. J Peripher Nerv Syst 2004;9:122-123
46. Hum Mol Genet 2004;13:1677-1692
47. Am J Med Genet 2004; Online Sept
48. J Biol Chem 2004; Online Aug, Neurobiology of Aging 2010; Online Apr
49. Hum Mol Genet 2004;13:R195-R202
50. Nature Genet 2005; Online March
51. NeuroReport 2005;16:657-661
52. Nature Genetics 2005; Online October
53. Neurology 2005;65:1954–1957
54. Brain 2006; On line Feb 22, Neurology 2006; On line January 18, Neurology 2009;72:1669–1676
55. Nature Genetics 2006; Online Feb 26, Ann Neurol 2011;70:964–973
56. J Cell Biol 2006;172:733-745
57. Neurology 2006;67:120–124, Am J Hum Genet 2007; Online May
58. Neurology 2006;67 On line June 28 , PLoS ONE 2010;5:29872
59. Hum Genet 2007 Mar 13
60. Amyotroph Lateral Scler 2007;8:73-78
61. J Neurol Sci 2008 Feb 6
62. Ann Neurol 2008 Online Feb 20, Science 2008 Online Feb 27, Nat Genet 2008 Mar 30, Lancet Neurology 2008 Online Apr 5, Neurology 2012;78:1519–1526
63. Am J Hum Genetics 2009;;84:85-88
64.Neuromuscul Disord 2009 Mar 20
65. Neurology 2009;72:1153–1159
66. Hum Mol Genet 2009;18:1288-300
67. Neuromuscul Disord 2009;19:193-195
68. Am J Human Genet 2009; Online July
69. Am J Human Genet 2009; Online August
70. Brain 2010 Online January
71. Neurology 2010;74:502-506
72. Am J Hum Genet 2010; Online February
73. PNAS 2010; Online April
74. Nature 2010;465:223-226, J Neurol Neurosurg Psychiatry 2011 May 25
75. Neurology 2010;75:539-546, Neurology 2012;78 On-line March
76. J Neurol Neurosurg Psychiatry 2010;81:572-577
77. Neurology 2010;75:611–618
78. Neuron 2010;67:575-587
79. Neurology 2011;77:334-340, European Journal of Human Genetics 2012; Online April
80. Neurobiology of Aging 2011; Online August
81. Ann Neurol 2011; Online August
82. Nature 2011; Aug 21
83. Neuron 2011; Online September: A, B, Acta Neuropathol 2012; On-Line Jan, Brain 2012; Online Feb, Am J Human Genet 2013; Online February
84. PLoS One 2011;6(10):e26164
85. J Neurol Neurosurg Psychiatry 2011 Oct 25
86. PNAS 2011; On-line November
87. Annals Neurology 2011; On-line November
88. Hum Mol Genet 2012; Online Mar
89. Nature Genetics 2012; Online Apr
90. Brain 2012;135:1714-1723, American J Hum Genet 2013; Online May A, B, C
91. Am J Human Genet 2012; On line June
92. PNAS 2009;106:2794–2799
93. Brain 2012; Online June 26, J Med Genet 2012; Online Dec
94. Neurobiol Dis 2012; Online July
95. Nature 2012; Online July
96. Am J Human Genet 2012; Online Aug
97. Am J Human Genet 2012; Online Aug
98. Am J Human Genet 2012; Online Nov
99. Neurogenetics 2012; Online November
100. Mitochondrion 2013 Feb
101. Acta Neuropathol 2013;125:523–533
102. Acta Neuropathol 2013 May 15
103. Am J Human Genet 2013; Online May
104. Neurogenetics 2013 Aug 24
105. Am J Human Genet 2013; Online Oct
106. Am J Human Genet 2013; Online Oct
107. Nat Neurosci 2013 Nov 3
108. Acta Neuropathol 2014 Jan 3
109. Neurobiol Aging 2013 Dec 4
110. Neurology 2014; Online Feb
111. Neurology 2014; Online March

4/16/2014